Variant report

Variant	rs4372632
Chromosome Location	chr15:62345083-62345084
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:62343215..62348016-chr15:62348672..62353157,7	K562	blood:
2	chr15:62343402..62345177-chr15:62352458..62354579,2	MCF-7	breast:
3	chr15:62344281..62348307-chr15:62349170..62353134,6	K562	blood:

Variant related genes	Relation type
ENSG00000259251	Chromatin interaction
ENSG00000129003	Chromatin interaction

Extended variants
information (count: 117 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs1030860	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1030861	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1046156	0.80[CEU][hapmap]
rs10468027	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10519153	1.00[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10851704	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10851705	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10851707	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11071634	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11071635	0.89[CEU][hapmap];0.95[JPT][hapmap]
rs11071639	0.83[ASN][1000 genomes]
rs11071641	0.95[JPT][hapmap]
rs11071647	0.92[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes]
rs11071648	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11071650	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11629528	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11630347	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11631013	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11631970	0.82[CEU][hapmap]
rs11632441	0.86[EUR][1000 genomes]
rs11632842	0.82[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11634516	0.88[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap]
rs11634693	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11635621	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11639147	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12438431	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12439330	0.81[ASN][1000 genomes]
rs12439934	0.81[JPT][hapmap]
rs12442589	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12443311	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12592464	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12593844	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs12593860	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12595300	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12708468	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12708470	0.82[CEU][hapmap]
rs12898209	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12899801	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs12900703	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12901481	0.82[CEU][hapmap]
rs12901575	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12902092	0.88[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap]
rs12910541	0.91[CHB][hapmap];0.90[JPT][hapmap]
rs12912208	0.82[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.80[YRI][hapmap];0.82[ASN][1000 genomes]
rs12917535	0.85[AMR][1000 genomes]
rs1364810	0.92[CEU][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1370177	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1436961	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1436965	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1436966	0.82[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs1534542	0.89[CEU][hapmap];0.85[YRI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1561197	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17238252	0.86[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap]
rs17271235	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs17303968	0.82[CEU][hapmap];0.90[JPT][hapmap]
rs17304010	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1836996	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1991205	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2042608	0.81[JPT][hapmap]
rs2042610	0.93[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes]
rs2113932	0.89[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes]
rs2113933	0.89[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap]
rs2162064	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2241491	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2414754	0.82[CEU][hapmap]
rs2414756	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2414758	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2414759	0.87[EUR][1000 genomes]
rs28413840	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28472272	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs28587331	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs28591222	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs28725250	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2899678	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3210522	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3743294	0.93[CEU][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3784445	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs3809517	0.92[CEU][hapmap]
rs4143841	0.82[EUR][1000 genomes]
rs4541010	0.85[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes]
rs4620905	0.85[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap]
rs4638519	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4774425	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4775442	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4775444	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4775445	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4775447	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4775451	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6494299	0.89[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap]
rs6494300	0.85[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap]
rs7161883	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7163326	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7163441	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7164933	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7168164	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8023668	0.82[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.90[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs8029942	0.82[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs8033816	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs8034185	0.83[CEU][hapmap]
rs8035049	0.84[AMR][1000 genomes]
rs8037603	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs8038328	0.82[CEU][hapmap];0.90[JPT][hapmap]
rs9635310	0.80[EUR][1000 genomes]
rs9788670	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs9989353	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9989354	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904288	chr15:62146598-62356386	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv904290	chr15:62175134-62356386	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv904294	chr15:62178695-62356386	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv457176	chr15:62178695-62519658	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv569643	chr15:62178695-62519658	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv471247	chr15:62202481-62519658	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv569646	chr15:62202482-62519658	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv1044748	chr15:62276183-62521856	Active TSS Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
9	nsv542405	chr15:62276183-62521856	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
10	nsv457178	chr15:62340126-62394324	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
11	nsv569652	chr15:62340126-62394324	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:62244600-62350400	Weak transcription	Small Intestine	intestine
2	chr15:62300400-62351400	Weak transcription	Fetal Muscle Leg	muscle
3	chr15:62300600-62345800	Weak transcription	Gastric	stomach
4	chr15:62300600-62351800	Weak transcription	Lung	lung
5	chr15:62300800-62351600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr15:62302200-62351600	Weak transcription	Fetal Thymus	thymus
7	chr15:62302200-62351600	Weak transcription	Ovary	ovary
8	chr15:62313400-62345600	Weak transcription	Brain Anterior Caudate	brain
9	chr15:62321200-62350800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr15:62328000-62345800	Weak transcription	Brain Hippocampus Middle	brain
11	chr15:62328000-62350000	Weak transcription	Brain Angular Gyrus	brain
12	chr15:62328200-62350800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr15:62328400-62350800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr15:62328400-62351200	Weak transcription	NHLF	lung
15	chr15:62328400-62351400	Weak transcription	Osteobl	bone
16	chr15:62328800-62350000	Weak transcription	HUVEC	blood vessel
17	chr15:62328800-62350800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr15:62329000-62350400	Weak transcription	NHDF-Ad	bronchial
19	chr15:62330800-62348600	Weak transcription	Fetal Intestine Small	intestine
20	chr15:62332600-62345400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr15:62333400-62351400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr15:62333600-62345400	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr15:62333600-62351400	Weak transcription	HSMM	muscle
24	chr15:62333800-62350600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr15:62335000-62345400	Weak transcription	Liver	Liver
26	chr15:62336000-62350400	Weak transcription	Fetal Intestine Large	intestine
27	chr15:62338800-62345600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr15:62338800-62345800	Weak transcription	Primary T cells from cord blood	blood
29	chr15:62339600-62345800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr15:62339600-62350800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr15:62340200-62346000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr15:62342200-62351400	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr15:62342600-62347600	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr15:62343000-62345600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr15:62343000-62345800	Weak transcription	Right Atrium	heart
36	chr15:62343000-62350600	Weak transcription	K562	blood
37	chr15:62343600-62346600	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr15:62343800-62348400	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr15:62344000-62345400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr15:62344000-62345400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr15:62344000-62345600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr15:62344000-62350400	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr15:62344000-62350800	Weak transcription	Brain Cingulate Gyrus	brain
44	chr15:62344000-62350800	Weak transcription	Left Ventricle	heart
45	chr15:62344000-62350800	Weak transcription	Stomach Smooth Muscle	stomach
46	chr15:62344000-62351200	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr15:62344400-62345200	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr15:62344400-62345600	Weak transcription	Brain Substantia Nigra	brain
49	chr15:62344600-62346200	Enhancers	Primary B cells from peripheral blood	blood
50	chr15:62344800-62345600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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