Variant report

Variant	rs11562758
Chromosome Location	chr8:119069070-119069071
allele	C/T
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[JPT][hapmap];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10505326	1.00[JPT][hapmap]
rs11562686	0.85[CHB][hapmap];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11562698	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11562761	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17476728	0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17480096	0.86[CHB][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7017817	0.86[CHB][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[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:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119062000-119072800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr8:119062200-119083600	Weak transcription	Fetal Muscle Leg	muscle
3	chr8:119062800-119085000	Weak transcription	Fetal Stomach	stomach
4	chr8:119064000-119069400	Enhancers	Muscle Satellite Cultured Cells	--
5	chr8:119064000-119070600	Enhancers	HMEC	breast
6	chr8:119065000-119071800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:119065400-119073000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:119065600-119069400	Enhancers	NHLF	lung
9	chr8:119065600-119072800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr8:119065600-119072800	Weak transcription	Ovary	ovary
11	chr8:119065600-119072800	Weak transcription	Spleen	Spleen
12	chr8:119065600-119073200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:119065600-119074600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:119065600-119079600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr8:119066000-119076000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:119066200-119069600	Enhancers	NHDF-Ad	bronchial
17	chr8:119066200-119072200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:119066200-119074600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:119066200-119077600	Weak transcription	Fetal Intestine Small	intestine
20	chr8:119066800-119071200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr8:119066800-119077600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr8:119066800-119077600	Weak transcription	HepG2	liver
23	chr8:119067400-119069200	Genic enhancers	Osteobl	bone
24	chr8:119067400-119069400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:119067400-119069400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr8:119067600-119069200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:119067600-119069600	Enhancers	HUVEC	blood vessel
28	chr8:119068000-119069400	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr8:119068000-119076000	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr8:119068000-119077400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr8:119068000-119085600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr8:119068200-119069200	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr8:119068200-119069400	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr8:119068200-119069400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr8:119068200-119069400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr8:119068200-119069400	Enhancers	HSMM	muscle
37	chr8:119068400-119069200	Enhancers	Left Ventricle	heart
38	chr8:119068400-119069200	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr8:119068400-119069200	Enhancers	Hela-S3	cervix
40	chr8:119068400-119069800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:119068600-119069200	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr8:119068600-119069200	Enhancers	Primary T cells from cord blood	blood
43	chr8:119068600-119069200	Enhancers	Pancreas	Pancrea
44	chr8:119068600-119069200	Enhancers	Small Intestine	intestine
45	chr8:119068600-119069200	Flanking Active TSS	A549	lung
46	chr8:119068600-119069400	Enhancers	Aorta	Aorta
47	chr8:119068600-119069400	Enhancers	Right Atrium	heart
48	chr8:119068800-119069200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr8:119068800-119069200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr8:119068800-119069200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links