Variant report

Variant	rs2074657
Chromosome Location	chr7:38816050-38816051
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:38815774-38816102	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr7:38815699-38816098	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
VPS41	TF binding region

Extended variants
information (count: 99 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs1017028	0.94[ASN][1000 genomes]
rs10242048	0.92[ASN][1000 genomes]
rs10247503	0.95[CHB][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs10251912	0.96[ASN][1000 genomes]
rs10254567	0.96[ASN][1000 genomes]
rs10271176	0.96[ASN][1000 genomes]
rs10486677	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10486678	0.83[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.93[TSI][hapmap];0.91[YRI][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11971020	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11979618	0.89[ASN][1000 genomes]
rs11979824	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11980882	0.91[CHB][hapmap];0.86[CHD][hapmap];0.87[GIH][hapmap];0.85[JPT][hapmap];0.82[TSI][hapmap]
rs12533557	0.96[ASN][1000 genomes]
rs12672237	0.89[ASN][1000 genomes]
rs12672750	0.89[ASN][1000 genomes]
rs12672793	0.91[CHB][hapmap];0.90[JPT][hapmap];0.91[YRI][hapmap];0.89[ASN][1000 genomes]
rs12672885	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12674115	0.86[CHB][hapmap];0.84[CHD][hapmap];0.83[GIH][hapmap];0.90[JPT][hapmap];0.86[TSI][hapmap]
rs12701652	0.85[JPT][hapmap]
rs12701659	0.88[ASN][1000 genomes]
rs1468348	0.86[CHB][hapmap];0.86[CHD][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs17700072	0.84[ASN][1000 genomes]
rs17700142	0.91[CHB][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap];0.81[LWK][hapmap];0.84[MKK][hapmap];0.95[YRI][hapmap];0.89[ASN][1000 genomes]
rs17700172	0.86[CHB][hapmap];0.88[CHD][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs17700190	0.89[ASN][1000 genomes]
rs17700262	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17700392	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17700752	1.00[ASW][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];0.94[MKK][hapmap];0.96[TSI][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17767695	0.87[ASN][1000 genomes]
rs17767770	0.88[ASN][1000 genomes]
rs17767818	0.91[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap];0.83[YRI][hapmap];0.89[ASN][1000 genomes]
rs17768153	0.83[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.96[TSI][hapmap];0.91[YRI][hapmap];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17768212	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17768711	0.94[CHB][hapmap];0.89[JPT][hapmap]
rs17768753	0.85[JPT][hapmap]
rs1859494	0.88[ASN][1000 genomes]
rs1859937	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs1978171	0.86[ASN][1000 genomes]
rs1978172	0.86[ASN][1000 genomes]
rs2074655	0.83[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.96[TSI][hapmap];0.87[YRI][hapmap];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2107743	0.96[ASN][1000 genomes]
rs2108507	0.86[CHB][hapmap];0.86[CHD][hapmap];0.87[GIH][hapmap];0.85[JPT][hapmap]
rs2189855	1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2214666	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2240351	0.95[CHB][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs2240352	0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs2240353	0.83[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.96[TSI][hapmap];0.87[YRI][hapmap];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2240354	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2286082	0.95[ASN][1000 genomes]
rs2286084	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2286086	0.95[CHB][hapmap];0.89[JPT][hapmap]
rs2286087	0.98[AFR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2286088	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2286091	0.97[AFR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2286094	0.93[AFR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2286098	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2286104	0.83[CEU][hapmap];0.92[AFR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2286105	0.84[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.96[TSI][hapmap];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2286106	0.95[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs2286109	0.91[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap];0.86[YRI][hapmap];0.89[ASN][1000 genomes]
rs2392598	0.85[CHB][hapmap];0.89[JPT][hapmap];0.96[ASN][1000 genomes]
rs28548028	0.96[ASN][1000 genomes]
rs34724372	0.91[CHB][hapmap];0.84[CHD][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.82[TSI][hapmap]
rs35253728	0.88[ASN][1000 genomes]
rs35791079	0.88[ASN][1000 genomes]
rs3735347	0.86[CHB][hapmap];0.88[CHD][hapmap];0.87[ASN][1000 genomes]
rs3801139	0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.81[LWK][hapmap];0.97[ASN][1000 genomes]
rs3801140	0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs3801141	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3801143	0.95[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs3801145	0.95[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs3801146	0.96[ASN][1000 genomes]
rs4723782	0.96[ASN][1000 genomes]
rs4723785	0.95[CHB][hapmap];0.85[JPT][hapmap];0.96[ASN][1000 genomes]
rs56002981	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56050717	0.86[ASN][1000 genomes]
rs57091471	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60590111	0.89[ASN][1000 genomes]
rs62444078	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62444107	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6462860	0.88[ASN][1000 genomes]
rs66662538	0.89[ASN][1000 genomes]
rs66796288	0.88[ASN][1000 genomes]
rs66976998	0.86[ASN][1000 genomes]
rs67202646	0.88[ASN][1000 genomes]
rs733150	0.95[CHB][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs73368205	0.99[AFR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7778570	0.86[ASN][1000 genomes]
rs7779329	0.86[ASN][1000 genomes]
rs7780625	0.86[CHB][hapmap];0.86[CHD][hapmap];0.87[GIH][hapmap];0.85[JPT][hapmap];0.82[TSI][hapmap]
rs7783546	0.88[ASN][1000 genomes]
rs7783695	0.81[JPT][hapmap]
rs7785911	0.95[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs7786389	0.82[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7788664	0.80[JPT][hapmap]
rs7794030	0.87[ASN][1000 genomes]
rs7795874	0.95[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs7797871	0.88[ASN][1000 genomes]
rs886646	0.95[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2074657	C7orf36	cis	parietal	SCAN
rs2074657	STARD3NL	cis	lymphoblastoid	seeQTL
rs2074657	ELMO1	cis	cerebellum	SCAN
rs2074657	VPS41	cis	lung	GTEx

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38757200-38835400	Weak transcription	Psoas Muscle	Psoas
2	chr7:38761000-38820400	Weak transcription	Stomach Mucosa	stomach
3	chr7:38763200-38828000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr7:38763400-38828800	Weak transcription	HepG2	liver
5	chr7:38774800-38816800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr7:38775800-38816600	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr7:38780800-38828800	Weak transcription	Gastric	stomach
8	chr7:38784800-38835000	Weak transcription	NHEK	skin
9	chr7:38785600-38834600	Weak transcription	HMEC	breast
10	chr7:38785600-38835000	Weak transcription	NH-A	brain
11	chr7:38787000-38827400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr7:38789000-38818800	Strong transcription	Primary B cells from peripheral blood	blood
13	chr7:38789600-38816800	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr7:38792200-38828000	Weak transcription	Colon Smooth Muscle	Colon
15	chr7:38792400-38821800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr7:38793200-38818200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr7:38793400-38828600	Weak transcription	Small Intestine	intestine
18	chr7:38793400-38861200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr7:38793600-38832600	Weak transcription	Brain Angular Gyrus	brain
20	chr7:38798200-38828800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:38800200-38837600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr7:38801000-38818400	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr7:38801600-38816400	Strong transcription	Liver	Liver
24	chr7:38801600-38817600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr7:38801800-38816200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:38802000-38816600	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr7:38802000-38816600	Strong transcription	Adipose Nuclei	Adipose
28	chr7:38803200-38845400	Weak transcription	Colonic Mucosa	Colon
29	chr7:38803200-38846000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr7:38804400-38836200	Weak transcription	Fetal Brain Male	brain
31	chr7:38805600-38816600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr7:38806200-38827200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr7:38806200-38828800	Weak transcription	Pancreas	Pancrea
34	chr7:38806400-38827600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr7:38806600-38828800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr7:38806800-38816200	Weak transcription	Aorta	Aorta
37	chr7:38806800-38821600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr7:38806800-38828400	Weak transcription	Fetal Lung	lung
39	chr7:38806800-38828800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr7:38806800-38828800	Weak transcription	Brain Substantia Nigra	brain
41	chr7:38806800-38828800	Weak transcription	Esophagus	oesophagus
42	chr7:38806800-38828800	Weak transcription	Thymus	Thymus
43	chr7:38806800-38828800	Weak transcription	Spleen	Spleen
44	chr7:38806800-38832800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr7:38808200-38816600	Strong transcription	Duodenum Mucosa	Duodenum
46	chr7:38809000-38827600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr7:38809200-38828600	Weak transcription	Brain Anterior Caudate	brain
48	chr7:38809400-38816600	Strong transcription	Left Ventricle	heart
49	chr7:38809400-38821600	Weak transcription	Fetal Intestine Small	intestine
50	chr7:38809600-38822400	Weak transcription	Fetal Stomach	stomach

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