Variant report

Variant	rs17239508
Chromosome Location	chr15:57553990-57553991
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:57548444..57552670-chr15:57553195..57556981,4	K562	blood:
2	chr15:57549403..57551171-chr15:57553195..57555011,2	K562	blood:

Extended variants
information (count: 133 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:128)

rs_ID	r²[population]
rs1037956	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1037958	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10518894	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs10518895	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10518899	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs11071309	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11629653	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11630910	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11631084	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11631541	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11632069	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11633061	0.82[EUR][1000 genomes]
rs11634352	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11635440	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11636201	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11636340	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11636348	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11636919	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11637955	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11852340	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs11853331	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11855648	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11856055	0.81[EUR][1000 genomes]
rs11856073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11857507	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11857722	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11858783	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12050751	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs12050758	0.83[EUR][1000 genomes]
rs12898327	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12898356	0.82[EUR][1000 genomes]
rs12899036	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12899588	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12900589	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs12900874	0.81[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs12901671	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12902099	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12902170	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12902581	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12903115	0.84[EUR][1000 genomes]
rs12903151	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12903221	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12904189	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12904321	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12904501	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12904561	0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs12904602	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs12904634	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12904933	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12906042	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12906335	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12906566	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12908278	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12908760	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12909016	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12909696	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12910094	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs12910109	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12910556	0.81[EUR][1000 genomes]
rs12910832	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12911256	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12911297	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12911518	0.85[EUR][1000 genomes]
rs12912210	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12912353	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12912392	0.80[EUR][1000 genomes]
rs12912868	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12914425	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12914481	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12915489	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12916478	0.85[EUR][1000 genomes]
rs12917093	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12917247	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13313455	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs1462156	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs1545728	0.95[CEU][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17239431	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1814585	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1867641	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2169466	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs2278685	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2290938	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2414491	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2414492	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2414497	0.81[EUR][1000 genomes]
rs2431023	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2441925	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2585112	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs2593235	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2593237	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2593238	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2615231	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs2703576	0.84[CHB][hapmap];0.90[JPT][hapmap]
rs2733188	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs2733332	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs2733341	0.82[ASN][1000 genomes]
rs2951899	0.85[JPT][hapmap]
rs2951903	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs2951904	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs3095821	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3794613	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4238321	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4238322	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4303429	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4353440	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4369592	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4447362	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4774250	0.88[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes]
rs4774251	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4774252	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4774910	0.80[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs4774913	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4774918	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4774919	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5014892	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61996955	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61996957	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62022237	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6493901	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs7161965	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7175436	0.90[JPT][hapmap]
rs745652	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8037901	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs898901	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs935326	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs960946	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs967514	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs978274	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1045611	chr15:57350965-58070807	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv457164	chr15:57495060-57559387	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv569578	chr15:57495060-57559387	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv833021	chr15:57495413-57751366	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57511800-57565000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr15:57520400-57576000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr15:57522400-57565400	Weak transcription	Spleen	Spleen
4	chr15:57522800-57585000	Strong transcription	Fetal Thymus	thymus
5	chr15:57525600-57556800	Weak transcription	Pancreas	Pancrea
6	chr15:57526600-57554400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr15:57526600-57574200	Weak transcription	Hela-S3	cervix
8	chr15:57526800-57554200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr15:57528400-57554800	Weak transcription	NHEK	skin
10	chr15:57533600-57568800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr15:57536800-57574200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr15:57537800-57555200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:57537800-57598200	Weak transcription	Colonic Mucosa	Colon
14	chr15:57538400-57564800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr15:57538800-57554200	Weak transcription	Fetal Brain Female	brain
16	chr15:57539400-57554400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr15:57539400-57574800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr15:57539600-57556800	Weak transcription	Gastric	stomach
19	chr15:57539600-57565200	Weak transcription	Aorta	Aorta
20	chr15:57539600-57565200	Weak transcription	Esophagus	oesophagus
21	chr15:57540000-57554400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr15:57540200-57555000	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr15:57540600-57556800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr15:57540600-57557000	Weak transcription	Lung	lung
25	chr15:57540600-57565400	Weak transcription	Ovary	ovary
26	chr15:57543000-57556400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr15:57543200-57565200	Weak transcription	Right Ventricle	heart
28	chr15:57544600-57574800	Weak transcription	Fetal Brain Male	brain
29	chr15:57545800-57554400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr15:57545800-57554400	Weak transcription	HMEC	breast
31	chr15:57545800-57554600	Weak transcription	Colon Smooth Muscle	Colon
32	chr15:57545800-57565200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr15:57546000-57554400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr15:57546000-57554400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr15:57546000-57554400	Weak transcription	A549	lung
36	chr15:57546000-57580600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr15:57546200-57554200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr15:57546600-57554200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr15:57546600-57554400	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr15:57546600-57554400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr15:57546800-57554200	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr15:57546800-57554400	Weak transcription	GM12878-XiMat	blood
43	chr15:57547000-57554200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr15:57548200-57556400	Weak transcription	Fetal Stomach	stomach
45	chr15:57548200-57578000	Weak transcription	Fetal Heart	heart
46	chr15:57548400-57554200	Weak transcription	HUVEC	blood vessel
47	chr15:57548400-57554600	Weak transcription	Stomach Smooth Muscle	stomach
48	chr15:57548600-57554000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr15:57548600-57554200	Weak transcription	Liver	Liver
50	chr15:57548600-57554400	Weak transcription	H9 Cell Line	embryonic stem cell

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