Variant report

Variant	rs36114653
Chromosome Location	chr15:77025393-77025394
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 106 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs1011083	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1011084	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10152247	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10851888	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10851889	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11072600	0.81[ASN][1000 genomes]
rs11072602	0.81[ASN][1000 genomes]
rs11072607	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11072610	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11072612	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11072613	0.82[AMR][1000 genomes]
rs11072616	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11072618	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11072619	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11072620	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11072625	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11072626	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11072628	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11072631	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11629727	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11630185	0.81[AMR][1000 genomes]
rs11630402	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11631082	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11631394	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11632670	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11632765	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11633309	0.82[AMR][1000 genomes]
rs11633869	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11634266	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11635162	0.82[AMR][1000 genomes]
rs11635273	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11637096	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11637494	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11852395	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11852777	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11855296	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11855762	0.84[EUR][1000 genomes]
rs12439141	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12440511	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12440691	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12440965	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12591622	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12592686	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12898416	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12898810	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12904149	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12904417	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12905181	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12910081	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12910820	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12913024	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12913730	0.81[ASN][1000 genomes]
rs12914196	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12915184	0.82[AMR][1000 genomes]
rs1443115	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1484990	0.84[ASN][1000 genomes]
rs1809875	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2137311	0.81[ASN][1000 genomes]
rs2404604	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2404734	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28823285	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34103231	0.84[EUR][1000 genomes]
rs34215663	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34998733	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35374222	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35710279	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4312276	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4886816	0.81[ASN][1000 genomes]
rs4886819	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4886837	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55746932	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56339024	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57682236	0.81[ASN][1000 genomes]
rs60702982	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62026889	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62026898	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7165053	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7178250	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7181506	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8025991	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs920712	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9635380	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs965818	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 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	nsv904404	chr15:76869929-77033934	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	nsv904409	chr15:76893186-77033934	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	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
19	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
20	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
21	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
22	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
23	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
rs36114653	SCAPER	cis	Muscle Skeletal	GTEx
rs36114653	SCAPER	cis	Whole Blood	GTEx
rs36114653	SCAPER	cis	lung	GTEx
rs36114653	SCAPER	cis	Thyroid	GTEx
rs36114653	SCAPER	cis	Esophagus Mucosa	GTEx
rs36114653	SCAPER	cis	Skin Sun Exposed Lower leg	GTEx
rs36114653	ISL2	Cis_1M	lymphoblastoid	RTeQTL
rs36114653	SCAPER	cis	Adipose Subcutaneous	GTEx
rs36114653	SCAPER	cis	Nerve Tibial	GTEx
rs36114653	SCAPER	cis	Artery Tibial	GTEx
rs36114653	SCAPER	cis	Esophagus Muscularis	GTEx
rs36114653	SCAPER	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:99 , 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	chr15:77007600-77029800	Weak transcription	Brain Angular Gyrus	brain
8	chr15:77008600-77030000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr15:77008800-77037400	Weak transcription	Fetal Brain Male	brain
10	chr15:77012800-77056200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr15:77016600-77056000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr15:77017200-77027200	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr15:77017600-77054400	Weak transcription	HSMMtube	muscle
14	chr15:77017800-77027800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr15:77018200-77051600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr15:77019000-77025800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr15:77019000-77025800	Strong transcription	Placenta	Placenta
18	chr15:77019200-77029600	Weak transcription	Fetal Kidney	kidney
19	chr15:77019200-77033800	Weak transcription	Fetal Heart	heart
20	chr15:77019400-77028400	Weak transcription	HepG2	liver
21	chr15:77019400-77032800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr15:77019600-77025400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr15:77019600-77030400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr15:77019600-77034000	Weak transcription	Small Intestine	intestine
25	chr15:77020800-77029000	Weak transcription	Fetal Lung	lung
26	chr15:77021000-77025600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr15:77021000-77030000	Weak transcription	Aorta	Aorta
28	chr15:77021000-77030000	Weak transcription	Brain Substantia Nigra	brain
29	chr15:77021000-77031800	Weak transcription	GM12878-XiMat	blood
30	chr15:77021000-77054200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr15:77021000-77055800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr15:77021000-77056000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr15:77021200-77028400	Weak transcription	Primary T cells from cord blood	blood
34	chr15:77021400-77029200	Weak transcription	Fetal Thymus	thymus
35	chr15:77021600-77031800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr15:77021600-77038600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr15:77022400-77032800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr15:77022600-77039800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr15:77022800-77036000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr15:77023200-77056000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr15:77023400-77056000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr15:77023600-77056400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr15:77023800-77025800	Strong transcription	Brain Hippocampus Middle	brain
44	chr15:77024000-77025600	Strong transcription	Brain Germinal Matrix	brain
45	chr15:77024000-77025800	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr15:77024000-77025800	Strong transcription	Liver	Liver
47	chr15:77024200-77025400	Strong transcription	Adipose Nuclei	Adipose
48	chr15:77024200-77026000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr15:77024400-77025600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr15:77024400-77025600	Strong transcription	Fetal Muscle Leg	muscle

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