Variant report

Variant	rs538382
Chromosome Location	chr15:56998703-56998704
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:56986912..56991518-chr15:56996141..56999393,4	K562	blood:
2	chr15:56997588..56999927-chr15:57024317..57027282,2	K562	blood:
3	chr15:56997588..57000196-chr15:57024112..57025817,2	K562	blood:

Variant related genes	Relation type
ENSG00000137871	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs1010700	0.89[EUR][1000 genomes]
rs10518870	0.88[CEU][hapmap];0.80[EUR][1000 genomes]
rs11071280	0.81[EUR][1000 genomes]
rs11071287	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11071293	0.80[EUR][1000 genomes]
rs11630168	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs11632471	0.87[EUR][1000 genomes]
rs11633363	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11635333	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11638497	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11638580	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11638707	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11852277	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11856558	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11857388	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11857706	0.92[CEU][hapmap];0.95[CHB][hapmap];0.96[JPT][hapmap];0.81[YRI][hapmap];0.80[AMR][1000 genomes]
rs12438709	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12442018	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12442189	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes]
rs12591502	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.83[EUR][1000 genomes]
rs12592389	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs12593286	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12595822	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12898521	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12898760	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12900244	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12900441	0.90[EUR][1000 genomes]
rs12901887	0.82[CEU][hapmap]
rs12903283	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes]
rs12903336	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs12903862	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12905514	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12906591	0.91[EUR][1000 genomes]
rs12906830	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12908906	0.80[AMR][1000 genomes]
rs12910442	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12910459	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs12911191	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12911381	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12912666	0.96[CEU][hapmap];0.85[CHB][hapmap];0.89[EUR][1000 genomes]
rs12913361	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12913871	0.90[EUR][1000 genomes]
rs12913960	0.91[EUR][1000 genomes]
rs12916079	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1424694	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1477475	0.89[EUR][1000 genomes]
rs16977020	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs17238845	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs1895640	0.89[EUR][1000 genomes]
rs1979467	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1994081	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs2052640	0.82[EUR][1000 genomes]
rs2161934	0.81[EUR][1000 genomes]
rs2170459	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.80[EUR][1000 genomes]
rs2170463	0.88[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap]
rs2279298	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2279299	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2414480	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28620278	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3803457	0.92[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes]
rs3816752	0.80[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3929265	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4774244	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4774884	0.80[AMR][1000 genomes]
rs4774886	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs521904	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs553421	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs559736	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57387969	0.86[EUR][1000 genomes]
rs62022931	0.87[EUR][1000 genomes]
rs62022933	0.85[EUR][1000 genomes]
rs62022934	0.86[EUR][1000 genomes]
rs6493885	0.90[EUR][1000 genomes]
rs7162317	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7165831	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7168178	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7169454	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7172110	0.80[CHB][hapmap]
rs7178796	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7182187	0.80[AMR][1000 genomes]
rs795032	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8025391	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8036217	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8041540	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8043223	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3422474	chr15:56867190-57244330	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56919800-57016600	Weak transcription	Small Intestine	intestine
2	chr15:56937400-57000200	Weak transcription	Colonic Mucosa	Colon
3	chr15:56958400-57019200	Weak transcription	Fetal Intestine Small	intestine
4	chr15:56971000-57023400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr15:56984000-56998800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr15:56987200-56999600	Strong transcription	Fetal Thymus	thymus
7	chr15:56988800-57008400	Weak transcription	Fetal Heart	heart
8	chr15:56990000-56999000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr15:56990000-56999200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr15:56990200-56999400	Strong transcription	Primary B cells from peripheral blood	blood
11	chr15:56990200-56999400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr15:56990400-56998800	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr15:56990400-56999000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr15:56991200-56999600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:56991200-57001200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr15:56992400-57008400	Weak transcription	K562	blood
17	chr15:56992400-57010800	Weak transcription	Spleen	Spleen
18	chr15:56992400-57021800	Weak transcription	Right Ventricle	heart
19	chr15:56992600-57022600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr15:56993000-57016000	Weak transcription	Pancreas	Pancrea
21	chr15:56993000-57024000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr15:56993200-56999200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr15:56993200-56999400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr15:56993200-57000200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr15:56993200-57001200	Weak transcription	Stomach Mucosa	stomach
26	chr15:56993200-57001600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr15:56993200-57002400	Weak transcription	NHEK	skin
28	chr15:56993200-57007200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr15:56993200-57008200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr15:56993200-57010800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr15:56993200-57010800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr15:56993200-57011600	Weak transcription	HMEC	breast
33	chr15:56993400-56999200	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr15:56993400-57021600	Weak transcription	Fetal Brain Male	brain
35	chr15:56994000-57023800	Weak transcription	Fetal Kidney	kidney
36	chr15:56994400-56998800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr15:56994600-56998800	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr15:56994800-56998800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr15:56994800-56998800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr15:56995600-57000200	Weak transcription	Brain Hippocampus Middle	brain
41	chr15:56995600-57000600	Weak transcription	Brain Germinal Matrix	brain
42	chr15:56995800-56999200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr15:56995800-56999800	Weak transcription	Fetal Brain Female	brain
44	chr15:56995800-57000200	Weak transcription	Brain Substantia Nigra	brain
45	chr15:56995800-57016000	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr15:56995800-57022200	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr15:56996000-57004600	Weak transcription	Esophagus	oesophagus
48	chr15:56996000-57005400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr15:56996000-57008000	Weak transcription	Brain Angular Gyrus	brain
50	chr15:56996000-57009200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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