Variant report

Variant	rs17476847
Chromosome Location	chr8:119066798-119066799
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11562685	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11562722	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11562726	0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11562757	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11562759	0.95[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11562760	0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11562762	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11562815	0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17476840	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17476854	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17476861	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17505659	0.96[YRI][hapmap];0.90[AFR][1000 genomes]
rs59103602	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	nsv1025002	chr8:118970940-119069418	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	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
7	esv2752195	chr8:119058819-119139819	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119057000-119068400	Weak transcription	Hela-S3	cervix
2	chr8:119062000-119067400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr8:119062000-119072800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr8:119062200-119068400	Weak transcription	Left Ventricle	heart
5	chr8:119062200-119068600	Weak transcription	Right Atrium	heart
6	chr8:119062200-119068600	Weak transcription	Stomach Mucosa	stomach
7	chr8:119062200-119068800	Weak transcription	Esophagus	oesophagus
8	chr8:119062200-119083600	Weak transcription	Fetal Muscle Leg	muscle
9	chr8:119062800-119085000	Weak transcription	Fetal Stomach	stomach
10	chr8:119063800-119066800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:119063800-119066800	Enhancers	NH-A	brain
12	chr8:119063800-119067000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr8:119064000-119069400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr8:119064000-119070600	Enhancers	HMEC	breast
15	chr8:119064200-119066800	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr8:119064400-119067000	Enhancers	HSMM	muscle
17	chr8:119064400-119067400	Enhancers	Osteobl	bone
18	chr8:119064800-119066800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr8:119064800-119067000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr8:119064800-119067400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:119065000-119066800	Enhancers	A549	lung
22	chr8:119065000-119071800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:119065400-119066800	Enhancers	HepG2	liver
24	chr8:119065400-119067200	Enhancers	Liver	Liver
25	chr8:119065400-119068200	Weak transcription	HSMMtube	muscle
26	chr8:119065400-119068200	Enhancers	NHEK	skin
27	chr8:119065400-119068600	Weak transcription	Aorta	Aorta
28	chr8:119065400-119068800	Weak transcription	Gastric	stomach
29	chr8:119065400-119073000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:119065600-119068400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:119065600-119068800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr8:119065600-119069400	Enhancers	NHLF	lung
33	chr8:119065600-119072800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr8:119065600-119072800	Weak transcription	Ovary	ovary
35	chr8:119065600-119072800	Weak transcription	Spleen	Spleen
36	chr8:119065600-119073200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:119065600-119074600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr8:119065600-119079600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr8:119066000-119067400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr8:119066000-119068600	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr8:119066000-119076000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr8:119066200-119067600	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr8:119066200-119069600	Enhancers	NHDF-Ad	bronchial
44	chr8:119066200-119072200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:119066200-119074600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:119066200-119077600	Weak transcription	Fetal Intestine Small	intestine
47	chr8:119066400-119066800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr8:119066400-119067800	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr8:119066400-119068400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr8:119066400-119068400	Weak transcription	Rectal Mucosa Donor 31	rectum

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