Variant report

Variant	rs7571064
Chromosome Location	chr2:72898099-72898100
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 166 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:164)

rs_ID	r²[population]
rs10183056	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];0.94[TSI][hapmap];1.00[ASN][1000 genomes]
rs10206555	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.82[TSI][hapmap];1.00[ASN][1000 genomes]
rs10211019	1.00[ASN][1000 genomes]
rs1032982	1.00[CHB][hapmap]
rs10460572	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.89[MEX][hapmap];0.94[TSI][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10496186	0.92[CEU][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10865391	0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10865392	1.00[CEU][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11126370	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.89[MEX][hapmap];0.94[TSI][hapmap];1.00[ASN][1000 genomes]
rs11126371	1.00[ASN][1000 genomes]
rs11126372	1.00[ASN][1000 genomes]
rs11126373	0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11126374	0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11126376	1.00[CHB][hapmap]
rs11126385	1.00[ASN][1000 genomes]
rs11676555	1.00[CHB][hapmap]
rs11677707	1.00[CHB][hapmap]
rs11679683	1.00[CHB][hapmap]
rs11684985	1.00[CHB][hapmap];0.86[YRI][hapmap];0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11685114	1.00[CHB][hapmap]
rs11686713	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap]
rs11894160	1.00[ASN][1000 genomes]
rs12052508	0.92[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes]
rs12471136	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12471312	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap]
rs12476130	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12476397	1.00[ASN][1000 genomes]
rs12618390	0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12713772	0.92[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12713773	0.91[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12713774	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12713775	0.83[CEU][hapmap];1.00[CHD][hapmap];0.88[TSI][hapmap]
rs12989141	1.00[ASN][1000 genomes]
rs12992973	1.00[CHB][hapmap]
rs12996319	1.00[CHB][hapmap]
rs12996406	0.92[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12998681	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.89[MEX][hapmap];0.94[TSI][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13006497	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap]
rs13008041	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13008258	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13011477	1.00[CHB][hapmap]
rs13016873	0.91[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13424607	1.00[ASN][1000 genomes]
rs1396106	0.84[EUR][1000 genomes]
rs1400580	1.00[ASN][1000 genomes]
rs1400581	1.00[CHB][hapmap]
rs1446887	1.00[CHB][hapmap]
rs1446888	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];0.89[MEX][hapmap];0.93[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446889	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446890	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446891	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446892	0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446893	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];0.93[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446895	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446896	1.00[CHB][hapmap]
rs1508061	1.00[CHB][hapmap]
rs1517181	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs1517185	1.00[CHB][hapmap]
rs1567230	0.84[CEU][hapmap];1.00[CHD][hapmap];0.81[TSI][hapmap]
rs1596930	1.00[CHB][hapmap]
rs1596931	1.00[CHB][hapmap]
rs1711838	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17503444	1.00[CHB][hapmap]
rs1911690	1.00[CHB][hapmap]
rs1992799	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1995734	0.92[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2048171	0.92[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2138683	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.89[MEX][hapmap];0.94[TSI][hapmap];1.00[ASN][1000 genomes]
rs2420565	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2420880	0.84[CEU][hapmap]
rs3106879	1.00[ASN][1000 genomes]
rs3106880	1.00[ASN][1000 genomes]
rs34127669	1.00[ASN][1000 genomes]
rs4144318	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4321391	0.84[CEU][hapmap]
rs4364045	1.00[CHB][hapmap]
rs4407272	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852291	0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852292	0.92[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs4852293	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852294	1.00[ASN][1000 genomes]
rs4852298	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[TSI][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852872	0.92[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852873	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap]
rs4852874	1.00[CHB][hapmap]
rs4852875	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.89[MEX][hapmap];0.94[TSI][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852876	0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852877	0.92[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852878	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852880	1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852883	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap]
rs4852886	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap]
rs4852888	1.00[CHB][hapmap]
rs4852889	1.00[CHB][hapmap]
rs4852890	1.00[CHB][hapmap]
rs4852891	1.00[CHB][hapmap]
rs4852893	0.84[CEU][hapmap];0.94[TSI][hapmap];1.00[ASN][1000 genomes]
rs581976	1.00[ASN][1000 genomes]
rs583673	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs585653	1.00[ASN][1000 genomes]
rs585938	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.88[MEX][hapmap];0.94[TSI][hapmap];1.00[ASN][1000 genomes]
rs597799	1.00[ASN][1000 genomes]
rs619343	1.00[ASN][1000 genomes]
rs623095	1.00[ASN][1000 genomes]
rs631550	1.00[ASN][1000 genomes]
rs632670	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];0.94[TSI][hapmap];1.00[ASN][1000 genomes]
rs634476	1.00[ASN][1000 genomes]
rs634929	1.00[ASN][1000 genomes]
rs642847	1.00[ASN][1000 genomes]
rs645489	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];0.88[MEX][hapmap];0.94[TSI][hapmap];1.00[ASN][1000 genomes]
rs646357	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs647269	1.00[ASN][1000 genomes]
rs650352	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs653220	1.00[CHB][hapmap];0.83[GIH][hapmap]
rs654157	1.00[ASN][1000 genomes]
rs6546776	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546777	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546778	0.92[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546779	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546781	1.00[CHB][hapmap]
rs6546782	0.92[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546783	0.92[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs656370	1.00[ASN][1000 genomes]
rs656440	1.00[ASN][1000 genomes]
rs658067	1.00[ASN][1000 genomes]
rs666361	1.00[ASN][1000 genomes]
rs6707435	1.00[ASN][1000 genomes]
rs6714580	1.00[ASN][1000 genomes]
rs6714595	1.00[CHB][hapmap]
rs671721	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];0.88[MEX][hapmap];0.94[TSI][hapmap];1.00[ASN][1000 genomes]
rs6724529	1.00[CHB][hapmap]
rs6736305	0.92[CEU][hapmap];1.00[ASN][1000 genomes]
rs6739002	1.00[ASN][1000 genomes]
rs6741956	1.00[ASN][1000 genomes]
rs6742088	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6742312	0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6747378	0.92[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs674863	1.00[ASN][1000 genomes]
rs6750766	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.89[MEX][hapmap];0.94[TSI][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6758593	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap]
rs6761075	0.91[EUR][1000 genomes]
rs678684	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs680380	1.00[ASN][1000 genomes]
rs683328	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs684673	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs688433	1.00[ASN][1000 genomes]
rs7420391	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7420667	1.00[CHB][hapmap]
rs7560529	0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7560599	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7565198	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7577238	1.00[CHB][hapmap]
rs7580268	0.92[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7588400	1.00[CHB][hapmap]
rs7588602	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7591025	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7591303	0.90[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7592155	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[TSI][hapmap];1.00[ASN][1000 genomes]
rs7598238	0.92[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7601020	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7601318	0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7603797	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs983928	0.92[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs990569	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.94[TSI][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874264	chr2:72593243-72901170	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv874265	chr2:72789764-72982609	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7571064	CYP26B1	cis	Whole Blood	GTEx
rs7571064	CYP26B1	cis	parietal	SCAN
rs7571064	SLC12A7	trans	lymphoblastoid	seeQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72858400-72904000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:72866800-72902600	Weak transcription	Left Ventricle	heart
3	chr2:72873000-72903800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:72892000-72905400	Weak transcription	Pancreas	Pancrea
5	chr2:72892400-72900400	Weak transcription	Ovary	ovary
6	chr2:72895400-72902600	Weak transcription	Fetal Lung	lung
7	chr2:72895800-72900400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:72895800-72901200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:72895800-72903400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:72896000-72905400	Weak transcription	Psoas Muscle	Psoas
11	chr2:72896800-72898200	Enhancers	A549	lung
12	chr2:72896800-72903800	Weak transcription	NHEK	skin
13	chr2:72896800-72943000	Weak transcription	Primary T cells from cord blood	blood
14	chr2:72897000-72900400	Weak transcription	Osteobl	bone
15	chr2:72897000-72903400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:72897000-72903400	Weak transcription	NHDF-Ad	bronchial
17	chr2:72897000-72904000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:72897000-72905200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr2:72897000-72912600	Weak transcription	NHLF	lung
20	chr2:72897200-72902200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:72897800-72909800	Weak transcription	Brain Germinal Matrix	brain

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