Variant report

Variant	rs10500708
Chromosome Location	chr11:9615083-9615084
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2872220	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55760947	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60132682	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7113837	1.00[CEU][hapmap];0.92[GIH][hapmap];0.83[LWK][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9630154	0.81[EUR][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	nsv427882	chr11:9431600-9626580	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv553467	chr11:9518551-9648721	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10500708	OR56A4	cis	parietal	SCAN
rs10500708	GVIN1	cis	parietal	SCAN
rs10500708	CYB5R2	cis	parietal	SCAN

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9597000-9622000	Weak transcription	Spleen	Spleen
2	chr11:9597200-9635000	Weak transcription	Pancreas	Pancrea
3	chr11:9597600-9615200	Weak transcription	Brain Hippocampus Middle	brain
4	chr11:9599600-9622800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr11:9599800-9617000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:9599800-9622400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr11:9601400-9622600	Weak transcription	Right Atrium	heart
8	chr11:9601600-9622200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr11:9605000-9618200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:9607000-9622400	Weak transcription	Small Intestine	intestine
11	chr11:9607800-9622600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr11:9610200-9622600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr11:9610600-9615800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr11:9610600-9617400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr11:9610600-9621800	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr11:9610600-9622200	Weak transcription	Primary T cells from cord blood	blood
17	chr11:9610600-9622200	Weak transcription	Lung	lung
18	chr11:9610600-9622600	Weak transcription	Colonic Mucosa	Colon
19	chr11:9610600-9622600	Weak transcription	Esophagus	oesophagus
20	chr11:9610600-9622600	Weak transcription	Thymus	Thymus
21	chr11:9610600-9622800	Weak transcription	Right Ventricle	heart
22	chr11:9610600-9627200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:9610600-9635000	Weak transcription	Aorta	Aorta
24	chr11:9610800-9615800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr11:9610800-9616400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr11:9610800-9616600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:9610800-9622200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr11:9610800-9622200	Weak transcription	Adipose Nuclei	Adipose
29	chr11:9610800-9622600	Weak transcription	Brain Germinal Matrix	brain
30	chr11:9610800-9622600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr11:9611000-9616200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr11:9611000-9622000	Weak transcription	NHEK	skin
33	chr11:9611000-9622200	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr11:9611000-9622600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr11:9611200-9615800	Weak transcription	A549	lung
36	chr11:9611200-9616000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr11:9611200-9621800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr11:9611200-9622600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr11:9611200-9622600	Weak transcription	K562	blood
40	chr11:9611200-9622800	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr11:9611400-9615800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr11:9611400-9615800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:9611400-9616000	Weak transcription	Primary B cells from peripheral blood	blood
44	chr11:9611400-9617200	Weak transcription	HepG2	liver
45	chr11:9611400-9622600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:9611400-9623400	Weak transcription	Fetal Lung	lung
47	chr11:9611600-9621600	Weak transcription	Primary hematopoietic stem cells	blood
48	chr11:9611600-9622200	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr11:9611600-9622400	Weak transcription	Stomach Smooth Muscle	stomach
50	chr11:9611600-9622600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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