Variant report

Variant	rs12905514
Chromosome Location	chr15:57006037-57006038
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:57004343..57007295-chr15:57010153..57011779,2	K562	blood:
2	chr15:57002294..57004303-chr15:57005932..57008123,2	MCF-7	breast:
3	chr15:57006002..57008817-chr15:57023119..57025487,2	K562	blood:
4	chr15:57005760..57007990-chr15:57020400..57022198,2	MCF-7	breast:

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs1010700	0.91[EUR][1000 genomes]
rs10518870	0.88[CEU][hapmap];0.86[MEX][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes]
rs11071280	0.81[EUR][1000 genomes]
rs11071287	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11071293	0.82[EUR][1000 genomes]
rs11630168	0.96[CEU][hapmap];0.90[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.96[TSI][hapmap]
rs11632471	0.89[EUR][1000 genomes]
rs11633363	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11635333	0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11638497	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11638580	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11638707	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11852277	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11856558	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11857388	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11857706	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12438709	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12442018	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12442189	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap]
rs12591502	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12592389	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.96[TSI][hapmap]
rs12593286	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12595822	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12898521	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12898760	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12900045	0.81[EUR][1000 genomes]
rs12900244	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12900441	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12901887	0.82[CEU][hapmap]
rs12903283	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12903336	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12903862	0.85[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.84[YRI][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12906591	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12906830	0.99[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12908806	0.81[EUR][1000 genomes]
rs12908906	0.82[AMR][1000 genomes]
rs12910442	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12910459	0.89[CEU][hapmap];0.85[EUR][1000 genomes]
rs12911191	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12911381	0.93[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.98[TSI][hapmap];0.85[YRI][hapmap];0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12912666	0.96[CEU][hapmap];0.80[CHB][hapmap];0.95[GIH][hapmap];0.98[TSI][hapmap];0.90[EUR][1000 genomes]
rs12913361	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12913871	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12913960	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12915816	0.81[EUR][1000 genomes]
rs12916079	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1424694	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1477475	0.91[EUR][1000 genomes]
rs16977020	0.90[CHB][hapmap];0.82[JPT][hapmap]
rs17238845	0.85[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.95[TSI][hapmap];0.84[YRI][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1812395	0.82[EUR][1000 genomes]
rs1895640	0.91[EUR][1000 genomes]
rs1979467	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1994081	0.96[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap]
rs2052640	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2161934	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2170459	0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2170463	0.88[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.80[EUR][1000 genomes]
rs2279298	1.00[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2279299	0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.81[YRI][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2414480	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28620278	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3803457	0.85[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.84[YRI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3816752	0.85[ASW][hapmap];0.81[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3929265	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4601984	0.81[EUR][1000 genomes]
rs4774244	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.96[GIH][hapmap];0.95[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4774884	0.82[AMR][1000 genomes]
rs4774886	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs521904	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs538382	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]
rs553421	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs559736	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57387969	0.88[EUR][1000 genomes]
rs62022931	0.91[EUR][1000 genomes]
rs62022933	0.87[EUR][1000 genomes]
rs62022934	0.89[EUR][1000 genomes]
rs6493885	0.94[EUR][1000 genomes]
rs7162317	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7165831	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7168178	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7169454	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7174432	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7178796	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7182187	0.82[AMR][1000 genomes]
rs795032	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8025391	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8036217	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8041540	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8043223	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.81[ASN][1000 genomes]

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:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56919800-57016600	Weak transcription	Small Intestine	intestine
2	chr15:56958400-57019200	Weak transcription	Fetal Intestine Small	intestine
3	chr15:56971000-57023400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr15:56988800-57008400	Weak transcription	Fetal Heart	heart
5	chr15:56992400-57008400	Weak transcription	K562	blood
6	chr15:56992400-57010800	Weak transcription	Spleen	Spleen
7	chr15:56992400-57021800	Weak transcription	Right Ventricle	heart
8	chr15:56992600-57022600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr15:56993000-57016000	Weak transcription	Pancreas	Pancrea
10	chr15:56993000-57024000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr15:56993200-57007200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr15:56993200-57008200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr15:56993200-57010800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr15:56993200-57010800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr15:56993200-57011600	Weak transcription	HMEC	breast
16	chr15:56993400-57021600	Weak transcription	Fetal Brain Male	brain
17	chr15:56994000-57023800	Weak transcription	Fetal Kidney	kidney
18	chr15:56995800-57016000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr15:56995800-57022200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr15:56996000-57008000	Weak transcription	Brain Angular Gyrus	brain
21	chr15:56996000-57009200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr15:56996000-57010800	Weak transcription	Brain Anterior Caudate	brain
23	chr15:56996000-57011000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr15:56996000-57011400	Weak transcription	Aorta	Aorta
25	chr15:56996000-57013000	Weak transcription	Ovary	ovary
26	chr15:56996000-57021800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr15:56996400-57007600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr15:56996400-57015800	Weak transcription	Fetal Intestine Large	intestine
29	chr15:56996400-57021600	Weak transcription	HSMMtube	muscle
30	chr15:56996400-57022600	Weak transcription	NH-A	brain
31	chr15:56996600-57011000	Weak transcription	Dnd41	blood
32	chr15:56996800-57022600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr15:56997000-57016000	Weak transcription	HSMM	muscle
34	chr15:56997200-57015800	Weak transcription	Liver	Liver
35	chr15:56997200-57016400	Weak transcription	Fetal Muscle Trunk	muscle
36	chr15:56997200-57016600	Weak transcription	Left Ventricle	heart
37	chr15:56997200-57022800	Weak transcription	Gastric	stomach
38	chr15:56997200-57023800	Weak transcription	Fetal Stomach	stomach
39	chr15:56997400-57010800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr15:56997400-57012400	Weak transcription	NHLF	lung
41	chr15:56997600-57011800	Weak transcription	NHDF-Ad	bronchial
42	chr15:56998000-57016000	Weak transcription	Fetal Lung	lung
43	chr15:56998400-57007400	Weak transcription	Primary hematopoietic stem cells	blood
44	chr15:56998400-57013800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr15:56998400-57013800	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr15:56998400-57016200	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr15:56998400-57021200	Weak transcription	Stomach Smooth Muscle	stomach
48	chr15:56998600-57015800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr15:56998800-57010400	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr15:56998800-57021800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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