Table 1.

HARs tested in functional assays that showed differences with the chimpanzee ortholog

HARs	Genome location (hg19)	Closest gene	Experimental approach	Biological function	Domain of expression	Reported functional difference	Postulated phenotypic association		References
HAR1	chr20:61,733,447‐61,733,630	HAR1F, HAR1R	qPCR; in situ hybridization	RNA gene	Cajal‐Retzius neurons	RNA secondary structure		Brain development	37
HACNS1/HAR2	chr2:236773664‐236774209	AGAP1 (CENTG2), GBX2	Transgenic mice	Enhancer	Limb, branchial archs	Gain of function		Limb development	54
2xHAR.142	chr14:34048651‐34048815	NPAS3	Transgenic mice	Enhancer	Forebrain, midbrain, spinal cord	Gain of function		Brain development	57
HAR202	chr14:34045570‐34045772	NPAS3	Transgenic zebrafish	Enhancer	Central nervous system	Loss of function		Brain development	56
ANC516	chr10:36238421‐36239039	FZD8	Transgenic mice	Enhancer	Forebrain, midbrain, spinal cord	Gain of function		Brain development	19
2xHAR.238	chr2:121832784‐121833140	GLI2, TFCP2L1	Transgenic mice	Enhancer	Forebrain, midbrain, hindbrain and spinal cord	Loss of function		Brain development	58
2xHAR.114	chr20:30425200‐30425393	MYLK2, FOXS1	Transgenic mice	Enhancer	Limb and spinal cord	Loss of function		Limb development	58
2xHAR.164	chr2:133346894‐133347089	ANKRD30BL, GPR39, LYPD1, NCKAP5	Transgenic mice	Enhancer	Forebrain, midbrain, hindbrain, spinal cord	Gain of function		Brain development	58
2xHAR.170	chr5:153640309‐153640363	GALNT10, SAP30L, HAND1	Transgenic mice	Enhancer	Isthmus and spinal cord	Loss and gain of function		Brain development	58
HAR25	chr4:182271922‐182272882	ODZ3	Transgenic mice	Enhancer	Eye	Loss of function		Eye development	58