Variant report

Variant	rs2240352
Chromosome Location	chr7:38803741-38803742
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:38793546..38795976-chr7:38802943..38805348,2	K562	blood:

Extended variants
information (count: 102 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs1017028	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10242048	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10247503	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10251912	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10254567	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10271176	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10486677	0.95[CHB][hapmap];0.90[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10486678	0.95[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];0.85[LWK][hapmap];0.84[MKK][hapmap];0.97[ASN][1000 genomes]
rs11971020	0.98[ASN][1000 genomes]
rs11979618	0.88[ASN][1000 genomes]
rs11979824	0.87[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs11980882	0.86[CHB][hapmap];0.84[CHD][hapmap];0.80[JPT][hapmap]
rs12533557	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12672237	0.88[ASN][1000 genomes]
rs12672750	0.88[ASN][1000 genomes]
rs12672793	0.86[CHB][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs12672885	0.95[CHB][hapmap];0.90[JPT][hapmap];0.97[ASN][1000 genomes]
rs12674115	0.82[CHB][hapmap];0.81[CHD][hapmap];0.85[JPT][hapmap]
rs12701652	0.80[JPT][hapmap]
rs12701659	0.89[ASN][1000 genomes]
rs1468348	0.91[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs1473137	0.82[JPT][hapmap]
rs17700072	0.86[ASN][1000 genomes]
rs17700142	0.86[CHB][hapmap];0.88[CHD][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs17700172	0.91[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs17700190	0.88[ASN][1000 genomes]
rs17700262	0.95[CHB][hapmap];0.90[JPT][hapmap];0.98[ASN][1000 genomes]
rs17700392	0.98[ASN][1000 genomes]
rs17700752	0.86[CHB][hapmap];0.98[CHD][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs17767695	0.86[ASN][1000 genomes]
rs17767770	0.89[ASN][1000 genomes]
rs17767818	0.86[CHB][hapmap];0.88[CHD][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs17768153	0.95[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.85[LWK][hapmap];0.84[MKK][hapmap];0.97[ASN][1000 genomes]
rs17768212	0.98[ASN][1000 genomes]
rs17768711	0.89[CHB][hapmap];0.84[JPT][hapmap]
rs17768753	0.80[JPT][hapmap]
rs1859494	0.89[ASN][1000 genomes]
rs1859937	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs1864886	0.81[JPT][hapmap]
rs1978171	0.87[ASN][1000 genomes]
rs1978172	0.87[ASN][1000 genomes]
rs2074655	0.95[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.85[LWK][hapmap];0.84[MKK][hapmap];0.98[ASN][1000 genomes]
rs2074657	0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs2107743	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2108507	0.82[CHB][hapmap];0.84[CHD][hapmap];0.80[JPT][hapmap]
rs2189855	0.94[CHB][hapmap];0.90[JPT][hapmap];0.98[ASN][1000 genomes]
rs2214666	0.98[ASN][1000 genomes]
rs2240351	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2240353	0.95[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.84[LWK][hapmap];0.84[MKK][hapmap];0.98[ASN][1000 genomes]
rs2240354	0.97[ASN][1000 genomes]
rs2286082	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2286084	0.98[ASN][1000 genomes]
rs2286086	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs2286087	0.98[ASN][1000 genomes]
rs2286088	0.95[CHB][hapmap];0.90[JPT][hapmap];0.98[ASN][1000 genomes]
rs2286091	0.98[ASN][1000 genomes]
rs2286094	0.97[ASN][1000 genomes]
rs2286098	0.95[CHB][hapmap];0.90[JPT][hapmap];0.98[ASN][1000 genomes]
rs2286104	0.98[ASN][1000 genomes]
rs2286105	0.94[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2286106	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.87[TSI][hapmap];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2286109	0.86[CHB][hapmap];0.84[CHD][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs2392598	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28548028	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34724372	0.86[CHB][hapmap];0.81[CHD][hapmap];0.85[JPT][hapmap]
rs35253728	0.89[ASN][1000 genomes]
rs35791079	0.89[ASN][1000 genomes]
rs3735347	0.91[CHB][hapmap];0.90[CHD][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs3801139	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3801140	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3801141	0.98[ASN][1000 genomes]
rs3801143	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.87[TSI][hapmap];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3801145	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.83[TSI][hapmap];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3801146	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4723782	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4723785	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56002981	0.81[ASN][1000 genomes]
rs56050717	0.85[ASN][1000 genomes]
rs57091471	0.98[ASN][1000 genomes]
rs60590111	0.88[ASN][1000 genomes]
rs62444078	0.86[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs62444107	0.98[ASN][1000 genomes]
rs6462860	0.87[ASN][1000 genomes]
rs66662538	0.88[ASN][1000 genomes]
rs66796288	0.89[ASN][1000 genomes]
rs66976998	0.84[ASN][1000 genomes]
rs67202646	0.87[ASN][1000 genomes]
rs733150	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73368205	0.94[ASN][1000 genomes]
rs7778570	0.87[ASN][1000 genomes]
rs7779329	0.87[ASN][1000 genomes]
rs7780625	0.82[CHB][hapmap];0.84[CHD][hapmap];0.80[JPT][hapmap]
rs7783546	0.89[ASN][1000 genomes]
rs7783695	0.85[JPT][hapmap]
rs7785161	0.82[JPT][hapmap]
rs7785911	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.87[TSI][hapmap];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7786389	0.98[ASN][1000 genomes]
rs7788664	0.85[JPT][hapmap]
rs7794030	0.88[ASN][1000 genomes]
rs7795874	0.94[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.87[TSI][hapmap];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7797871	0.90[ASN][1000 genomes]
rs886646	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2240352	EPDR1	cis	cerebellum	SCAN

Chromatin state (count:121 , 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	chr7:38759200-38810200	Weak transcription	A549	lung
3	chr7:38759400-38810600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr7:38761000-38820400	Weak transcription	Stomach Mucosa	stomach
5	chr7:38763200-38828000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr7:38763400-38828800	Weak transcription	HepG2	liver
7	chr7:38767200-38805800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:38774800-38816800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr7:38775800-38816600	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr7:38780800-38806000	Weak transcription	Fetal Brain Female	brain
11	chr7:38780800-38828800	Weak transcription	Gastric	stomach
12	chr7:38781400-38805800	Weak transcription	Brain Substantia Nigra	brain
13	chr7:38784400-38805800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr7:38784600-38805800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:38784800-38835000	Weak transcription	NHEK	skin
16	chr7:38785000-38815800	Weak transcription	NHLF	lung
17	chr7:38785600-38834600	Weak transcription	HMEC	breast
18	chr7:38785600-38835000	Weak transcription	NH-A	brain
19	chr7:38786600-38805800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr7:38786600-38805800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:38786600-38806000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr7:38787000-38827400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr7:38789000-38818800	Strong transcription	Primary B cells from peripheral blood	blood
24	chr7:38789600-38811000	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr7:38789600-38816800	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr7:38791400-38812600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr7:38791800-38813400	Weak transcription	Osteobl	bone
28	chr7:38791800-38814200	Weak transcription	K562	blood
29	chr7:38792000-38810800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr7:38792000-38812600	Weak transcription	Brain Germinal Matrix	brain
31	chr7:38792200-38828000	Weak transcription	Colon Smooth Muscle	Colon
32	chr7:38792400-38821800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr7:38793200-38805800	Weak transcription	Spleen	Spleen
34	chr7:38793200-38806200	Weak transcription	HSMMtube	muscle
35	chr7:38793200-38818200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr7:38793400-38803800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:38793400-38803800	Weak transcription	Esophagus	oesophagus
38	chr7:38793400-38828600	Weak transcription	Small Intestine	intestine
39	chr7:38793400-38861200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr7:38793600-38832600	Weak transcription	Brain Angular Gyrus	brain
41	chr7:38793800-38805800	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr7:38794000-38805800	Weak transcription	Aorta	Aorta
43	chr7:38794000-38806000	Weak transcription	Fetal Lung	lung
44	chr7:38794400-38806200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:38794600-38805800	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr7:38795000-38805600	Weak transcription	Fetal Muscle Leg	muscle
47	chr7:38795000-38805800	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr7:38795000-38805800	Weak transcription	Fetal Muscle Trunk	muscle
49	chr7:38795200-38803800	Weak transcription	Rectal Smooth Muscle	rectum
50	chr7:38795200-38805800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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