Variant report

Variant	rs7076966
Chromosome Location	chr10:94325511-94325512
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1044153	0.82[ASN][1000 genomes]
rs10509645	0.95[CHB][hapmap];0.97[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10786048	0.87[ASN][1000 genomes]
rs10882067	0.84[ASN][1000 genomes]
rs10882071	0.87[ASN][1000 genomes]
rs10882072	0.86[ASN][1000 genomes]
rs10882074	0.95[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10882083	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10882085	0.87[ASN][1000 genomes]
rs10882092	0.84[ASN][1000 genomes]
rs10882095	0.94[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs10882096	0.86[YRI][hapmap];0.80[ASN][1000 genomes]
rs10882099	0.81[CHB][hapmap]
rs11187022	0.87[ASN][1000 genomes]
rs11187030	0.87[ASN][1000 genomes]
rs11187033	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11187072	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11187078	0.81[CEU][hapmap];0.87[JPT][hapmap];0.94[ASN][1000 genomes]
rs11187090	0.87[ASN][1000 genomes]
rs11187096	1.00[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs11187098	0.82[ASN][1000 genomes]
rs11187099	0.84[ASN][1000 genomes]
rs11187107	0.84[ASN][1000 genomes]
rs11187114	0.95[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs12220493	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12355158	0.85[ASN][1000 genomes]
rs1573051	0.86[ASN][1000 genomes]
rs1972360	0.84[ASN][1000 genomes]
rs2149632	0.86[ASN][1000 genomes]
rs2421943	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.98[TSI][hapmap];0.82[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2421945	0.82[JPT][hapmap]
rs2798253	0.85[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2901597	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3781241	0.86[ASN][1000 genomes]
rs3824735	0.95[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs4304670	0.82[JPT][hapmap]
rs61875362	0.86[ASN][1000 genomes]
rs6583813	0.86[ASN][1000 genomes]
rs6583823	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6583825	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7073833	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7078418	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7099761	0.88[CEU][hapmap];0.81[JPT][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7900991	0.86[EUR][1000 genomes]
rs7905037	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7921210	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7921325	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046258	chr10:93866969-94466106	Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	esv1792868	chr10:94232247-94409749	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv895894	chr10:94249982-94452430	Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv895895	chr10:94304132-94372706	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7076966	ALDH18A1	cis	cerebellum	SCAN
rs7076966	KIF11	cis	cerebellum	SCAN
rs7076966	RPP30	cis	cerebellum	SCAN
rs7076966	IFIT2	cis	parietal	SCAN
rs7076966	OPALIN	cis	cerebellum	SCAN

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:94267800-94328800	Weak transcription	Fetal Heart	heart
2	chr10:94272200-94332000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr10:94272200-94332200	Weak transcription	Gastric	stomach
4	chr10:94277200-94331200	Weak transcription	Stomach Mucosa	stomach
5	chr10:94277800-94332200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr10:94304600-94331400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr10:94313800-94327000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr10:94314200-94325800	Weak transcription	Pancreas	Pancrea
9	chr10:94314200-94326800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr10:94314200-94327200	Weak transcription	Brain Anterior Caudate	brain
11	chr10:94314200-94328800	Weak transcription	NHLF	lung
12	chr10:94314200-94331000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr10:94314200-94331200	Weak transcription	Brain Substantia Nigra	brain
14	chr10:94314200-94331200	Weak transcription	Small Intestine	intestine
15	chr10:94314200-94331400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr10:94314200-94331400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr10:94314200-94331600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr10:94314200-94332000	Weak transcription	Colonic Mucosa	Colon
19	chr10:94314400-94327800	Weak transcription	NHDF-Ad	bronchial
20	chr10:94314400-94331000	Weak transcription	Psoas Muscle	Psoas
21	chr10:94314400-94331200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr10:94314400-94331600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr10:94314400-94332200	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr10:94314400-94332400	Weak transcription	Aorta	Aorta
25	chr10:94314400-94332400	Weak transcription	Lung	lung
26	chr10:94314600-94331200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr10:94315000-94331200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr10:94315200-94331200	Weak transcription	Brain Angular Gyrus	brain
29	chr10:94315600-94327600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr10:94315600-94327600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr10:94316000-94327000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr10:94316600-94331400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr10:94317200-94325600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr10:94317400-94331200	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr10:94317600-94332200	Weak transcription	Fetal Thymus	thymus
36	chr10:94318000-94331200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr10:94318000-94332000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr10:94319000-94331200	Weak transcription	Right Ventricle	heart
39	chr10:94319200-94325600	Weak transcription	NHEK	skin
40	chr10:94319200-94327600	Weak transcription	Osteobl	bone
41	chr10:94319400-94327600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr10:94319400-94327600	Weak transcription	NH-A	brain
43	chr10:94319400-94331600	Weak transcription	HSMMtube	muscle
44	chr10:94319400-94332200	Weak transcription	Fetal Kidney	kidney
45	chr10:94319600-94331200	Weak transcription	Fetal Lung	lung
46	chr10:94319800-94332000	Weak transcription	Brain Germinal Matrix	brain
47	chr10:94320200-94326800	Weak transcription	Left Ventricle	heart
48	chr10:94320200-94327200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr10:94320200-94330200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr10:94320200-94331800	Weak transcription	Brain Hippocampus Middle	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links