Variant report

Variant	rs7763960
Chromosome Location	chr6:131383686-131383687
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:131383272..131386235-chr6:131948272..131950497,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000112282	Chromatin interaction
ENSG00000154269	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10872375	0.94[ASN][1000 genomes]
rs11154611	0.85[ASN][1000 genomes]
rs11760051	0.85[ASN][1000 genomes]
rs12195366	0.85[ASN][1000 genomes]
rs12196734	0.86[ASN][1000 genomes]
rs12197829	0.84[ASN][1000 genomes]
rs12203760	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12214021	0.96[ASN][1000 genomes]
rs1569195	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17059954	0.89[ASN][1000 genomes]
rs1976981	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2151068	0.98[ASN][1000 genomes]
rs2178282	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28812545	0.98[ASN][1000 genomes]
rs4259270	0.98[ASN][1000 genomes]
rs4498389	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62423583	0.84[ASN][1000 genomes]
rs6901548	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6902930	0.98[ASN][1000 genomes]
rs6903705	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6905151	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6907809	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6916206	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6921542	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6926372	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7770892	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9321264	0.86[ASN][1000 genomes]
rs9372986	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9372987	0.98[ASN][1000 genomes]
rs9372989	0.99[ASN][1000 genomes]
rs9375784	0.83[ASN][1000 genomes]
rs9375785	0.84[ASN][1000 genomes]
rs9375787	0.85[ASN][1000 genomes]
rs9375788	0.85[ASN][1000 genomes]
rs9375789	0.84[ASN][1000 genomes]
rs9375790	0.93[ASN][1000 genomes]
rs9375794	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9375795	0.89[ASN][1000 genomes]
rs9375796	0.96[ASN][1000 genomes]
rs9375797	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9388873	0.96[ASN][1000 genomes]
rs9388876	0.98[ASN][1000 genomes]
rs9388880	0.80[ASN][1000 genomes]
rs9398967	0.85[ASN][1000 genomes]
rs9398969	0.98[ASN][1000 genomes]
rs9398970	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9398971	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9398972	0.98[ASN][1000 genomes]
rs9398973	0.98[ASN][1000 genomes]
rs9402301	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9402306	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9402310	0.95[ASN][1000 genomes]
rs9402313	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9402314	0.99[ASN][1000 genomes]
rs9483210	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9492790	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9492792	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs951251	0.97[ASN][1000 genomes]
rs954919	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032955	chr6:131298803-131818502	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538443	chr6:131298803-131818502	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv3370421	chr6:131383359-131385457	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7763960	EPB41L2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131381600-131384800	Active TSS	Rectal Smooth Muscle	rectum
2	chr6:131381600-131385000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr6:131381800-131384600	Active TSS	NHLF	lung
4	chr6:131381800-131384800	Active TSS	Brain Angular Gyrus	brain
5	chr6:131381800-131385000	Active TSS	Ovary	ovary
6	chr6:131381800-131385200	Active TSS	Brain Anterior Caudate	brain
7	chr6:131382000-131384800	Active TSS	A549	lung
8	chr6:131382000-131385000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:131382000-131385000	Active TSS	Brain Substantia Nigra	brain
10	chr6:131382200-131384800	Active TSS	Brain Cingulate Gyrus	brain
11	chr6:131382200-131384800	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr6:131382200-131384800	Active TSS	Fetal Muscle Trunk	muscle
13	chr6:131382200-131385000	Active TSS	Right Atrium	heart
14	chr6:131382200-131385200	Active TSS	Stomach Smooth Muscle	stomach
15	chr6:131382400-131384600	Active TSS	Colonic Mucosa	Colon
16	chr6:131382400-131384800	Active TSS	Colon Smooth Muscle	Colon
17	chr6:131382600-131383800	Flanking Active TSS	Primary T cells from cord blood	blood
18	chr6:131382600-131383800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr6:131382600-131383800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr6:131382600-131384200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
21	chr6:131382600-131384800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr6:131382600-131384800	Active TSS	Fetal Intestine Small	intestine
23	chr6:131382600-131384800	Active TSS	Left Ventricle	heart
24	chr6:131382600-131385000	Active TSS	Fetal Kidney	kidney
25	chr6:131382600-131385200	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr6:131382600-131385200	Active TSS	Right Ventricle	heart
27	chr6:131382800-131384200	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr6:131382800-131384200	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr6:131382800-131384400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
30	chr6:131382800-131384600	Active TSS	K562	blood
31	chr6:131382800-131384800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr6:131382800-131385000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr6:131382800-131385200	Active TSS	Aorta	Aorta
34	chr6:131383000-131383800	Bivalent/Poised TSS	HepG2	liver
35	chr6:131383000-131384600	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr6:131383000-131384600	Active TSS	Muscle Satellite Cultured Cells	--
37	chr6:131383000-131384600	Active TSS	GM12878-XiMat	blood
38	chr6:131383000-131384600	Active TSS	HSMMtube	muscle
39	chr6:131383000-131384800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr6:131383000-131384800	Active TSS	Brain Hippocampus Middle	brain
41	chr6:131383000-131384800	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr6:131383000-131384800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr6:131383000-131384800	Active TSS	Fetal Intestine Large	intestine
44	chr6:131383000-131384800	Active TSS	Fetal Lung	lung
45	chr6:131383000-131384800	Active TSS	Sigmoid Colon	Sigmoid Colon
46	chr6:131383000-131384800	Active TSS	HSMM	muscle
47	chr6:131383000-131384800	Active TSS	NHDF-Ad	bronchial
48	chr6:131383000-131384800	Active TSS	Osteobl	bone
49	chr6:131383000-131385000	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr6:131383000-131385000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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