Variant report

Variant	rs771477
Chromosome Location	chr1:93851295-93851296
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 128 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:127)

rs_ID	r²[population]
rs1000606	0.89[EUR][1000 genomes]
rs10430073	0.89[EUR][1000 genomes]
rs10782958	0.90[EUR][1000 genomes]
rs1081523	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1081524	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1081525	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1081526	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10874765	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs10874767	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.96[YRI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10874771	0.90[EUR][1000 genomes]
rs10874774	0.85[EUR][1000 genomes]
rs10874775	0.95[EUR][1000 genomes]
rs1088319	0.81[EUR][1000 genomes]
rs11164882	0.85[CEU][hapmap]
rs11164888	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11164889	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11164890	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11164891	0.87[EUR][1000 genomes]
rs11164906	0.89[EUR][1000 genomes]
rs11164911	1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[EUR][1000 genomes]
rs11582703	0.90[EUR][1000 genomes]
rs11584466	0.89[EUR][1000 genomes]
rs12070900	0.84[CEU][hapmap];0.90[EUR][1000 genomes]
rs12071627	0.90[EUR][1000 genomes]
rs12080715	0.89[EUR][1000 genomes]
rs12085959	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs12090723	0.90[EUR][1000 genomes]
rs12731675	0.90[EUR][1000 genomes]
rs12731809	0.90[EUR][1000 genomes]
rs1323626	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1323627	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1323628	1.00[CEU][hapmap];0.83[GIH][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1535698	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs1535700	1.00[CEU][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1570528	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.90[MEX][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2031223	0.95[EUR][1000 genomes]
rs2031224	0.89[EUR][1000 genomes]
rs2104280	0.89[EUR][1000 genomes]
rs2783498	0.92[CEU][hapmap]
rs2815410	0.93[CEU][hapmap]
rs2815411	1.00[CEU][hapmap]
rs2815413	1.00[CEU][hapmap]
rs2815414	0.83[AMR][1000 genomes]
rs3767965	0.87[ASN][1000 genomes]
rs4573531	0.90[EUR][1000 genomes]
rs4847239	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs4847407	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4847409	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[EUR][1000 genomes]
rs4847411	0.95[EUR][1000 genomes]
rs485622	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs488646	1.00[CEU][hapmap];0.96[YRI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs504810	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs506556	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.96[YRI][hapmap];0.83[AMR][1000 genomes]
rs508942	0.88[EUR][1000 genomes]
rs512361	0.89[EUR][1000 genomes]
rs519723	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.96[YRI][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs522999	1.00[CEU][hapmap]
rs523262	0.88[EUR][1000 genomes]
rs556888	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs558667	0.89[EUR][1000 genomes]
rs559397	0.90[EUR][1000 genomes]
rs56303209	0.90[EUR][1000 genomes]
rs566743	0.85[EUR][1000 genomes]
rs571212	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[EUR][1000 genomes]
rs573056	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs581825	1.00[CEU][hapmap]
rs587754	0.90[EUR][1000 genomes]
rs605759	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs626714	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.96[YRI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs628714	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs629153	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs631966	0.89[EUR][1000 genomes]
rs633789	0.93[CEU][hapmap];0.89[EUR][1000 genomes]
rs637198	0.88[EUR][1000 genomes]
rs641390	0.88[EUR][1000 genomes]
rs6541351	0.93[CEU][hapmap];0.83[GIH][hapmap];0.95[EUR][1000 genomes]
rs6541400	0.89[EUR][1000 genomes]
rs658178	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs658877	1.00[CEU][hapmap]
rs661566	0.84[EUR][1000 genomes]
rs662546	0.84[EUR][1000 genomes]
rs6657587	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6664886	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs6667701	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs667680	0.82[AMR][1000 genomes]
rs6687359	0.89[EUR][1000 genomes]
rs668944	1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[EUR][1000 genomes]
rs6701250	1.00[CEU][hapmap];0.83[GIH][hapmap];0.84[EUR][1000 genomes]
rs670650	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs693872	1.00[CEU][hapmap];0.96[YRI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs698926	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7413775	0.89[EUR][1000 genomes]
rs7519163	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[EUR][1000 genomes]
rs7525189	0.89[EUR][1000 genomes]
rs7529639	0.98[EUR][1000 genomes]
rs7546661	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7551635	0.90[EUR][1000 genomes]
rs7555292	1.00[CEU][hapmap];0.83[GIH][hapmap];0.90[EUR][1000 genomes]
rs771448	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs771449	0.98[EUR][1000 genomes]
rs771450	0.98[EUR][1000 genomes]
rs771451	0.98[EUR][1000 genomes]
rs771452	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs771453	0.98[EUR][1000 genomes]
rs771455	0.83[EUR][1000 genomes]
rs771456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs771457	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs771459	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs771460	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs771463	1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[EUR][1000 genomes]
rs771464	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs771466	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs771467	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs771468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs771469	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs771471	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs771472	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs771474	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs771475	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs771480	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs797669	0.83[EUR][1000 genomes]
rs809515	0.82[EUR][1000 genomes]
rs810028	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs812789	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9432680	0.89[EUR][1000 genomes]
rs9432700	0.90[EUR][1000 genomes]
rs9432701	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871640	chr1:93807122-93953469	Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs771477	RP4-717I23.3	cis	Artery Aorta	GTEx
rs771477	RP4-717I23.3	cis	Muscle Skeletal	GTEx
rs771477	RP4-717I23.3	cis	Nerve Tibial	GTEx
rs771477	RP4-717I23.3	cis	Whole Blood	GTEx
rs771477	TMED5	Cis_1M	lymphoblastoid	RTeQTL
rs771477	LOC646848	cis	normal skin	skin_eQTL
rs771477	RP4-717I23.3	cis	Adipose Subcutaneous	GTEx
rs771477	RP4-717I23.3	cis	Artery Tibial	GTEx
rs771477	RP4-717I23.3	cis	Stomach	GTEx
rs771477	RP4-717I23.3	cis	Heart Left Ventricle	GTEx
rs771477	RP4-717I23.3	cis	Skin Sun Exposed Lower leg	GTEx
rs771477	RP4-717I23.3	cis	Esophagus Muscularis	GTEx
rs771477	RP4-717I23.3	cis	Thyroid	GTEx
rs771477	RP4-717I23.3	cis	Esophagus Mucosa	GTEx
rs771477	RP4-717I23.3	cis	lung	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93840200-93851400	Weak transcription	Left Ventricle	heart
2	chr1:93840600-93852400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:93847200-93852000	Weak transcription	Aorta	Aorta
4	chr1:93850400-93852600	ZNF genes & repeats	Dnd41	blood

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