Variant report

Variant	rs616697
Chromosome Location	chr7:124730985-124730986
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 240 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:234)

rs_ID	r²[population]
rs1006334	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs10081226	0.80[ASN][1000 genomes]
rs10081265	0.80[ASN][1000 genomes]
rs10081290	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs10081336	0.80[ASN][1000 genomes]
rs10081375	0.80[ASN][1000 genomes]
rs1011721	0.82[ASN][1000 genomes]
rs1011722	0.82[ASN][1000 genomes]
rs1011723	0.82[ASN][1000 genomes]
rs1021080	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs10227119	0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs10228686	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs10231355	0.80[ASN][1000 genomes]
rs10231818	0.80[ASN][1000 genomes]
rs10234592	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs10239507	0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs10243992	0.81[ASN][1000 genomes]
rs10247349	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs10252579	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs10252798	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs10254199	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs10255638	0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs10256218	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs10257712	0.95[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs10258873	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs10264210	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs10264288	0.90[CHB][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs10264766	0.80[ASN][1000 genomes]
rs1026836	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs1026837	0.90[ASN][1000 genomes]
rs1026839	0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs10269342	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs10270051	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs10272889	0.80[ASN][1000 genomes]
rs10274820	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs10275346	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs10276834	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs10279816	0.80[ASN][1000 genomes]
rs10280341	0.80[ASN][1000 genomes]
rs1031955	0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs10500098	0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs10954050	0.80[ASN][1000 genomes]
rs10954051	0.80[ASN][1000 genomes]
rs10954056	0.95[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs10954062	0.88[ASN][1000 genomes]
rs11761669	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs11763920	0.90[ASN][1000 genomes]
rs11767649	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs11767737	0.95[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs11769711	0.80[ASN][1000 genomes]
rs11975363	0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11980178	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs11981797	0.80[ASN][1000 genomes]
rs12111658	0.80[ASN][1000 genomes]
rs12111660	0.80[ASN][1000 genomes]
rs12112909	0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs12113765	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs12533918	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs12534466	0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs12535807	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs12536146	0.82[ASN][1000 genomes]
rs12537431	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs12538641	0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs12539580	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs12540261	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs12706629	0.80[ASN][1000 genomes]
rs13224820	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs13231916	0.90[ASN][1000 genomes]
rs13233978	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs13234368	0.95[CHB][hapmap];0.93[JPT][hapmap]
rs13234634	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs13240043	0.88[ASN][1000 genomes]
rs13240512	0.80[ASN][1000 genomes]
rs13307657	0.82[ASN][1000 genomes]
rs1351471	0.90[ASN][1000 genomes]
rs1383749	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1383750	0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1383751	0.80[ASN][1000 genomes]
rs1404898	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs1471571	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs1481327	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs1481328	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs1481329	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs1481330	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs1481331	0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs1481332	0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs1481337	0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs1481338	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1481339	0.96[ASN][1000 genomes]
rs1481340	0.80[ASN][1000 genomes]
rs1481342	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs1481343	0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs1525614	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs1525618	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs1525619	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs1531715	0.88[ASN][1000 genomes]
rs1531716	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs1552118	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs1552119	0.88[ASN][1000 genomes]
rs1552120	0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs1600738	0.90[ASN][1000 genomes]
rs1600739	0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs1600740	0.90[ASN][1000 genomes]
rs1600743	0.80[ASN][1000 genomes]
rs1600745	0.80[ASN][1000 genomes]
rs1600746	0.80[ASN][1000 genomes]
rs1842616	0.80[ASN][1000 genomes]
rs1871770	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs1871771	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs1986124	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs1994022	0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs1994023	0.80[ASN][1000 genomes]
rs1994024	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs1994025	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs2017928	0.88[ASN][1000 genomes]
rs2127971	0.82[ASN][1000 genomes]
rs2170351	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs2170353	0.82[ASN][1000 genomes]
rs2219953	0.90[ASN][1000 genomes]
rs2402756	0.91[CHB][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs2402757	0.95[CHB][hapmap];0.94[JPT][hapmap]
rs2402760	0.80[ASN][1000 genomes]
rs2402762	0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs2402763	0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs28491035	0.86[ASN][1000 genomes]
rs28807101	0.82[ASN][1000 genomes]
rs28817916	0.80[ASN][1000 genomes]
rs28820311	0.80[ASN][1000 genomes]
rs2929320	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2929323	0.96[ASN][1000 genomes]
rs2949802	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2968865	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs2968867	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34630567	0.88[ASN][1000 genomes]
rs34865746	0.90[ASN][1000 genomes]
rs35929436	0.82[ASN][1000 genomes]
rs3900363	0.90[ASN][1000 genomes]
rs3903521	0.90[ASN][1000 genomes]
rs3903522	0.90[ASN][1000 genomes]
rs3903523	0.90[ASN][1000 genomes]
rs4272297	0.90[ASN][1000 genomes]
rs585608	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs589823	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs597279	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs606229	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs607260	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs628365	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs632459	1.00[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs635682	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs635736	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs636161	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs636721	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs637482	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs639239	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6466963	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs6466964	0.80[ASN][1000 genomes]
rs6466965	0.80[ASN][1000 genomes]
rs6466966	0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs6466967	0.80[ASN][1000 genomes]
rs6466968	0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs6466969	0.80[ASN][1000 genomes]
rs6466970	0.82[ASN][1000 genomes]
rs6466971	0.81[ASN][1000 genomes]
rs6466972	0.82[ASN][1000 genomes]
rs6466982	0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs6466989	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs6466990	0.91[ASN][1000 genomes]
rs6466993	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs648619	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs651869	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs659987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs662165	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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs665753	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs672965	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs676037	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs683707	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs684345	0.82[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs685909	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6942997	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs6945951	0.90[ASN][1000 genomes]
rs6952915	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs6954614	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs6957525	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs6961441	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs6963594	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs6964090	0.90[ASN][1000 genomes]
rs6967707	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs6971179	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs6971413	0.82[ASN][1000 genomes]
rs6977313	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs719972	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs723444	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs7776744	0.80[ASN][1000 genomes]
rs7776821	0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs7777126	0.82[ASN][1000 genomes]
rs7778875	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7779594	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs7780392	0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs7786384	0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs7787025	0.82[ASN][1000 genomes]
rs7787605	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs7787765	0.82[ASN][1000 genomes]
rs7788066	0.88[ASN][1000 genomes]
rs7788458	0.88[ASN][1000 genomes]
rs7790975	0.80[ASN][1000 genomes]
rs7791399	0.80[ASN][1000 genomes]
rs7791488	0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs7792654	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs7794565	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs7794959	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs7795199	0.80[ASN][1000 genomes]
rs7795218	0.80[ASN][1000 genomes]
rs7795233	0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs7795605	0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs7795611	0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs7795934	0.88[ASN][1000 genomes]
rs7799518	0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs7799523	0.80[ASN][1000 genomes]
rs7799535	0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs7799712	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs7802007	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs7802210	0.88[ASN][1000 genomes]
rs7806126	0.82[ASN][1000 genomes]
rs7806530	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs7806548	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7810654	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs792627	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs900047	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs922711	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs922712	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs9332427	0.80[ASN][1000 genomes]
rs9691875	0.88[ASN][1000 genomes]
rs9692367	0.88[ASN][1000 genomes]
rs998054	0.95[CHB][hapmap];0.89[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	nsv889139	chr7:124600505-124767295	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv3394090	chr7:124602150-124900799	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv464708	chr7:124703756-124805279	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv608344	chr7:124703756-124805279	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv831119	chr7:124714009-124890119	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs616697	RP11-3B12.4	cis	Artery Tibial	GTEx
rs616697	RP11-3B12.1	cis	Artery Tibial	GTEx

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124728600-124731200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:124729000-124731200	Enhancers	HMEC	breast
3	chr7:124730000-124731600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:124730400-124731000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:124730400-124731000	Enhancers	NHEK	skin
6	chr7:124730800-124731000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr7:124730800-124731000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:124730800-124731200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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