Variant report

Variant	rs11562697
Chromosome Location	chr8:119061271-119061272
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11562766	0.90[YRI][hapmap]
rs7015149	0.82[YRI][hapmap]
rs73327803	1.00[AFR][1000 genomes]
rs7829932	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7839261	0.82[YRI][hapmap]

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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119048600-119063800	Weak transcription	HSMMtube	muscle
2	chr8:119049600-119061600	Weak transcription	Esophagus	oesophagus
3	chr8:119051000-119061600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:119055200-119061600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr8:119055200-119065400	Weak transcription	HepG2	liver
6	chr8:119055400-119061600	Weak transcription	Fetal Muscle Leg	muscle
7	chr8:119055400-119061600	Weak transcription	Right Atrium	heart
8	chr8:119056000-119066200	Weak transcription	Right Ventricle	heart
9	chr8:119056200-119061400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr8:119057000-119062800	Enhancers	Fetal Lung	lung
11	chr8:119057000-119068400	Weak transcription	Hela-S3	cervix
12	chr8:119057400-119061400	Weak transcription	Fetal Stomach	stomach
13	chr8:119057800-119061800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr8:119057800-119065800	Weak transcription	Fetal Intestine Small	intestine
15	chr8:119057800-119065800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr8:119058400-119062200	Enhancers	Ovary	ovary
17	chr8:119058600-119061800	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr8:119058600-119062000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:119058600-119062200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:119058600-119062800	Enhancers	NH-A	brain
21	chr8:119058600-119062800	Enhancers	NHLF	lung
22	chr8:119058800-119061400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr8:119058800-119061600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:119058800-119061600	Weak transcription	Aorta	Aorta
25	chr8:119058800-119061600	Weak transcription	Gastric	stomach
26	chr8:119058800-119061600	Weak transcription	Left Ventricle	heart
27	chr8:119058800-119061600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr8:119058800-119064600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr8:119058800-119065000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:119058800-119065000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr8:119059000-119061400	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr8:119059000-119061800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:119059000-119062000	Enhancers	Osteobl	bone
34	chr8:119059200-119062200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr8:119059400-119062000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:119059400-119062000	Weak transcription	Lung	lung
37	chr8:119059400-119062400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:119059600-119061800	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr8:119059600-119061800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr8:119059600-119062200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr8:119059600-119062800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:119059600-119065000	Weak transcription	Spleen	Spleen
43	chr8:119059800-119062000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr8:119060000-119061800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr8:119060000-119062800	Enhancers	Liver	Liver
46	chr8:119060000-119062800	Enhancers	NHDF-Ad	bronchial
47	chr8:119060200-119061600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr8:119060200-119061600	Enhancers	Brain Germinal Matrix	brain
49	chr8:119060200-119064800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr8:119060400-119061600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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