Variant report

Variant	rs9385567
Chromosome Location	chr6:131171912-131171913
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	chr6:131170901..131173491-chr6:131176985..131179406,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10457561	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10457562	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10457563	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12176542	0.91[ASN][1000 genomes]
rs12197688	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12208586	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3777432	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6905151	0.87[CEU][hapmap]
rs6916206	0.86[CEU][hapmap]
rs6942054	0.94[ASN][1000 genomes]
rs71551706	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9375773	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9375778	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9375789	1.00[ASW][hapmap]
rs9388853	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9388854	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9388860	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9398964	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9402283	0.94[ASN][1000 genomes]
rs9402293	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9402295	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9402306	0.81[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533971	chr6:130490694-131172051	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9385567	WDR37	trans	parietal	SCAN
rs9385567	EPB41L2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131132000-131173800	Weak transcription	HSMMtube	muscle
2	chr6:131136400-131174400	Weak transcription	Left Ventricle	heart
3	chr6:131149000-131172600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr6:131149400-131213200	Weak transcription	Pancreas	Pancrea
5	chr6:131150600-131183400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr6:131151600-131216600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr6:131154000-131173800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:131155000-131174600	Weak transcription	Aorta	Aorta
9	chr6:131158000-131172200	Weak transcription	Brain Anterior Caudate	brain
10	chr6:131158200-131173800	Weak transcription	NH-A	brain
11	chr6:131158200-131179400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr6:131158200-131190600	Weak transcription	Spleen	Spleen
13	chr6:131158200-131214400	Weak transcription	Lung	lung
14	chr6:131158600-131174400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:131159000-131174600	Weak transcription	Placenta	Placenta
16	chr6:131159000-131229000	Weak transcription	Colonic Mucosa	Colon
17	chr6:131159600-131174400	Weak transcription	A549	lung
18	chr6:131160600-131179200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr6:131161000-131186600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr6:131161200-131174400	Weak transcription	Colon Smooth Muscle	Colon
21	chr6:131161200-131174400	Weak transcription	Fetal Intestine Small	intestine
22	chr6:131161400-131172000	Weak transcription	Brain Substantia Nigra	brain
23	chr6:131161400-131172200	Weak transcription	Brain Hippocampus Middle	brain
24	chr6:131161600-131176800	Weak transcription	Dnd41	blood
25	chr6:131161800-131186400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr6:131162800-131173800	Weak transcription	HSMM	muscle
27	chr6:131162800-131174400	Weak transcription	Ovary	ovary
28	chr6:131162800-131174600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr6:131163000-131174600	Weak transcription	Fetal Intestine Large	intestine
30	chr6:131163600-131174600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr6:131163800-131173800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:131164400-131172200	Weak transcription	Brain Angular Gyrus	brain
33	chr6:131165600-131173400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr6:131167400-131172400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:131167800-131173600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr6:131168400-131175000	Weak transcription	Right Atrium	heart
37	chr6:131168400-131190600	Weak transcription	Duodenum Mucosa	Duodenum
38	chr6:131168600-131172400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr6:131168600-131179000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr6:131168800-131173800	Weak transcription	Fetal Lung	lung
41	chr6:131168800-131174400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:131168800-131175000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:131168800-131214600	Weak transcription	Fetal Kidney	kidney
44	chr6:131169000-131173200	Weak transcription	Stomach Smooth Muscle	stomach
45	chr6:131169000-131174600	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr6:131169400-131173600	Weak transcription	NHDF-Ad	bronchial
47	chr6:131169600-131172400	Enhancers	Liver	Liver
48	chr6:131170000-131173400	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr6:131170000-131189000	Strong transcription	Adipose Nuclei	Adipose
50	chr6:131170200-131172000	Weak transcription	NHLF	lung

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