Variant report

Variant	rs2962993
Chromosome Location	chr15:57344066-57344067
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 134 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:130)

rs_ID	r²[population]
rs1037956	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs1037958	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs10518894	0.91[JPT][hapmap]
rs10518895	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs11071305	0.84[EUR][1000 genomes]
rs11071309	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs11630195	0.81[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11631228	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11631541	0.85[CHB][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11632069	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs11637955	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs11852340	0.91[JPT][hapmap]
rs11853331	0.81[CEU][hapmap];0.85[CHB][hapmap];0.91[JPT][hapmap]
rs11855648	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs11857507	0.90[JPT][hapmap]
rs11858471	0.82[CEU][hapmap];0.85[CHB][hapmap];0.87[JPT][hapmap];0.85[EUR][1000 genomes]
rs11858783	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs12050751	0.81[CEU][hapmap]
rs12898327	0.86[CEU][hapmap];0.85[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12898844	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12899036	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs12899187	0.82[CEU][hapmap];0.85[CHB][hapmap];0.87[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12899915	0.82[CEU][hapmap];0.84[CHB][hapmap];0.87[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12900589	0.91[JPT][hapmap]
rs12900874	0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs12900986	0.81[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12901780	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12904070	0.84[EUR][1000 genomes]
rs12904634	0.91[JPT][hapmap]
rs12904933	0.91[JPT][hapmap]
rs12905900	0.81[CEU][hapmap];0.85[CHB][hapmap];0.87[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12906042	0.83[CHB][hapmap];0.89[JPT][hapmap]
rs12906873	0.81[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12906936	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12908670	0.82[AMR][1000 genomes]
rs12909811	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12910094	0.82[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.80[AMR][1000 genomes]
rs12912210	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs12912868	0.91[JPT][hapmap]
rs12914182	0.81[EUR][1000 genomes]
rs12914425	0.90[JPT][hapmap]
rs12914625	0.85[EUR][1000 genomes]
rs12916237	0.81[CEU][hapmap];0.83[CHB][hapmap];0.85[JPT][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12916958	0.89[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12917247	0.86[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13313455	0.89[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap]
rs1430823	0.85[CEU][hapmap];0.85[CHB][hapmap];0.87[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1628067	0.96[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17239040	0.82[CEU][hapmap];0.85[CHB][hapmap];0.87[JPT][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17819700	0.85[CHB][hapmap];0.87[JPT][hapmap];0.84[EUR][1000 genomes]
rs1814585	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs1820995	0.93[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1867641	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs2053472	0.82[AMR][1000 genomes]
rs2111891	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2116065	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2116066	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs213149	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs213164	0.82[AMR][1000 genomes]
rs2169466	0.91[JPT][hapmap]
rs2290938	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs2414490	0.82[CEU][hapmap];0.85[CHB][hapmap];0.87[JPT][hapmap];0.86[EUR][1000 genomes]
rs2414491	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs2414492	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs2435907	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2439918	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2439919	0.83[ASN][1000 genomes]
rs2464429	0.93[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2464430	0.93[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2464431	0.81[ASN][1000 genomes]
rs2470079	0.92[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2470082	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2583108	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2585082	0.81[CEU][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2585087	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2585088	0.93[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2585102	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2585112	0.92[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2615231	0.89[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap]
rs2703576	0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2703577	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2703580	0.92[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2733170	0.92[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2733171	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2733174	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2733176	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2733177	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2733181	0.80[AMR][1000 genomes]
rs2733182	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2733185	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2733188	0.93[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap]
rs2733332	0.92[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap]
rs2920264	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2920265	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2920267	0.93[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2920269	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2951895	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2951899	0.84[CEU][hapmap];0.85[JPT][hapmap]
rs2951901	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2951903	0.92[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2951904	0.92[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2951906	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2957574	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2962990	0.92[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2962991	0.93[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2962992	0.88[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34262415	0.81[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35646942	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3794613	0.91[JPT][hapmap]
rs3803454	0.82[CEU][hapmap];0.84[CHB][hapmap];0.87[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3803455	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs4774250	0.80[CHB][hapmap]
rs4774898	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs4774899	0.82[AMR][1000 genomes]
rs4774902	0.82[CEU][hapmap];0.85[CHB][hapmap];0.87[JPT][hapmap];0.83[EUR][1000 genomes]
rs4774910	0.91[JPT][hapmap]
rs4774913	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs62022986	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62022988	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62025331	0.84[AMR][1000 genomes]
rs6493901	0.91[JPT][hapmap]
rs715338	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs7161965	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs7170133	0.84[EUR][1000 genomes]
rs7175436	0.88[CEU][hapmap];0.84[CHB][hapmap];0.90[JPT][hapmap]
rs745652	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs7496293	0.82[CEU][hapmap];0.84[CHB][hapmap];0.87[JPT][hapmap];0.84[EUR][1000 genomes]
rs8037901	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs967514	0.88[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap]
rs978274	0.85[CHB][hapmap];0.91[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042486	chr15:57094598-57505992	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv1052052	chr15:57232111-57344561	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv542394	chr15:57232111-57344561	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv904251	chr15:57241970-57575916	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57311000-57347000	Weak transcription	Fetal Intestine Large	intestine
2	chr15:57316400-57345400	Weak transcription	Fetal Intestine Small	intestine
3	chr15:57324400-57349200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr15:57324600-57355800	Weak transcription	Primary B cells from cord blood	blood
5	chr15:57324600-57398600	Weak transcription	Fetal Muscle Leg	muscle
6	chr15:57324800-57347200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr15:57324800-57349400	Weak transcription	Right Ventricle	heart
8	chr15:57328200-57353600	Weak transcription	Pancreas	Pancrea
9	chr15:57328400-57345800	Weak transcription	Left Ventricle	heart
10	chr15:57328600-57355000	Weak transcription	Dnd41	blood
11	chr15:57329800-57349600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr15:57329800-57351400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr15:57332000-57345200	Weak transcription	HepG2	liver
14	chr15:57332000-57346000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr15:57332000-57349200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr15:57332000-57349400	Weak transcription	Thymus	Thymus
17	chr15:57332000-57355800	Weak transcription	Primary B cells from peripheral blood	blood
18	chr15:57332800-57345800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr15:57333400-57349400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr15:57334000-57345000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr15:57334000-57346000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr15:57334000-57346200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr15:57335000-57347400	Weak transcription	Lung	lung
24	chr15:57335400-57349000	Weak transcription	NHEK	skin
25	chr15:57335600-57345400	Weak transcription	HUVEC	blood vessel
26	chr15:57336400-57345000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr15:57336600-57349200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr15:57336600-57371800	Weak transcription	K562	blood
29	chr15:57336800-57346000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr15:57336800-57349000	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr15:57337200-57345800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr15:57337400-57349200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr15:57337600-57345600	Weak transcription	Fetal Lung	lung
34	chr15:57337600-57351200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr15:57338200-57350000	Weak transcription	Fetal Heart	heart
36	chr15:57338600-57345000	Weak transcription	Colon Smooth Muscle	Colon
37	chr15:57339000-57345800	Weak transcription	Psoas Muscle	Psoas
38	chr15:57339200-57350000	Weak transcription	HSMM	muscle
39	chr15:57339600-57349800	Weak transcription	Primary T cells from cord blood	blood
40	chr15:57339600-57349800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr15:57339600-57355600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr15:57339800-57361600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr15:57340200-57372600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr15:57341000-57347000	Enhancers	Brain Substantia Nigra	brain
45	chr15:57341600-57346000	Weak transcription	Fetal Stomach	stomach
46	chr15:57341600-57348800	Weak transcription	Osteobl	bone
47	chr15:57341800-57345000	Weak transcription	Brain Angular Gyrus	brain
48	chr15:57341800-57345600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr15:57341800-57345800	Weak transcription	Fetal Thymus	thymus
50	chr15:57341800-57346000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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