Variant report

Variant	rs4467962
Chromosome Location	chr8:119209213-119209214
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	8:118911988-118922970..8:119208477-119211356	GM12878	blood:
2	8:118988958-118993290..8:119208477-119211356	H1-hESC	embryonic stem cell:	embryo
3	chr8:119209093..119211365-chr8:119212463..119213987,2	K562	blood:
4	8:119208477-119211356..8:119221082-119223921	K562	blood:
5	8:118823602-118831545..8:119208477-119211356	H1-hESC	embryonic stem cell:	embryo
6	8:118847934-118851389..8:119208477-119211356	H1-hESC	embryonic stem cell:	embryo
7	8:118831545-118831953..8:119208477-119211356	H1-hESC	embryonic stem cell:	embryo

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17451873	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17451921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17478099	0.82[ASN][1000 genomes]
rs17480662	0.82[ASN][1000 genomes]
rs17480676	0.82[ASN][1000 genomes]
rs17507034	0.82[ASN][1000 genomes]
rs17749211	1.00[LWK][hapmap]
rs6992495	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7012988	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv831441	chr8:119055370-119262970	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv821660	chr8:119082062-119312183	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv1032681	chr8:119153316-119609948	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv539737	chr8:119153316-119609948	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv1016379	chr8:119164234-119448910	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
9	nsv831442	chr8:119181675-119390122	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
10	esv1822901	chr8:119207029-119214396	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119200800-119218800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr8:119201400-119209400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr8:119203800-119215200	Weak transcription	Liver	Liver
4	chr8:119206200-119212200	Weak transcription	Duodenum Mucosa	Duodenum
5	chr8:119206400-119214400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr8:119206600-119214200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr8:119206800-119210200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr8:119206800-119210200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr8:119207000-119209800	Enhancers	NH-A	brain
10	chr8:119207200-119210000	Enhancers	HSMM	muscle
11	chr8:119207600-119209400	Enhancers	HUVEC	blood vessel
12	chr8:119207600-119210200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:119207600-119210400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:119207800-119210000	Enhancers	HMEC	breast
15	chr8:119207800-119210000	Enhancers	NHDF-Ad	bronchial
16	chr8:119207800-119210400	Enhancers	Adipose Nuclei	Adipose
17	chr8:119207800-119210400	Enhancers	Osteobl	bone
18	chr8:119208000-119209600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:119208000-119209800	Enhancers	NHLF	lung
20	chr8:119208200-119209600	Enhancers	Ovary	ovary
21	chr8:119208200-119213200	Weak transcription	Right Ventricle	heart
22	chr8:119208400-119210200	Weak transcription	Fetal Intestine Small	intestine
23	chr8:119208400-119213000	Weak transcription	Spleen	Spleen
24	chr8:119208400-119214600	Weak transcription	Lung	lung
25	chr8:119208400-119292400	Weak transcription	Pancreas	Pancrea
26	chr8:119208600-119210200	Weak transcription	Esophagus	oesophagus
27	chr8:119208600-119213000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr8:119208600-119214600	Weak transcription	Left Ventricle	heart
29	chr8:119208600-119214600	Weak transcription	Right Atrium	heart
30	chr8:119208600-119217600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:119208800-119210400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:119208800-119210600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr8:119208800-119211200	Weak transcription	GM12878-XiMat	blood
34	chr8:119208800-119213400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr8:119209000-119209400	Weak transcription	Colon Smooth Muscle	Colon
36	chr8:119209000-119209800	Weak transcription	Aorta	Aorta
37	chr8:119209000-119210400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr8:119209000-119214000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr8:119209200-119209600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:119209200-119209600	Enhancers	Muscle Satellite Cultured Cells	--
41	chr8:119209200-119213200	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr8:119209200-119213200	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr8:119209200-119214000	Weak transcription	HSMMtube	muscle
44	chr8:119209200-119219000	Weak transcription	NHEK	skin

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