Variant report

Variant	rs9372985
Chromosome Location	chr6:131290474-131290475
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:131288021..131290598-chr6:131292488..131295330,3	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1043596	0.83[CEU][hapmap]
rs12194612	0.84[CEU][hapmap]
rs12525986	0.82[ASN][1000 genomes]
rs13437326	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs17180687	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs17770255	1.00[JPT][hapmap]
rs17784418	1.00[JPT][hapmap]
rs17785507	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1811949	0.96[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]
rs1977576	0.82[EUR][1000 genomes]
rs2095961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2297853	0.96[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28482889	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs45550834	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4895901	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs4895903	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs4895907	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs4895908	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs4897473	1.00[JPT][hapmap]
rs4897483	0.91[ASN][1000 genomes]
rs4897484	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs4897485	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4897492	0.84[ASN][1000 genomes]
rs56173113	0.82[ASN][1000 genomes]
rs58503799	0.91[ASN][1000 genomes]
rs62423581	0.82[ASN][1000 genomes]
rs62423597	0.95[ASN][1000 genomes]
rs6906478	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6908980	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6910656	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6921396	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6922045	0.96[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]
rs6922177	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6926250	0.82[CHB][hapmap]
rs6928920	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs6931804	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs6935108	1.00[JPT][hapmap]
rs7741148	0.96[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]
rs7755720	0.82[ASN][1000 genomes]
rs7761311	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7769678	0.96[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]
rs7771543	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs867707	0.81[CEU][hapmap]
rs872576	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs915172	0.83[CEU][hapmap]
rs9321263	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs933063	0.88[CEU][hapmap]
rs9385568	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];1.00[ASN][1000 genomes]
rs9402303	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs942	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs9483206	1.00[JPT][hapmap]
rs9492774	0.83[CEU][hapmap];0.80[EUR][1000 genomes]
rs954211	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9372985	EPB41L2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:72 , 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	chr6:131286200-131290800	Weak transcription	Liver	Liver
5	chr6:131286200-131293600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr6:131286800-131291600	Active TSS	Aorta	Aorta
7	chr6:131287000-131290800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:131287400-131290800	Enhancers	Fetal Heart	heart
9	chr6:131287600-131291800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
10	chr6:131288200-131291600	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr6:131288200-131306600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:131288400-131290800	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr6:131288400-131291800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:131288600-131290800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:131288600-131290800	Enhancers	HepG2	liver
16	chr6:131288600-131292200	Weak transcription	K562	blood
17	chr6:131288800-131291400	Active TSS	Psoas Muscle	Psoas
18	chr6:131288800-131291600	Active TSS	Fetal Muscle Trunk	muscle
19	chr6:131288800-131291600	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr6:131288800-131291600	Active TSS	Stomach Smooth Muscle	stomach
21	chr6:131289000-131291400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr6:131289000-131292000	Flanking Active TSS	Osteobl	bone
23	chr6:131289000-131294800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr6:131289200-131290600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:131289200-131290800	Enhancers	Fetal Intestine Large	intestine
26	chr6:131289200-131291000	Weak transcription	Brain Substantia Nigra	brain
27	chr6:131289200-131291200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:131289200-131291200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr6:131289200-131291400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr6:131289200-131292200	Weak transcription	Fetal Thymus	thymus
31	chr6:131289200-131294800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr6:131289200-131294800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr6:131289400-131290800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:131289400-131291000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr6:131289400-131291400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr6:131289400-131291600	Active TSS	Brain Hippocampus Middle	brain
37	chr6:131289400-131291600	Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr6:131289400-131291800	Active TSS	NHLF	lung
39	chr6:131289400-131296400	Weak transcription	HUVEC	blood vessel
40	chr6:131289600-131291600	Active TSS	Fetal Stomach	stomach
41	chr6:131289600-131291600	Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr6:131289600-131291800	Active TSS	Ovary	ovary
43	chr6:131289600-131298200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:131289600-131300800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr6:131289800-131290600	Weak transcription	Brain Anterior Caudate	brain
46	chr6:131289800-131290800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr6:131289800-131291200	Weak transcription	NH-A	brain
48	chr6:131289800-131291400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr6:131289800-131291400	Active TSS	Fetal Muscle Leg	muscle
50	chr6:131289800-131291400	Active TSS	HSMM	muscle

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