Variant report

Variant	rs6469833
Chromosome Location	chr8:120627067-120627068
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11991811	0.82[CEU][hapmap];0.88[MEX][hapmap]
rs12676315	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12678907	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs1374099	0.82[CEU][hapmap];0.88[MEX][hapmap]
rs1374100	0.82[CEU][hapmap]
rs17194431	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs1992721	0.91[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs2289885	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs2289888	0.82[CEU][hapmap];0.88[MEX][hapmap]
rs2289889	0.82[CEU][hapmap];0.88[MEX][hapmap]
rs2326304	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2326305	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2326306	0.97[ASN][1000 genomes]
rs2875906	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3793378	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.89[TSI][hapmap];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4520196	0.82[CEU][hapmap]
rs4871401	0.82[CEU][hapmap];0.88[MEX][hapmap]
rs6986760	0.82[CEU][hapmap];0.88[MEX][hapmap]
rs6987103	0.82[CEU][hapmap]
rs6987232	0.82[CEU][hapmap]
rs7007302	0.82[CEU][hapmap];0.88[MEX][hapmap]
rs7017581	0.82[CEU][hapmap];0.88[MEX][hapmap]
rs7822457	0.82[CEU][hapmap];0.87[MEX][hapmap]
rs9297599	0.82[CEU][hapmap];0.88[MEX][hapmap]
rs9297600	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6469833	ENPP2	cis	multi-tissue	Pritchard
rs6469833	TAF2	cis	cerebellum	SCAN

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120595600-120638000	Weak transcription	Fetal Muscle Leg	muscle
2	chr8:120595800-120633000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:120595800-120637800	Weak transcription	Fetal Stomach	stomach
4	chr8:120597600-120634400	Weak transcription	Fetal Thymus	thymus
5	chr8:120611000-120635400	Weak transcription	Colon Smooth Muscle	Colon
6	chr8:120614800-120628800	Weak transcription	Lung	lung
7	chr8:120615000-120641800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:120616200-120629000	Weak transcription	Osteobl	bone
9	chr8:120618000-120627400	Strong transcription	NHDF-Ad	bronchial
10	chr8:120618200-120629400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr8:120618600-120632800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr8:120618800-120630400	Weak transcription	Brain Anterior Caudate	brain
13	chr8:120618800-120632800	Weak transcription	Brain Hippocampus Middle	brain
14	chr8:120618800-120637200	Weak transcription	Fetal Kidney	kidney
15	chr8:120619200-120648000	Weak transcription	Brain Angular Gyrus	brain
16	chr8:120620200-120627400	Weak transcription	Spleen	Spleen
17	chr8:120620200-120639200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:120621200-120627400	Weak transcription	NHLF	lung
19	chr8:120621200-120634400	Weak transcription	Primary T cells from cord blood	blood
20	chr8:120621800-120627400	Weak transcription	Pancreas	Pancrea
21	chr8:120621800-120643400	Weak transcription	Aorta	Aorta
22	chr8:120622000-120633000	Weak transcription	Right Atrium	heart
23	chr8:120623800-120631200	Weak transcription	Brain Substantia Nigra	brain
24	chr8:120624000-120629000	Weak transcription	Placenta	Placenta
25	chr8:120624000-120633000	Weak transcription	Left Ventricle	heart
26	chr8:120624200-120635400	Weak transcription	Fetal Intestine Small	intestine
27	chr8:120624800-120633000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:120625000-120628400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr8:120625400-120629000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr8:120626000-120627400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:120626400-120627800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:120626400-120628000	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr8:120626400-120630000	Strong transcription	Fetal Lung	lung
34	chr8:120626400-120631600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:120626600-120627400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:120626600-120627600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr8:120626600-120627800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:120626600-120627800	Enhancers	Primary B cells from peripheral blood	blood
39	chr8:120626600-120627800	Strong transcription	Liver	Liver
40	chr8:120626600-120627800	Enhancers	GM12878-XiMat	blood
41	chr8:120626600-120627800	Enhancers	Hela-S3	cervix
42	chr8:120626600-120627800	Enhancers	HMEC	breast
43	chr8:120626600-120628200	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr8:120626600-120628200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:120626600-120628200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr8:120626600-120629800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr8:120626600-120631000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr8:120626600-120631400	Strong transcription	Adipose Nuclei	Adipose
49	chr8:120626800-120627800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr8:120627000-120627800	Genic enhancers	Brain Cingulate Gyrus	brain

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