Variant report

Variant	rs11855534
Chromosome Location	chr15:77151560-77151561
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	chr15:77151146..77154145-chr15:77195611..77198369,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000140386	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 18 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs1011083	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs10444809	0.92[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10851889	0.95[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap]
rs10851892	0.91[CHB][hapmap];0.85[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap]
rs11072612	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs11072613	0.82[CHB][hapmap]
rs11072614	0.91[CHB][hapmap]
rs11072616	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs11072619	0.91[CHB][hapmap];0.89[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11072620	0.83[ASN][1000 genomes]
rs11072625	0.95[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11072626	0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11072628	0.89[ASN][1000 genomes]
rs11072631	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11072636	0.95[CHB][hapmap];0.89[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap]
rs11072637	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11630185	0.83[CHB][hapmap]
rs11631082	0.83[ASN][1000 genomes]
rs11632670	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs11632765	0.95[CHB][hapmap];0.89[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap]
rs11633309	0.83[CHB][hapmap]
rs11633869	0.95[CHB][hapmap];0.89[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11634266	0.84[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11634428	0.85[CHB][hapmap]
rs11636612	0.83[CHB][hapmap]
rs11637494	0.93[ASN][1000 genomes]
rs11852395	0.95[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs11855296	0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs12439141	0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12440511	0.95[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap]
rs12440691	0.91[ASN][1000 genomes]
rs12440965	0.95[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap]
rs12592686	0.93[ASN][1000 genomes]
rs12898416	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12904149	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12904417	0.95[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap]
rs12905181	0.83[ASN][1000 genomes]
rs12913024	0.91[ASN][1000 genomes]
rs12913730	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12915184	0.83[CHB][hapmap]
rs1443115	0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1484990	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1567671	0.91[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs2137311	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2280194	0.95[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs28823285	0.84[ASN][1000 genomes]
rs34215663	0.86[ASN][1000 genomes]
rs34998733	0.85[ASN][1000 genomes]
rs35374222	0.86[ASN][1000 genomes]
rs35710279	0.83[ASN][1000 genomes]
rs3764245	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs3812908	0.91[CHB][hapmap];0.85[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap]
rs3812909	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs4312276	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4886506	0.95[CHB][hapmap];0.83[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap]
rs4886823	0.83[CHB][hapmap]
rs4886837	0.95[CHB][hapmap];0.89[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.93[ASN][1000 genomes]
rs55746932	0.86[ASN][1000 genomes]
rs60702982	0.82[ASN][1000 genomes]
rs7165053	0.95[CHB][hapmap];0.89[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap]
rs7178250	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs8025991	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs907593	0.95[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap]
rs920712	0.95[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs9635380	0.95[CHB][hapmap];0.89[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
4	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
5	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
6	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
7	esv1803942	chr15:77151005-77210457	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:18)

SNP	Gene	Cis/trans	Tissue	Source
rs11855534	SCAPER	cis	lung	GTEx
rs11855534	SCAPER	cis	Adipose Subcutaneous	GTEx
rs11855534	SCAPER	cis	parietal	SCAN
rs11855534	ZNF291	cis	lesional skin	skin_eQTL
rs11855534	STOML1	cis	cerebellum	SCAN
rs11855534	SCAPER	cis	Whole Blood	GTEx
rs11855534	SCAPER	Cis_1M	lymphoblastoid	RTeQTL
rs11855534	ISL2	cis	Whole Blood	GTEx
rs11855534	NRG4	cis	parietal	SCAN
rs11855534	ISL2	cis	lymphoblastoid	seeQTL
rs11855534	SCAPER	cis	Artery Tibial	GTEx
rs11855534	SCAPER	cis	cerebellum	SCAN
rs11855534	ZNF291	cis	uninvolved skin	skin_eQTL
rs11855534	CRABP1	cis	parietal	SCAN
rs11855534	ISL2	Cis_1M	lymphoblastoid	RTeQTL
rs11855534	SCAPER	cis	Skin Sun Exposed Lower leg	GTEx
rs11855534	SCAPER	cis	Thyroid	GTEx
rs11855534	SCAPER	cis	lymphoblastoid	seeQTL

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77111600-77174200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr15:77112200-77196000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr15:77120400-77158400	Weak transcription	Colon Smooth Muscle	Colon
4	chr15:77123200-77153200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr15:77125800-77175400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr15:77131200-77155600	Weak transcription	Left Ventricle	heart
7	chr15:77133200-77196800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr15:77139800-77155600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr15:77139800-77158400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr15:77140000-77153600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr15:77140800-77195800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr15:77141400-77171600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr15:77141800-77168000	Weak transcription	Spleen	Spleen
14	chr15:77142000-77158000	Weak transcription	Brain Angular Gyrus	brain
15	chr15:77142000-77167200	Weak transcription	Esophagus	oesophagus
16	chr15:77142000-77167800	Weak transcription	Pancreas	Pancrea
17	chr15:77142000-77175800	Weak transcription	Fetal Brain Male	brain
18	chr15:77142000-77195800	Weak transcription	Right Ventricle	heart
19	chr15:77142200-77167600	Weak transcription	Lung	lung
20	chr15:77142800-77166400	Weak transcription	Thymus	Thymus
21	chr15:77144800-77179000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr15:77145000-77158000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr15:77145200-77158200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr15:77145200-77158400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr15:77146000-77153800	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr15:77146000-77155600	Weak transcription	Psoas Muscle	Psoas
27	chr15:77146200-77156000	Weak transcription	Ovary	ovary
28	chr15:77146200-77158000	Weak transcription	Brain Hippocampus Middle	brain
29	chr15:77146200-77175400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr15:77146400-77153200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr15:77146400-77153200	Weak transcription	GM12878-XiMat	blood
32	chr15:77146400-77153400	Weak transcription	Fetal Thymus	thymus
33	chr15:77146400-77153600	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr15:77146400-77158000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr15:77146400-77158200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr15:77146400-77158400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr15:77146400-77168000	Weak transcription	Primary T cells from cord blood	blood
38	chr15:77146400-77168200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr15:77146400-77196400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr15:77146600-77152800	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr15:77146600-77154200	Weak transcription	Fetal Muscle Trunk	muscle
42	chr15:77146600-77166000	Weak transcription	Fetal Intestine Small	intestine
43	chr15:77146600-77167800	Weak transcription	Aorta	Aorta
44	chr15:77146800-77167600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr15:77147200-77166200	Weak transcription	Fetal Stomach	stomach
46	chr15:77147800-77173800	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr15:77147800-77177200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr15:77148000-77167400	Weak transcription	Liver	Liver
49	chr15:77148200-77156000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr15:77148200-77169200	Weak transcription	Primary B cells from cord blood	blood

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