Variant report

Variant	rs9375787
Chromosome Location	chr6:131295636-131295637
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:131293556..131298037-chr6:131298805..131301642,4	K562	blood:

Variant related genes	Relation type
ENSG00000079819	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10457561	0.81[CEU][hapmap]
rs10872375	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11154611	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11760051	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12195366	0.93[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12196734	0.93[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12197829	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12203760	0.91[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs12214021	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1569195	0.92[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs17059954	0.93[CEU][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1976981	0.85[ASN][1000 genomes]
rs2151068	0.93[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2178282	0.86[ASN][1000 genomes]
rs28812545	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4259270	1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4498389	0.91[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs62423583	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6901548	0.86[ASN][1000 genomes]
rs6902930	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6903705	0.86[ASN][1000 genomes]
rs6905151	0.81[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs6907809	0.82[JPT][hapmap]
rs6916206	0.81[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs6921542	0.86[ASN][1000 genomes]
rs6926372	0.86[ASN][1000 genomes]
rs7763960	0.85[ASN][1000 genomes]
rs7770892	0.91[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs9321264	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9372987	0.93[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9372989	0.93[CEU][hapmap];0.91[CHB][hapmap];0.80[JPT][hapmap];1.00[YRI][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9375776	0.86[JPT][hapmap]
rs9375784	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9375785	0.87[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9375788	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9375789	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9375790	0.93[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9375794	0.91[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs9375795	0.91[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9375796	0.93[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9375797	0.91[CHB][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs9388855	0.86[JPT][hapmap]
rs9388873	0.93[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9388876	0.93[CEU][hapmap];0.91[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9388880	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9398967	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9398969	0.93[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9398970	0.86[ASN][1000 genomes]
rs9398971	0.91[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs9398972	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9398973	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9398975	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9398976	0.86[EUR][1000 genomes]
rs9402287	0.86[JPT][hapmap]
rs9402301	0.96[ASN][1000 genomes]
rs9402306	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs9402310	0.92[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9402313	0.86[ASN][1000 genomes]
rs9402314	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9483210	0.91[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs9492790	0.83[ASN][1000 genomes]
rs9492792	0.91[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs951251	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs954919	0.91[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9375787	EPB41L2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131253000-131302200	Weak transcription	Primary B cells from cord blood	blood
2	chr6:131272200-131301000	Weak transcription	Placenta	Placenta
3	chr6:131288200-131306600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:131289400-131296400	Weak transcription	HUVEC	blood vessel
5	chr6:131289600-131298200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:131289600-131300800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr6:131289800-131298000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:131291600-131298000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr6:131291600-131299200	Weak transcription	Pancreas	Pancrea
10	chr6:131291600-131299400	Weak transcription	Right Atrium	heart
11	chr6:131291800-131306200	Weak transcription	Fetal Intestine Small	intestine
12	chr6:131292000-131299400	Weak transcription	Brain Anterior Caudate	brain
13	chr6:131292200-131298200	Weak transcription	Brain Hippocampus Middle	brain
14	chr6:131292400-131296200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:131292400-131296400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:131292400-131298400	Weak transcription	Colon Smooth Muscle	Colon
17	chr6:131292400-131299600	Weak transcription	Fetal Stomach	stomach
18	chr6:131292400-131299800	Weak transcription	Left Ventricle	heart
19	chr6:131292400-131306400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr6:131292600-131296400	Weak transcription	NHDF-Ad	bronchial
21	chr6:131292600-131299400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:131292800-131296000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr6:131292800-131296000	Weak transcription	HSMM	muscle
24	chr6:131292800-131299200	Weak transcription	Fetal Lung	lung
25	chr6:131292800-131299400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr6:131292800-131302000	Weak transcription	NHLF	lung
27	chr6:131294800-131295800	Enhancers	Hela-S3	cervix
28	chr6:131294800-131298200	Enhancers	K562	blood
29	chr6:131295400-131298400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:131295400-131299800	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr6:131295400-131301400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr6:131295600-131298000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr6:131295600-131298000	Weak transcription	Brain Substantia Nigra	brain
34	chr6:131295600-131298000	Weak transcription	HepG2	liver
35	chr6:131295600-131299800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr6:131295600-131300000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr6:131295600-131301400	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr6:131295600-131301400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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