Variant report

Variant	rs11562761
Chromosome Location	chr8:119059214-119059215
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10087091	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10505326	1.00[JPT][hapmap]
rs11562686	0.85[CHB][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11562698	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11562758	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17476728	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17480096	0.85[CHB][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7017817	0.85[CHB][hapmap];1.00[EUR][1000 genomes];0.95[ASN][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:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119047000-119061000	Weak transcription	Primary T cells from cord blood	blood
2	chr8:119047200-119060400	Weak transcription	Stomach Mucosa	stomach
3	chr8:119048600-119063800	Weak transcription	HSMMtube	muscle
4	chr8:119049600-119061600	Weak transcription	Esophagus	oesophagus
5	chr8:119049800-119060000	Weak transcription	HSMM	muscle
6	chr8:119050000-119060400	Weak transcription	A549	lung
7	chr8:119051000-119059400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:119051000-119061600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:119053000-119059800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr8:119053800-119059600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr8:119055200-119061600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr8:119055200-119065400	Weak transcription	HepG2	liver
13	chr8:119055400-119061600	Weak transcription	Fetal Muscle Leg	muscle
14	chr8:119055400-119061600	Weak transcription	Right Atrium	heart
15	chr8:119055600-119060600	Weak transcription	NHEK	skin
16	chr8:119055800-119060400	Weak transcription	HMEC	breast
17	chr8:119055800-119061000	Weak transcription	Colon Smooth Muscle	Colon
18	chr8:119056000-119059600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:119056000-119060000	Weak transcription	NHDF-Ad	bronchial
20	chr8:119056000-119066200	Weak transcription	Right Ventricle	heart
21	chr8:119056200-119059600	Weak transcription	Fetal Heart	heart
22	chr8:119056200-119061000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr8:119056200-119061400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr8:119057000-119062800	Enhancers	Fetal Lung	lung
25	chr8:119057000-119068400	Weak transcription	Hela-S3	cervix
26	chr8:119057400-119061400	Weak transcription	Fetal Stomach	stomach
27	chr8:119057800-119059400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:119057800-119060000	Weak transcription	Liver	Liver
29	chr8:119057800-119061800	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr8:119057800-119065800	Weak transcription	Fetal Intestine Small	intestine
31	chr8:119057800-119065800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr8:119058200-119059800	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr8:119058400-119059400	Enhancers	Lung	lung
34	chr8:119058400-119060200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr8:119058400-119060600	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr8:119058400-119062200	Enhancers	Ovary	ovary
37	chr8:119058600-119059400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:119058600-119059600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr8:119058600-119060600	Enhancers	Psoas Muscle	Psoas
40	chr8:119058600-119061800	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr8:119058600-119062000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr8:119058600-119062200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr8:119058600-119062800	Enhancers	NH-A	brain
44	chr8:119058600-119062800	Enhancers	NHLF	lung
45	chr8:119058800-119059400	Weak transcription	Spleen	Spleen
46	chr8:119058800-119059600	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr8:119058800-119060000	Weak transcription	Pancreas	Pancrea
48	chr8:119058800-119060600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr8:119058800-119061200	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr8:119058800-119061400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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