Variant report

Variant	rs7586066
Chromosome Location	chr2:54810492-54810493
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54810337..54813834-chr2:54815762..54818177,4	MCF-7	breast:
2	chr2:54799877..54801952-chr2:54808384..54810954,2	K562	blood:
3	chr2:54797362..54799747-chr2:54810321..54813282,3	K562	blood:
4	chr2:54783297..54785333-chr2:54809031..54810704,2	K562	blood:

Extended variants
information (count: 129 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10166844	0.95[ASN][1000 genomes]
rs10169439	0.81[CEU][hapmap]
rs10169954	0.93[ASN][1000 genomes]
rs10169975	0.91[ASN][1000 genomes]
rs10170066	0.95[ASN][1000 genomes]
rs10170355	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10176359	0.86[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10176445	1.00[CHB][hapmap]
rs10182538	0.95[ASN][1000 genomes]
rs10182836	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10183043	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10183867	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10184128	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10187338	0.95[ASN][1000 genomes]
rs10188185	1.00[CHB][hapmap]
rs10188545	0.90[ASN][1000 genomes]
rs10193692	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10205410	1.00[CHB][hapmap];0.82[JPT][hapmap];0.97[ASN][1000 genomes]
rs10206143	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10208225	0.95[ASN][1000 genomes]
rs10210502	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10528	0.85[CEU][hapmap];0.88[CHB][hapmap];0.93[EUR][1000 genomes]
rs1137645	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11555856	0.88[EUR][1000 genomes]
rs11892236	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11892443	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11896957	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11898032	0.92[ASN][1000 genomes]
rs11898033	0.92[ASN][1000 genomes]
rs11902659	0.85[EUR][1000 genomes]
rs11902987	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs11904679	0.89[CHB][hapmap];0.83[EUR][1000 genomes]
rs12713262	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12713263	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12713264	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs12713265	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12713266	0.95[ASN][1000 genomes]
rs12713267	0.92[ASN][1000 genomes]
rs12713268	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12713269	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12713270	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12713271	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12713272	0.85[EUR][1000 genomes]
rs12713273	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12713274	0.89[ASN][1000 genomes]
rs12987967	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13004944	0.87[EUR][1000 genomes]
rs13021606	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13021615	0.88[CHB][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes]
rs13036147	0.80[EUR][1000 genomes]
rs13386146	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs13391522	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs13391803	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13399656	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs13403284	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs13407214	0.97[ASN][1000 genomes]
rs13432302	0.95[ASN][1000 genomes]
rs17039558	0.85[CEU][hapmap];0.89[CHB][hapmap];1.00[YRI][hapmap];0.89[EUR][1000 genomes]
rs17045939	0.85[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];0.80[EUR][1000 genomes]
rs17046036	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17046061	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17046067	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17046077	0.85[CHB][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes]
rs17046097	0.86[JPT][hapmap]
rs17046108	0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.87[EUR][1000 genomes]
rs17046257	1.00[CHB][hapmap]
rs2048370	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs2229503	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2271329	0.88[CHB][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes]
rs28581481	0.93[ASN][1000 genomes]
rs3287	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs34077590	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34094680	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34263579	0.82[EUR][1000 genomes]
rs34308676	0.89[EUR][1000 genomes]
rs34311770	0.91[EUR][1000 genomes]
rs34429083	0.81[EUR][1000 genomes]
rs34978408	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs354232	0.89[CHB][hapmap]
rs35619551	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs36018286	0.80[EUR][1000 genomes]
rs3739109	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes]
rs3796017	0.95[ASN][1000 genomes]
rs3796018	0.95[ASN][1000 genomes]
rs3796019	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3796022	0.89[CHB][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes]
rs4261758	0.85[CEU][hapmap];0.89[CHB][hapmap];0.87[EUR][1000 genomes]
rs4319969	0.89[CHB][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs4346422	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4347868	0.92[ASN][1000 genomes]
rs4358162	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4374410	0.93[ASN][1000 genomes]
rs4455200	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4519566	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs45487791	0.80[EUR][1000 genomes]
rs4577321	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4616509	0.95[ASN][1000 genomes]
rs4641979	0.95[ASN][1000 genomes]
rs57281248	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58419243	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61126015	0.88[EUR][1000 genomes]
rs6545430	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6545435	0.93[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes]
rs66693131	0.84[EUR][1000 genomes]
rs6706263	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs67079536	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6721612	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6724136	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67244067	0.87[EUR][1000 genomes]
rs6730876	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6734445	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6734536	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6739140	0.92[ASN][1000 genomes]
rs6741053	0.88[EUR][1000 genomes]
rs6749802	0.92[ASN][1000 genomes]
rs72806653	0.87[EUR][1000 genomes]
rs7340302	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7424459	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7556752	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7564719	0.90[ASN][1000 genomes]
rs7569127	0.86[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7584223	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7586311	0.95[ASN][1000 genomes]
rs7599241	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7602992	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7608414	1.00[CHB][hapmap]
rs9677089	0.82[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	nsv998277	chr2:54710337-54849648	Genic enhancers Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7586066	EML6	cis	Thyroid	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54796800-54810600	Enhancers	Small Intestine	intestine
2	chr2:54801800-54811000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:54802000-54816400	Enhancers	Liver	Liver
4	chr2:54802200-54822600	Weak transcription	Esophagus	oesophagus
5	chr2:54804000-54822400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:54804600-54814600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr2:54805000-54811000	Enhancers	Fetal Thymus	thymus
8	chr2:54805400-54815800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:54805400-54830200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr2:54805600-54811800	Weak transcription	Ovary	ovary
11	chr2:54805600-54811800	Weak transcription	NHDF-Ad	bronchial
12	chr2:54805600-54819800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr2:54806200-54811800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:54806200-54813000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:54806800-54811800	Weak transcription	Fetal Brain Male	brain
16	chr2:54806800-54811800	Weak transcription	HSMM	muscle
17	chr2:54806800-54812000	Weak transcription	NHLF	lung
18	chr2:54807000-54811000	Enhancers	Stomach Mucosa	stomach
19	chr2:54807000-54811600	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr2:54807000-54811800	Weak transcription	NHEK	skin
21	chr2:54807000-54826000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:54807200-54810600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr2:54807200-54812800	Weak transcription	HSMMtube	muscle
24	chr2:54807200-54814600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr2:54807200-54814800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:54807200-54815800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:54807200-54816400	Weak transcription	Aorta	Aorta
28	chr2:54807200-54819800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr2:54807400-54811000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr2:54807400-54811800	Weak transcription	Dnd41	blood
31	chr2:54807400-54811800	Weak transcription	Osteobl	bone
32	chr2:54807400-54813200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:54807600-54811200	Weak transcription	Hela-S3	cervix
34	chr2:54807600-54811800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr2:54807600-54811800	Weak transcription	NH-A	brain
36	chr2:54807600-54812000	Weak transcription	HMEC	breast
37	chr2:54807600-54813600	Enhancers	Duodenum Mucosa	Duodenum
38	chr2:54807800-54811200	Weak transcription	HUVEC	blood vessel
39	chr2:54807800-54812600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:54807800-54812600	Genic enhancers	HepG2	liver
41	chr2:54807800-54816200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr2:54807800-54818800	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr2:54808000-54813200	Weak transcription	Fetal Stomach	stomach
44	chr2:54808200-54811000	Enhancers	Brain Hippocampus Middle	brain
45	chr2:54808400-54810600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:54808400-54810600	Enhancers	Spleen	Spleen
47	chr2:54808400-54810800	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr2:54808400-54811000	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr2:54808400-54811000	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr2:54808400-54811200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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