Variant report

Variant	rs9385568
Chromosome Location	chr6:131291697-131291698
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr6:131290525-131291868	HepG2	liver:	n/a	n/a
2	CTCF	chr6:131291560-131291710	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
EPB41L2	TF binding region

Extended variants
information (count: 70 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs12525104	0.89[ASN][1000 genomes]
rs12525986	1.00[ASN][1000 genomes]
rs13437326	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs17178878	0.95[ASN][1000 genomes]
rs17179123	0.95[ASN][1000 genomes]
rs17180687	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs17180867	0.89[ASN][1000 genomes]
rs17770255	1.00[JPT][hapmap]
rs17784418	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17784472	0.89[ASN][1000 genomes]
rs17784896	0.87[ASN][1000 genomes]
rs17785507	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1811949	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1977576	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2095961	0.85[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2297853	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28482889	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs34899420	0.95[ASN][1000 genomes]
rs3777465	0.84[AFR][1000 genomes]
rs45550834	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4895901	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4895903	1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs4895904	0.89[ASN][1000 genomes]
rs4895906	0.89[ASN][1000 genomes]
rs4895907	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4895908	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4895909	0.89[ASN][1000 genomes]
rs4897473	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs4897478	0.95[ASN][1000 genomes]
rs4897484	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4897485	1.00[JPT][hapmap]
rs4897486	0.89[ASN][1000 genomes]
rs4897487	0.89[ASN][1000 genomes]
rs4897489	0.89[ASN][1000 genomes]
rs4897491	0.89[ASN][1000 genomes]
rs55898152	0.89[ASN][1000 genomes]
rs56163502	0.89[ASN][1000 genomes]
rs56173113	1.00[ASN][1000 genomes]
rs56201801	0.89[ASN][1000 genomes]
rs62422362	0.89[ASN][1000 genomes]
rs62422365	0.89[ASN][1000 genomes]
rs62422380	0.89[ASN][1000 genomes]
rs62423581	1.00[ASN][1000 genomes]
rs62423598	0.95[ASN][1000 genomes]
rs6906059	0.84[ASN][1000 genomes]
rs6906478	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs6908980	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6910656	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6916024	0.89[ASN][1000 genomes]
rs6921396	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6922045	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6922177	0.85[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6926250	1.00[CHB][hapmap]
rs6928920	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6931804	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6935108	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7741148	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7755720	1.00[ASN][1000 genomes]
rs7758016	0.87[ASN][1000 genomes]
rs7761311	0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs7769678	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7771543	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs872576	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9321263	0.84[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9372985	0.85[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9388872	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9402303	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs942	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9483206	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs954211	0.82[CHB][hapmap];1.00[JPT][hapmap]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9385568	EPB41L2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131253000-131302200	Weak transcription	Primary B cells from cord blood	blood
2	chr6:131267000-131294800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr6:131272200-131301000	Weak transcription	Placenta	Placenta
4	chr6:131286200-131293600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr6:131287600-131291800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
6	chr6:131288200-131306600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:131288400-131291800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:131288600-131292200	Weak transcription	K562	blood
9	chr6:131289000-131292000	Flanking Active TSS	Osteobl	bone
10	chr6:131289000-131294800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr6:131289200-131292200	Weak transcription	Fetal Thymus	thymus
12	chr6:131289200-131294800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr6:131289200-131294800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr6:131289400-131291800	Active TSS	NHLF	lung
15	chr6:131289400-131296400	Weak transcription	HUVEC	blood vessel
16	chr6:131289600-131291800	Active TSS	Ovary	ovary
17	chr6:131289600-131298200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:131289600-131300800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr6:131289800-131294400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr6:131289800-131294800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr6:131289800-131298000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr6:131290200-131294800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr6:131290400-131291800	Active TSS	Fetal Lung	lung
24	chr6:131290600-131291800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:131290800-131291800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr6:131290800-131291800	Active TSS	Adipose Nuclei	Adipose
27	chr6:131290800-131291800	Flanking Active TSS	HepG2	liver
28	chr6:131291200-131291800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:131291200-131294800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:131291400-131291800	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr6:131291400-131291800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr6:131291400-131291800	Flanking Active TSS	HSMMtube	muscle
33	chr6:131291400-131292000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr6:131291400-131292800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr6:131291600-131291800	Enhancers	Fetal Intestine Small	intestine
36	chr6:131291600-131291800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr6:131291600-131291800	Weak transcription	Left Ventricle	heart
38	chr6:131291600-131292000	Enhancers	Brain Anterior Caudate	brain
39	chr6:131291600-131292000	Weak transcription	Brain Hippocampus Middle	brain
40	chr6:131291600-131292000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr6:131291600-131292000	Enhancers	A549	lung
42	chr6:131291600-131292200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr6:131291600-131292200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr6:131291600-131292200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr6:131291600-131292400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr6:131291600-131292400	Enhancers	Colon Smooth Muscle	Colon
47	chr6:131291600-131292400	Weak transcription	Fetal Kidney	kidney
48	chr6:131291600-131292400	Enhancers	Fetal Muscle Leg	muscle
49	chr6:131291600-131292400	Enhancers	Fetal Stomach	stomach
50	chr6:131291600-131292600	Enhancers	NHDF-Ad	bronchial

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