Variant report

Variant	rs9402313
Chromosome Location	chr6:131373265-131373266
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10872375	0.96[ASN][1000 genomes]
rs11154611	0.86[ASN][1000 genomes]
rs11760051	0.86[ASN][1000 genomes]
rs12195366	0.86[ASN][1000 genomes]
rs12196734	0.88[ASN][1000 genomes]
rs12197829	0.85[ASN][1000 genomes]
rs12203760	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12214021	0.98[ASN][1000 genomes]
rs1569195	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17059954	0.90[ASN][1000 genomes]
rs1976981	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2151068	0.99[ASN][1000 genomes]
rs2178282	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28812545	0.99[ASN][1000 genomes]
rs4259270	0.99[ASN][1000 genomes]
rs4498389	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62423583	0.85[ASN][1000 genomes]
rs6901548	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6902930	0.99[ASN][1000 genomes]
rs6903705	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6905151	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6907809	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6916206	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6921542	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6926372	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7763960	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7770892	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9321264	0.88[ASN][1000 genomes]
rs9372986	0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9372987	0.99[ASN][1000 genomes]
rs9372989	0.97[ASN][1000 genomes]
rs9375784	0.84[ASN][1000 genomes]
rs9375785	0.85[ASN][1000 genomes]
rs9375787	0.86[ASN][1000 genomes]
rs9375788	0.86[ASN][1000 genomes]
rs9375789	0.85[ASN][1000 genomes]
rs9375790	0.94[ASN][1000 genomes]
rs9375794	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9375795	0.90[ASN][1000 genomes]
rs9375796	0.98[ASN][1000 genomes]
rs9375797	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9388873	0.98[ASN][1000 genomes]
rs9388876	0.99[ASN][1000 genomes]
rs9398967	0.86[ASN][1000 genomes]
rs9398969	0.99[ASN][1000 genomes]
rs9398970	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9398971	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9398972	0.99[ASN][1000 genomes]
rs9398973	0.99[ASN][1000 genomes]
rs9402301	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9402306	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9402310	0.96[ASN][1000 genomes]
rs9402314	0.98[ASN][1000 genomes]
rs9483210	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9492790	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9492792	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs951251	0.96[ASN][1000 genomes]
rs954919	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9402313	EPB41L2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131346000-131375000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:131351400-131375000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:131351600-131374600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:131352400-131374400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:131356600-131375000	Weak transcription	Brain Angular Gyrus	brain
6	chr6:131359000-131374800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr6:131360800-131374800	Weak transcription	HSMM	muscle
8	chr6:131360800-131375000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr6:131361400-131373800	Weak transcription	Fetal Muscle Leg	muscle
10	chr6:131364400-131374600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr6:131367800-131374600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:131368200-131374800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr6:131368200-131375200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr6:131370400-131373600	Weak transcription	Fetal Lung	lung
15	chr6:131370400-131374600	Weak transcription	Brain Anterior Caudate	brain
16	chr6:131370600-131374600	Weak transcription	A549	lung
17	chr6:131371000-131374600	Weak transcription	Brain Hippocampus Middle	brain
18	chr6:131371000-131375000	Weak transcription	Brain Substantia Nigra	brain
19	chr6:131371200-131374200	Weak transcription	Fetal Stomach	stomach
20	chr6:131371200-131374600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:131371200-131374800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr6:131371200-131374800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr6:131371800-131375000	Weak transcription	Colon Smooth Muscle	Colon
24	chr6:131372200-131373600	Weak transcription	NHEK	skin
25	chr6:131372200-131374000	Enhancers	NHLF	lung
26	chr6:131372200-131374600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr6:131372200-131375000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr6:131372400-131374600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr6:131372400-131374600	Weak transcription	HUVEC	blood vessel
30	chr6:131372600-131374000	Enhancers	HepG2	liver
31	chr6:131372600-131374800	Weak transcription	Adipose Nuclei	Adipose
32	chr6:131372600-131374800	Weak transcription	Osteobl	bone
33	chr6:131372800-131374600	Weak transcription	NHDF-Ad	bronchial
34	chr6:131373000-131374400	Weak transcription	HMEC	breast
35	chr6:131373200-131373400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr6:131373200-131373400	Enhancers	Ovary	ovary

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