Variant report

Variant	rs954919
Chromosome Location	chr6:131330779-131330780
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	chr6:131314347..131316651-chr6:131330693..131332360,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10457561	0.83[CEU][hapmap]
rs10457563	0.82[CEU][hapmap]
rs10872375	0.96[ASN][1000 genomes]
rs11154611	0.86[ASN][1000 genomes]
rs11760051	0.91[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs12195366	0.83[CEU][hapmap];0.96[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs12196734	0.82[CEU][hapmap];0.96[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs12197829	0.91[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs12203760	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12214021	0.98[ASN][1000 genomes]
rs13214846	0.85[AFR][1000 genomes]
rs1569195	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17059954	0.88[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs1976981	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2151068	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2178282	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28812545	0.99[ASN][1000 genomes]
rs3734186	0.82[CHB][hapmap]
rs4259270	0.99[ASN][1000 genomes]
rs4498389	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62423583	0.85[ASN][1000 genomes]
rs6901548	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6902930	0.99[ASN][1000 genomes]
rs6903705	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6905151	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6907809	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6916206	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6921542	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6926372	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7763960	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7767569	0.89[YRI][hapmap];0.87[AFR][1000 genomes]
rs7770892	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9321264	0.88[ASN][1000 genomes]
rs9372986	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9372987	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs9372989	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs9375784	0.84[ASN][1000 genomes]
rs9375785	0.87[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs9375787	0.91[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs9375788	0.91[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs9375789	0.91[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs9375790	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs9375794	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9375795	0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs9375796	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs9375797	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9388855	0.82[CHB][hapmap]
rs9388873	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs9388876	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs9398967	0.91[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs9398969	0.83[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs9398970	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9398971	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[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	0.83[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9402310	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs9402313	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9402314	0.98[ASN][1000 genomes]
rs9483210	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9492790	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9492792	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs951251	0.96[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
rs954919	EPB41L2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131322600-131333200	Weak transcription	Pancreas	Pancrea
2	chr6:131324000-131334200	Weak transcription	Small Intestine	intestine
3	chr6:131326000-131333800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr6:131327000-131331200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:131327000-131333200	Weak transcription	Ovary	ovary
6	chr6:131327800-131331200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:131328400-131332200	Weak transcription	Brain Hippocampus Middle	brain
8	chr6:131328400-131334800	Weak transcription	A549	lung
9	chr6:131329600-131333800	Weak transcription	Brain Angular Gyrus	brain
10	chr6:131329800-131331000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:131329800-131332000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:131329800-131332000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr6:131329800-131332200	Weak transcription	Brain Substantia Nigra	brain
14	chr6:131329800-131333200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
15	chr6:131329800-131334600	Weak transcription	Fetal Stomach	stomach
16	chr6:131329800-131334800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr6:131329800-131334800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:131329800-131336400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr6:131329800-131347400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:131330000-131335000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr6:131330000-131335000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:131330200-131334800	Weak transcription	Fetal Muscle Leg	muscle
23	chr6:131330200-131335400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr6:131330400-131333600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr6:131330400-131336400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr6:131330600-131334400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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