Variant report

Variant	rs17475980
Chromosome Location	chr8:118960871-118960872
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17476079	0.91[YRI][hapmap]
rs17504806	1.00[YRI][hapmap];1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	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
3	nsv831440	chr8:118871930-119052269	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1032355	chr8:118896733-119003223	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv465785	chr8:118901928-118970300	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv612046	chr8:118901928-118970300	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118954800-118962200	Weak transcription	Right Atrium	heart
2	chr8:118956600-118968000	Weak transcription	Placenta	Placenta
3	chr8:118957800-118961200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:118958000-118963400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr8:118958400-118961200	Enhancers	Fetal Lung	lung
6	chr8:118958600-118961000	Enhancers	Fetal Heart	heart
7	chr8:118958600-118962000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:118958800-118961000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr8:118959000-118961200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr8:118959000-118961400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr8:118959000-118961400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr8:118959000-118961400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr8:118959000-118966400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:118959000-118967800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:118959000-118967800	Weak transcription	Lung	lung
16	chr8:118959000-118968000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr8:118959200-118961000	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr8:118959200-118961000	Flanking Active TSS	A549	lung
19	chr8:118959200-118961200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:118959200-118961200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr8:118959200-118961600	Enhancers	Fetal Intestine Large	intestine
22	chr8:118959200-118962000	Enhancers	Osteobl	bone
23	chr8:118959200-118962200	Weak transcription	Aorta	Aorta
24	chr8:118959200-118968000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr8:118959400-118961200	Enhancers	Fetal Intestine Small	intestine
26	chr8:118959400-118961200	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr8:118959400-118961400	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr8:118959400-118961400	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr8:118959400-118968400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr8:118959400-118968800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr8:118959600-118961000	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr8:118959600-118961200	Enhancers	HSMM	muscle
33	chr8:118959600-118961400	Enhancers	Hela-S3	cervix
34	chr8:118959600-118964800	Enhancers	NHLF	lung
35	chr8:118959600-118968400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:118959800-118961000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr8:118959800-118961200	Enhancers	HUVEC	blood vessel
38	chr8:118959800-118961400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr8:118959800-118963000	Enhancers	NH-A	brain
40	chr8:118959800-118965600	Weak transcription	Left Ventricle	heart
41	chr8:118959800-118968400	Weak transcription	Fetal Muscle Leg	muscle
42	chr8:118960000-118961400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:118960000-118961600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr8:118960000-118962200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:118960000-118962800	Enhancers	NHDF-Ad	bronchial
46	chr8:118960000-118965400	Weak transcription	Adipose Nuclei	Adipose
47	chr8:118960200-118961000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr8:118960200-118961200	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr8:118960200-118961400	Enhancers	Duodenum Mucosa	Duodenum
50	chr8:118960200-118961400	Enhancers	HMEC	breast

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