Variant report

Variant	rs11631082
Chromosome Location	chr15:77037682-77037683
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 99 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs1011083	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1011084	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10152247	0.83[EUR][1000 genomes]
rs10444809	0.81[ASN][1000 genomes]
rs10851888	0.81[EUR][1000 genomes]
rs10851889	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11072607	0.81[EUR][1000 genomes]
rs11072610	0.83[EUR][1000 genomes]
rs11072612	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11072616	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11072618	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11072619	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11072620	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11072625	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11072626	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11072628	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11072631	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11629727	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11630402	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11631394	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11632365	0.85[AMR][1000 genomes]
rs11632670	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11632765	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11633869	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11634266	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11634428	0.88[AMR][1000 genomes]
rs11635273	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11637096	0.83[EUR][1000 genomes]
rs11637494	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11852395	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11852777	0.81[EUR][1000 genomes]
rs11855296	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11855534	0.83[ASN][1000 genomes]
rs11855762	0.81[EUR][1000 genomes]
rs12439141	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12440511	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12440691	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12440965	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12591622	0.82[EUR][1000 genomes]
rs12592686	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12898416	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12898810	0.81[EUR][1000 genomes]
rs12904149	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12904417	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12905181	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12910081	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12910820	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12913024	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12913730	0.85[ASN][1000 genomes]
rs12914196	0.83[EUR][1000 genomes]
rs1443115	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1484990	0.91[ASN][1000 genomes]
rs1809875	0.83[EUR][1000 genomes]
rs2137311	0.85[ASN][1000 genomes]
rs2404604	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2404734	0.82[EUR][1000 genomes]
rs28823285	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34103231	0.82[EUR][1000 genomes]
rs34215663	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34998733	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35374222	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35710279	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36114653	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4312276	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4886819	0.80[EUR][1000 genomes]
rs4886837	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55746932	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56339024	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60702982	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62026889	0.81[EUR][1000 genomes]
rs62026898	0.83[EUR][1000 genomes]
rs62029232	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7165053	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7178250	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7181506	0.83[EUR][1000 genomes]
rs8025991	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs920712	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9635380	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv542439	chr15:76762161-77196336	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	esv3440794	chr15:76764595-77571114	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv904400	chr15:76772062-77085283	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1053924	chr15:76803849-77089079	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
5	nsv904401	chr15:76816015-77085283	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
6	esv2830013	chr15:76863023-77176158	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1039269	chr15:76863437-77057021	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
8	nsv904405	chr15:76869929-77047915	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
9	nsv904406	chr15:76869929-77085283	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
10	nsv904407	chr15:76869929-77121196	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
11	nsv904408	chr15:76884127-77085283	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv1043066	chr15:76892097-77057021	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv542441	chr15:76892097-77057021	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv1046137	chr15:76892097-77196336	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	nsv542442	chr15:76892097-77196336	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	nsv904410	chr15:76893186-77047915	ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv904411	chr15:76893186-77085283	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv904412	chr15:76910031-77085283	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
19	nsv457206	chr15:76971456-77121196	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	nsv570110	chr15:76971456-77121196	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
21	esv3367577	chr15:77015618-77442634	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs11631082	SCAPER	cis	Skin Sun Exposed Lower leg	GTEx
rs11631082	SCAPER	cis	lung	GTEx
rs11631082	ISL2	Cis_1M	lymphoblastoid	RTeQTL
rs11631082	SCAPER	cis	Esophagus Mucosa	GTEx
rs11631082	SCAPER	cis	Adipose Subcutaneous	GTEx
rs11631082	SCAPER	cis	Whole Blood	GTEx
rs11631082	SCAPER	cis	Esophagus Muscularis	GTEx
rs11631082	SCAPER	cis	Nerve Tibial	GTEx
rs11631082	SCAPER	cis	Artery Tibial	GTEx
rs11631082	SCAPER	cis	Muscle Skeletal	GTEx
rs11631082	SCAPER	cis	Thyroid	GTEx
rs11631082	SCAPER	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76989600-77055800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr15:76992400-77056200	Weak transcription	Colon Smooth Muscle	Colon
3	chr15:76992400-77056200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr15:76992800-77056000	Weak transcription	Right Ventricle	heart
5	chr15:76993200-77056200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr15:76994200-77056000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr15:77012800-77056200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr15:77016600-77056000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr15:77017600-77054400	Weak transcription	HSMMtube	muscle
10	chr15:77018200-77051600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr15:77021000-77054200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr15:77021000-77055800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr15:77021000-77056000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr15:77021600-77038600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr15:77022600-77039800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr15:77023200-77056000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr15:77023400-77056000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr15:77023600-77056400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr15:77025200-77056400	Weak transcription	Hela-S3	cervix
20	chr15:77025400-77039800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr15:77025400-77056400	Weak transcription	Esophagus	oesophagus
22	chr15:77025600-77039800	Weak transcription	Thymus	Thymus
23	chr15:77025600-77040000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr15:77025600-77040000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr15:77025600-77040000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr15:77025600-77040000	Weak transcription	Pancreas	Pancrea
27	chr15:77025600-77040000	Weak transcription	Spleen	Spleen
28	chr15:77025600-77045600	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr15:77025600-77054600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr15:77025600-77055400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr15:77025600-77056000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr15:77025600-77056400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr15:77025600-77056400	Weak transcription	Gastric	stomach
34	chr15:77025600-77056400	Weak transcription	Lung	lung
35	chr15:77025600-77056400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr15:77025800-77039400	Weak transcription	Brain Anterior Caudate	brain
37	chr15:77025800-77056000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr15:77025800-77056200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr15:77026200-77052800	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr15:77030200-77055400	Weak transcription	Fetal Kidney	kidney
41	chr15:77030600-77052200	Weak transcription	Brain Angular Gyrus	brain
42	chr15:77030800-77039200	Weak transcription	Brain Hippocampus Middle	brain
43	chr15:77030800-77056400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr15:77031000-77038600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr15:77031000-77039200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr15:77031000-77039600	Weak transcription	Fetal Intestine Small	intestine
47	chr15:77031000-77040000	Weak transcription	Aorta	Aorta
48	chr15:77031000-77051800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr15:77031000-77056200	Weak transcription	Fetal Stomach	stomach
50	chr15:77031800-77040000	Weak transcription	Primary T helper cells fromperipheralblood	blood

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