Variant report

Variant	rs11634693
Chromosome Location	chr15:62268186-62268187
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:62259986..62262200-chr15:62266004..62268197,2	K562	blood:
2	chr15:62266682..62269656-chr15:62302600..62304271,2	K562	blood:

Extended variants
information (count: 131 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs1030860	0.81[AFR][1000 genomes]
rs1030861	0.81[AFR][1000 genomes]
rs10468027	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10519153	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10851703	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10851704	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10851705	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11071634	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11071635	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11071636	0.82[EUR][1000 genomes]
rs11071639	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11071641	0.85[AMR][1000 genomes]
rs11071647	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11071648	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11071650	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11629528	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11630347	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11631013	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11632774	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11632842	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11634516	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11635621	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11636504	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11638344	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11639147	0.83[EUR][1000 genomes]
rs12438431	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12439330	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12443311	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12592464	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12593860	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12595300	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12708468	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12708469	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12898209	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12901171	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12901575	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12902092	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12902409	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12909692	0.83[EUR][1000 genomes]
rs12917535	0.84[AMR][1000 genomes]
rs1346036	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1364810	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1370177	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1436965	0.80[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1561197	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17238252	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17271235	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17303968	0.87[AMR][1000 genomes]
rs17304010	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1991205	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2042610	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2059470	0.82[EUR][1000 genomes]
rs2059471	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2098850	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2113932	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2113933	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2162064	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2216999	0.81[EUR][1000 genomes]
rs2241491	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2414754	0.86[EUR][1000 genomes]
rs2414756	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2414758	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs28413840	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28472272	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28587331	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28591222	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28725250	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2899678	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3210522	0.84[AFR][1000 genomes]
rs3743294	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3784445	0.86[EUR][1000 genomes]
rs3809517	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3886246	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4372632	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4541010	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4581655	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4620905	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4638519	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4774425	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4775442	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4775443	0.83[AFR][1000 genomes]
rs4775447	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4775448	0.81[EUR][1000 genomes]
rs4775451	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56215106	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6494299	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6494300	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7161883	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7163441	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7164933	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7167876	0.89[AFR][1000 genomes]
rs7168164	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7172838	0.83[AMR][1000 genomes]
rs7174017	0.80[AMR][1000 genomes]
rs7402374	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8025282	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8028217	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8035049	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8038328	0.83[AMR][1000 genomes]
rs9635310	0.83[EUR][1000 genomes]
rs9788670	0.82[AMR][1000 genomes]
rs9920945	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9989354	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521334	chr15:62129809-62340126	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv527451	chr15:62129809-62340126	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv904286	chr15:62146598-62313373	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv904287	chr15:62146598-62338797	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	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
6	nsv569641	chr15:62155282-62287456	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv904289	chr15:62156690-62287456	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv516639	chr15:62175134-62340126	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	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
10	nsv904291	chr15:62178695-62287456	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv904292	chr15:62178695-62313373	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv904293	chr15:62178695-62338797	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	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
14	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
15	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
16	nsv904296	chr15:62198564-62313373	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	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
18	nsv904297	chr15:62202482-62313373	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv569645	chr15:62202482-62319307	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	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
21	esv1816724	chr15:62205104-62285146	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
22	nsv569647	chr15:62214607-62284101	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
23	nsv904298	chr15:62218689-62338797	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
24	nsv569648	chr15:62239697-62340126	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
25	nsv457177	chr15:62243197-62301094	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
26	nsv569649	chr15:62243197-62301094	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
27	nsv569650	chr15:62243197-62313373	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
28	nsv569651	chr15:62243197-62313417	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:62150000-62276200	Weak transcription	Psoas Muscle	Psoas
2	chr15:62185600-62333600	Weak transcription	Right Ventricle	heart
3	chr15:62185800-62300000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr15:62188600-62309400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr15:62195600-62285400	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr15:62208200-62290200	Weak transcription	Aorta	Aorta
7	chr15:62221400-62327600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr15:62229400-62280200	Weak transcription	K562	blood
9	chr15:62230800-62317200	Weak transcription	Pancreas	Pancrea
10	chr15:62235600-62277400	Strong transcription	Primary B cells from peripheral blood	blood
11	chr15:62235800-62285000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr15:62244600-62350400	Weak transcription	Small Intestine	intestine
13	chr15:62244800-62278600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr15:62245800-62278400	Strong transcription	Dnd41	blood
15	chr15:62248000-62281400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr15:62254000-62303600	Weak transcription	Spleen	Spleen
17	chr15:62254200-62287800	Weak transcription	Lung	lung
18	chr15:62254200-62297800	Weak transcription	Fetal Intestine Small	intestine
19	chr15:62255200-62268600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr15:62255200-62275800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr15:62255800-62276600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr15:62257200-62276000	Weak transcription	HSMMtube	muscle
23	chr15:62258000-62272400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr15:62259200-62276000	Weak transcription	HMEC	breast
25	chr15:62259400-62276000	Weak transcription	Brain Substantia Nigra	brain
26	chr15:62259400-62327200	Weak transcription	HepG2	liver
27	chr15:62259600-62276000	Weak transcription	Brain Angular Gyrus	brain
28	chr15:62259600-62278200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr15:62261000-62279600	Weak transcription	Esophagus	oesophagus
30	chr15:62261400-62276600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr15:62262200-62269400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr15:62262200-62276400	Strong transcription	Duodenum Mucosa	Duodenum
33	chr15:62262600-62312600	Weak transcription	NHEK	skin
34	chr15:62262800-62271400	Strong transcription	HSMM	muscle
35	chr15:62263800-62276000	Weak transcription	Thymus	Thymus
36	chr15:62263800-62287800	Weak transcription	Fetal Stomach	stomach
37	chr15:62263800-62290200	Weak transcription	Gastric	stomach
38	chr15:62264000-62272000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr15:62264000-62276000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr15:62264000-62281600	Weak transcription	Fetal Brain Female	brain
41	chr15:62264000-62287000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr15:62264000-62312600	Weak transcription	Rectal Smooth Muscle	rectum
43	chr15:62264000-62323800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr15:62264000-62324000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr15:62264200-62274400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr15:62264200-62274800	Weak transcription	Colonic Mucosa	Colon
47	chr15:62264400-62281800	Weak transcription	Fetal Brain Male	brain
48	chr15:62264800-62270800	Weak transcription	Fetal Lung	lung
49	chr15:62264800-62272600	Weak transcription	Fetal Muscle Leg	muscle
50	chr15:62264800-62272800	Weak transcription	Placenta Amnion	Placenta Amnion

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