Variant report

Variant	rs2008799
Chromosome Location	chr8:118984429-118984430
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10087446	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10097196	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10102745	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10105797	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10955846	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1125103	0.84[CEU][hapmap];0.80[JPT][hapmap]
rs11780699	0.84[CEU][hapmap]
rs11781153	0.83[CEU][hapmap]
rs11781245	0.84[CEU][hapmap];0.80[JPT][hapmap]
rs13256042	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13260665	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1462985	0.85[JPT][hapmap]
rs1466429	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1542519	0.83[CEU][hapmap]
rs1564132	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2168667	0.85[JPT][hapmap]
rs2199545	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2219724	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2325820	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2325821	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2447535	0.88[CEU][hapmap];0.83[CHB][hapmap];0.81[ASN][1000 genomes]
rs2447536	0.87[CEU][hapmap];0.83[JPT][hapmap]
rs2447537	0.84[CEU][hapmap]
rs2447538	0.85[JPT][hapmap]
rs2447539	0.85[JPT][hapmap]
rs2447540	0.83[CEU][hapmap]
rs2447541	0.83[CEU][hapmap];0.84[JPT][hapmap]
rs2514719	0.88[CEU][hapmap];0.80[JPT][hapmap]
rs2514720	0.84[CEU][hapmap];0.83[CHB][hapmap];0.80[JPT][hapmap]
rs2514727	0.94[ASN][1000 genomes]
rs3101574	0.84[CEU][hapmap]
rs4298514	0.87[CEU][hapmap]
rs4541958	0.87[CEU][hapmap]
rs4876774	0.80[CEU][hapmap]
rs4876775	0.80[CEU][hapmap]
rs4876777	0.92[CEU][hapmap];0.87[CHB][hapmap];0.85[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4876781	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4876782	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4876783	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4876784	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6469718	0.84[CEU][hapmap]
rs7815972	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7818831	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7840309	0.84[JPT][hapmap]
rs958381	0.87[CEU][hapmap]
rs9643120	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
6	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
7	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
8	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

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118969800-118986800	Weak transcription	Lung	lung
2	chr8:118970400-118989800	Weak transcription	HSMMtube	muscle
3	chr8:118970800-118989000	Weak transcription	HUVEC	blood vessel
4	chr8:118971600-118993000	Weak transcription	Psoas Muscle	Psoas
5	chr8:118971800-118989000	Weak transcription	Ovary	ovary
6	chr8:118972000-118989600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr8:118972200-118989600	Weak transcription	HSMM	muscle
8	chr8:118972200-118997000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:118974600-118987800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr8:118975400-118992400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:118976600-118991000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr8:118976800-118988600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr8:118978200-118992000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:118978600-118993000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr8:118979000-118991000	Weak transcription	HepG2	liver
16	chr8:118979200-118988000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr8:118979400-118987000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr8:118981200-118990200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr8:118981200-118992400	Weak transcription	Left Ventricle	heart
20	chr8:118981600-118984800	Enhancers	Dnd41	blood
21	chr8:118981800-118987800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:118981800-118988000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr8:118982000-118986600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:118982000-118986600	Weak transcription	Fetal Stomach	stomach
25	chr8:118982000-118993800	Weak transcription	Gastric	stomach
26	chr8:118982200-118984600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr8:118982200-118986600	Weak transcription	Spleen	Spleen
28	chr8:118982200-118987000	Weak transcription	Fetal Muscle Leg	muscle
29	chr8:118982200-118987400	Weak transcription	A549	lung
30	chr8:118982200-118992200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr8:118982400-118987400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:118982400-118990000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr8:118982400-118992000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr8:118982600-118989800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:118983400-118985800	Weak transcription	Aorta	Aorta
36	chr8:118983400-118986600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:118983400-118986600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr8:118983400-118993000	Weak transcription	Esophagus	oesophagus
39	chr8:118983600-118984600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr8:118983600-118984800	Enhancers	Duodenum Mucosa	Duodenum
41	chr8:118983600-118985600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:118983600-118985800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr8:118983600-118986000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr8:118983600-118986600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr8:118983600-118987000	Weak transcription	Fetal Lung	lung
46	chr8:118983600-118988600	Weak transcription	NH-A	brain
47	chr8:118983600-119000800	Weak transcription	Pancreas	Pancrea
48	chr8:118983800-118984800	Enhancers	NHEK	skin
49	chr8:118983800-118985400	Weak transcription	NHDF-Ad	bronchial
50	chr8:118983800-118987200	Weak transcription	Liver	Liver

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