Variant report

Variant	rs11072618
Chromosome Location	chr15:77019342-77019343
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:77017797..77020777-chr8:43093705..43096561,2	K562	blood:

Extended variants
information (count: 115 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs1011083	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1011084	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10152247	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10851888	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10851889	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11072600	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11072602	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11072607	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11072610	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11072611	0.82[AMR][1000 genomes]
rs11072612	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11072613	0.86[AMR][1000 genomes]
rs11072614	0.82[AMR][1000 genomes]
rs11072616	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11072619	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11072620	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11072625	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11072626	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11072628	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11072631	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11629727	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11630185	0.84[AMR][1000 genomes]
rs11630402	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11631082	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11631394	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11632670	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11632765	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11633309	0.86[AMR][1000 genomes]
rs11633869	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11634266	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11635162	0.86[AMR][1000 genomes]
rs11635273	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11637096	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11637494	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11852395	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11852777	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11854850	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11855296	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11855762	0.86[EUR][1000 genomes]
rs12437981	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12439141	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12440511	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12440691	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12440965	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12591622	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12592686	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12898416	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12898810	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12904149	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12904417	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12905181	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12910081	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12910820	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12913024	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12914196	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12915184	0.86[AMR][1000 genomes]
rs1443115	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1484990	0.81[ASN][1000 genomes]
rs1603860	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1809875	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2164102	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2404604	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2404734	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28823285	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28895952	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34103231	0.87[EUR][1000 genomes]
rs34215663	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34998733	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35374222	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35710279	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36114653	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3910756	0.82[AMR][1000 genomes]
rs4312276	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4886816	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4886819	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4886837	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55746932	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56339024	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57682236	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60702982	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62026889	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62026898	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7165053	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7178250	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7181506	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8025991	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8029283	0.81[EUR][1000 genomes]
rs920712	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9635380	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs965818	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 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	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
rs11072618	SCAPER	cis	Esophagus Mucosa	GTEx
rs11072618	SCAPER	Cis_1M	lymphoblastoid	RTeQTL
rs11072618	SCAPER	cis	Muscle Skeletal	GTEx
rs11072618	SCAPER	cis	Nerve Tibial	GTEx
rs11072618	SCAPER	cis	Skin Sun Exposed Lower leg	GTEx
rs11072618	SCAPER	cis	Esophagus Muscularis	GTEx
rs11072618	ISL2	Cis_1M	lymphoblastoid	RTeQTL
rs11072618	SCAPER	cis	lung	GTEx
rs11072618	SCAPER	cis	Whole Blood	GTEx
rs11072618	SCAPER	cis	Artery Tibial	GTEx
rs11072618	SCAPER	cis	Thyroid	GTEx
rs11072618	SCAPER	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:86 , 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	chr15:76990200-77025200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr15:76991000-77020400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr15:76992400-77056200	Weak transcription	Colon Smooth Muscle	Colon
5	chr15:76992400-77056200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr15:76992800-77056000	Weak transcription	Right Ventricle	heart
7	chr15:76993000-77020200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr15:76993000-77024800	Weak transcription	Gastric	stomach
9	chr15:76993000-77024800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr15:76993000-77024800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr15:76993000-77025000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr15:76993000-77025000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr15:76993200-77020200	Weak transcription	Brain Hippocampus Middle	brain
14	chr15:76993200-77056200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr15:76994200-77056000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr15:76994800-77020000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr15:76995800-77020400	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr15:76996000-77025000	Weak transcription	Left Ventricle	heart
19	chr15:77007000-77020200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr15:77007000-77025000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr15:77007600-77029800	Weak transcription	Brain Angular Gyrus	brain
22	chr15:77008200-77019400	Weak transcription	Fetal Thymus	thymus
23	chr15:77008200-77020600	Weak transcription	Aorta	Aorta
24	chr15:77008200-77025200	Weak transcription	Primary B cells from peripheral blood	blood
25	chr15:77008600-77020600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr15:77008600-77020600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr15:77008600-77024800	Weak transcription	Pancreas	Pancrea
28	chr15:77008600-77025200	Weak transcription	Esophagus	oesophagus
29	chr15:77008600-77030000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr15:77008800-77020200	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr15:77008800-77020600	Weak transcription	Stomach Smooth Muscle	stomach
32	chr15:77008800-77020800	Weak transcription	Fetal Stomach	stomach
33	chr15:77008800-77037400	Weak transcription	Fetal Brain Male	brain
34	chr15:77011800-77019800	Weak transcription	Brain Anterior Caudate	brain
35	chr15:77011800-77023400	Weak transcription	HUVEC	blood vessel
36	chr15:77012000-77020000	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr15:77012800-77056200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr15:77014800-77019600	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr15:77015000-77024800	Weak transcription	Lung	lung
40	chr15:77016000-77024800	Weak transcription	Spleen	Spleen
41	chr15:77016400-77024800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr15:77016400-77025000	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr15:77016600-77056000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr15:77016800-77025000	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr15:77017200-77019400	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr15:77017200-77021400	Strong transcription	Fetal Intestine Large	intestine
47	chr15:77017200-77021600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr15:77017200-77022000	Strong transcription	Liver	Liver
49	chr15:77017200-77027200	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr15:77017400-77024400	Weak transcription	Fetal Intestine Small	intestine

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