Variant report

Variant	rs12914196
Chromosome Location	chr15:76941361-76941362
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 107 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1011083	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1011084	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10152247	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10851888	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10851889	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11072600	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11072602	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11072607	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11072610	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11072612	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11072616	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11072618	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11072619	0.82[EUR][1000 genomes]
rs11072620	0.82[EUR][1000 genomes]
rs11072625	0.81[EUR][1000 genomes]
rs11072628	0.81[EUR][1000 genomes]
rs11629727	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11630402	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11631082	0.83[EUR][1000 genomes]
rs11631394	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11632670	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11632765	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11635273	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11637096	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11852395	0.81[EUR][1000 genomes]
rs11852777	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11854850	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11855296	0.81[EUR][1000 genomes]
rs11855762	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12437981	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12439141	0.82[EUR][1000 genomes]
rs12440511	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12440965	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12591622	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12898416	0.83[EUR][1000 genomes]
rs12898810	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12904149	0.83[EUR][1000 genomes]
rs12904417	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12905181	0.81[EUR][1000 genomes]
rs12910081	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12910820	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1443115	0.83[EUR][1000 genomes]
rs1603860	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1809875	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2047504	0.85[EUR][1000 genomes]
rs2120109	0.96[AFR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2164102	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2404604	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2404734	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2436996	0.82[EUR][1000 genomes]
rs2454450	0.82[EUR][1000 genomes]
rs2454451	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2459361	0.81[EUR][1000 genomes]
rs28823285	0.81[EUR][1000 genomes]
rs28895952	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34103231	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34215663	0.81[EUR][1000 genomes]
rs34998733	0.81[EUR][1000 genomes]
rs35374222	0.82[EUR][1000 genomes]
rs35710279	0.81[EUR][1000 genomes]
rs36114653	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4886816	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4886819	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55746932	0.81[EUR][1000 genomes]
rs56339024	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57682236	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60702982	0.80[EUR][1000 genomes]
rs62026889	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62026898	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7165053	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7178250	0.81[EUR][1000 genomes]
rs7181506	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8029283	0.90[EUR][1000 genomes]
rs920712	0.83[EUR][1000 genomes]
rs965818	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:32 , 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	nsv471254	chr15:76811390-76978139	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
6	nsv570021	chr15:76813920-76978139	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
7	nsv570022	chr15:76816015-76978139	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
8	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
9	nsv1042089	chr15:76855098-77016127	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
10	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
11	nsv1042623	chr15:76863437-76999030	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
12	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
13	nsv904403	chr15:76869929-76951040	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
14	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
15	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
16	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
17	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
18	nsv1052133	chr15:76878362-76962756	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
19	nsv570023	chr15:76884127-76978139	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	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
21	nsv1046858	chr15:76892097-77020971	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	nsv542440	chr15:76892097-77020971	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	nsv570109	chr15:76907376-76978139	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
31	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
32	nsv904413	chr15:76923917-76995150	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs12914196	SCAPER	cis	Adipose Subcutaneous	GTEx
rs12914196	SCAPER	cis	Whole Blood	GTEx
rs12914196	SCAPER	cis	Nerve Tibial	GTEx
rs12914196	SCAPER	cis	Thyroid	GTEx
rs12914196	ISL2	Cis_1M	lymphoblastoid	RTeQTL
rs12914196	SCAPER	cis	Esophagus Muscularis	GTEx
rs12914196	SCAPER	cis	Artery Tibial	GTEx
rs12914196	SCAPER	Cis_1M	lymphoblastoid	RTeQTL
rs12914196	SCAPER	cis	Esophagus Mucosa	GTEx
rs12914196	SCAPER	cis	Skin Sun Exposed Lower leg	GTEx
rs12914196	SCAPER	cis	lung	GTEx
rs12914196	SCAPER	cis	Muscle Skeletal	GTEx

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76882200-76991400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr15:76898400-76981000	Weak transcription	Pancreas	Pancrea
3	chr15:76902600-76992000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr15:76906000-76946800	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr15:76910000-76964200	Weak transcription	Brain Hippocampus Middle	brain
6	chr15:76910200-76959400	Weak transcription	Brain Substantia Nigra	brain
7	chr15:76911400-76990800	Weak transcription	Placenta	Placenta
8	chr15:76914000-76952600	Weak transcription	Brain Angular Gyrus	brain
9	chr15:76918200-76951600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr15:76923200-76948400	Weak transcription	Fetal Heart	heart
11	chr15:76926200-76962000	Weak transcription	Gastric	stomach
12	chr15:76926600-76941600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr15:76926600-76974600	Weak transcription	Esophagus	oesophagus
14	chr15:76926800-76946600	Weak transcription	Fetal Thymus	thymus
15	chr15:76928000-76943600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr15:76929200-76954200	Weak transcription	Adipose Nuclei	Adipose
17	chr15:76929200-76955800	Weak transcription	Psoas Muscle	Psoas
18	chr15:76929200-76959200	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr15:76929400-76953200	Weak transcription	Fetal Muscle Trunk	muscle
20	chr15:76933200-76974800	Weak transcription	Thymus	Thymus
21	chr15:76933400-76947400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr15:76933800-76947000	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr15:76933800-76961800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr15:76934000-76943400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr15:76934200-76954800	Weak transcription	Brain Germinal Matrix	brain
26	chr15:76934400-76948600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr15:76935800-76947000	Weak transcription	Dnd41	blood
28	chr15:76936200-76947000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr15:76936600-76991800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr15:76937400-76958000	Weak transcription	Fetal Lung	lung
31	chr15:76938200-76946800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr15:76938800-76946800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr15:76938800-76959000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr15:76939000-76967800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr15:76939400-76942400	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr15:76939800-76941800	Strong transcription	Aorta	Aorta
37	chr15:76939800-76942000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr15:76940000-76941400	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr15:76940000-76941800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
40	chr15:76940000-76942800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr15:76940000-76970800	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr15:76940200-76960400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr15:76940200-76991800	Weak transcription	Left Ventricle	heart
44	chr15:76940400-76941400	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr15:76940600-76941800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
46	chr15:76940600-76941800	ZNF genes & repeats	Primary T cells from cord blood	blood
47	chr15:76940800-76941400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
48	chr15:76940800-76941600	ZNF genes & repeats	Right Ventricle	heart
49	chr15:76940800-76941800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr15:76940800-76941800	ZNF genes & repeats	Fetal Intestine Small	intestine

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