Variant report

Variant	rs17166022
Chromosome Location	chr7:12462128-12462129
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 114 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10046485	0.81[ASN][1000 genomes]
rs10046487	0.81[ASN][1000 genomes]
rs10046491	0.82[ASN][1000 genomes]
rs10085906	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1012462	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1020152	0.95[ASN][1000 genomes]
rs1020153	0.95[ASN][1000 genomes]
rs10215269	0.86[CHB][hapmap];0.93[CHD][hapmap]
rs10215656	0.82[ASN][1000 genomes]
rs10254572	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10255444	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10266368	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10266592	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10268223	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10278216	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10278300	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10488155	0.82[ASN][1000 genomes]
rs10499419	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs1072557	0.90[EUR][1000 genomes]
rs11974426	0.85[ASN][1000 genomes]
rs11977668	0.82[ASN][1000 genomes]
rs11981273	0.82[ASN][1000 genomes]
rs11983017	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1440017	0.82[ASN][1000 genomes]
rs1440019	0.85[MEX][hapmap];0.83[EUR][1000 genomes]
rs1595803	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16877397	0.89[EUR][1000 genomes]
rs16877400	1.00[CEU][hapmap];0.95[GIH][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs16877494	0.86[CHB][hapmap]
rs17165894	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs17165896	0.90[CEU][hapmap]
rs17165906	1.00[CEU][hapmap];0.94[TSI][hapmap];0.89[EUR][1000 genomes]
rs17165910	1.00[CEU][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs17165936	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17165995	0.90[CEU][hapmap];0.86[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];0.92[JPT][hapmap];0.85[MEX][hapmap];0.88[TSI][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17166017	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17166028	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17166034	0.83[EUR][1000 genomes]
rs1899031	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1899034	0.81[JPT][hapmap]
rs2108820	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2159208	0.90[ASN][1000 genomes]
rs28551688	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28551764	0.82[ASN][1000 genomes]
rs34965005	0.82[ASN][1000 genomes]
rs35171886	0.89[EUR][1000 genomes]
rs3735183	0.81[ASN][1000 genomes]
rs3801366	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs3823844	1.00[CEU][hapmap];0.94[TSI][hapmap];0.89[EUR][1000 genomes]
rs3846989	0.91[ASN][1000 genomes]
rs4719312	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4721092	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs4721093	1.00[CEU][hapmap];0.82[MEX][hapmap];0.94[TSI][hapmap];0.87[EUR][1000 genomes]
rs4721094	0.88[EUR][1000 genomes]
rs4721095	1.00[CEU][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4721099	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4721104	0.86[CHB][hapmap]
rs57076782	0.82[ASN][1000 genomes]
rs57347805	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57501786	0.89[EUR][1000 genomes]
rs57623700	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57835825	0.82[ASN][1000 genomes]
rs58280274	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58436782	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58775458	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59060587	0.82[ASN][1000 genomes]
rs59301534	0.82[ASN][1000 genomes]
rs59739486	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60043259	0.82[ASN][1000 genomes]
rs60983130	0.89[EUR][1000 genomes]
rs61112361	0.81[ASN][1000 genomes]
rs61529219	0.84[EUR][1000 genomes]
rs66688036	0.84[EUR][1000 genomes]
rs6950922	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6951017	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6954423	0.82[ASN][1000 genomes]
rs6959981	0.96[ASN][1000 genomes]
rs6968600	1.00[CHB][hapmap];0.94[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6975302	0.82[ASN][1000 genomes]
rs6975517	0.82[ASN][1000 genomes]
rs6976074	0.82[ASN][1000 genomes]
rs6977724	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6977850	0.94[ASN][1000 genomes]
rs73056737	0.82[ASN][1000 genomes]
rs73056743	0.82[ASN][1000 genomes]
rs73056757	0.82[ASN][1000 genomes]
rs73288158	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73288159	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73290184	0.84[AFR][1000 genomes]
rs734083	0.82[ASN][1000 genomes]
rs758282	0.82[ASN][1000 genomes]
rs7781993	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7784095	0.89[EUR][1000 genomes]
rs7785791	0.86[CHB][hapmap];0.80[ASN][1000 genomes]
rs7794551	0.80[ASN][1000 genomes]
rs7795767	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7796334	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7806977	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv606199	chr7:11506143-12486659	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	nsv464373	chr7:12406826-12536336	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv606224	chr7:12406826-12536336	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv887635	chr7:12410112-12474635	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv887636	chr7:12424405-12498138	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	nsv887637	chr7:12424405-12508894	Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
10	nsv887638	chr7:12424405-12519212	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
11	nsv464375	chr7:12428803-12505373	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
12	nsv606226	chr7:12428803-12505373	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
13	nsv464376	chr7:12429488-12526282	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
14	nsv606227	chr7:12429488-12526282	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
15	nsv516511	chr7:12439672-12479584	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
16	nsv887639	chr7:12448482-12488535	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17166022	VWDE	cis	parietal	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12458800-12462400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr7:12458800-12463200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:12461000-12462600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr7:12461000-12463400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:12461200-12463400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr7:12461400-12462800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr7:12461400-12463400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr7:12461400-12463400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:12461400-12463800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:12461600-12462200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr7:12461600-12462200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:12461600-12462600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr7:12461600-12463000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr7:12461600-12463200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr7:12461600-12463600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:12461600-12464000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:12461600-12464200	Enhancers	HMEC	breast
18	chr7:12461800-12462200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr7:12461800-12462400	Enhancers	A549	lung
20	chr7:12461800-12464000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:12461800-12464000	Enhancers	HUVEC	blood vessel
22	chr7:12462000-12463400	Enhancers	Osteobl	bone

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