Variant report

Variant	rs7017612
Chromosome Location	chr8:42599245-42599246
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10087172	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10107450	0.83[ASN][1000 genomes]
rs10108797	0.82[ASN][1000 genomes]
rs10109040	0.94[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs10109429	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10109864	0.92[ASN][1000 genomes]
rs10110332	0.87[ASN][1000 genomes]
rs1072003	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10808962	0.90[ASN][1000 genomes]
rs11986893	0.85[CHD][hapmap];0.84[JPT][hapmap]
rs11995030	0.88[ASN][1000 genomes]
rs13280604	0.92[ASW][hapmap];0.85[CHD][hapmap];0.84[JPT][hapmap]
rs1451240	0.85[CHD][hapmap];0.84[JPT][hapmap]
rs1530847	0.85[CHD][hapmap];0.84[JPT][hapmap]
rs16891561	0.87[CHB][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs1955185	0.85[CHD][hapmap];0.84[JPT][hapmap]
rs1979140	0.84[JPT][hapmap]
rs2117225	0.88[ASN][1000 genomes]
rs2196128	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2217732	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2304297	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs28501554	0.96[ASN][1000 genomes]
rs4236926	0.84[CHB][hapmap];0.86[ASN][1000 genomes]
rs4736835	0.85[CHD][hapmap];0.84[JPT][hapmap]
rs4737068	0.87[ASN][1000 genomes]
rs4950	0.92[ASW][hapmap];0.85[CHD][hapmap];0.84[JPT][hapmap]
rs55828312	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs57645595	0.85[ASN][1000 genomes]
rs6474412	0.84[JPT][hapmap]
rs6474413	0.85[CHD][hapmap];0.84[JPT][hapmap]
rs6474418	0.86[ASN][1000 genomes]
rs6982753	0.97[ASN][1000 genomes]
rs6987704	0.87[EUR][1000 genomes]
rs7000412	0.99[ASN][1000 genomes]
rs7001753	0.93[ASN][1000 genomes]
rs7002223	0.99[ASN][1000 genomes]
rs7004108	0.99[ASN][1000 genomes]
rs7004381	0.85[CHD][hapmap];0.84[JPT][hapmap]
rs7015935	0.89[ASN][1000 genomes]
rs7459838	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7812298	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7824155	0.99[ASN][1000 genomes]
rs7824614	0.99[ASN][1000 genomes]
rs7825907	0.97[ASN][1000 genomes]
rs7828366	0.99[ASN][1000 genomes]
rs7837296	0.83[JPT][hapmap]
rs7839964	0.96[ASN][1000 genomes]
rs7845663	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs892413	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs9298628	0.99[ASN][1000 genomes]
rs9298629	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530880	chr8:41895241-42755506	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1034724	chr8:42386707-42772203	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv1030451	chr8:42543326-42618390	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1034121	chr8:42549810-42618713	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv428516	chr8:42577171-42731235	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42592400-42602000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:42594200-42599800	Enhancers	Fetal Thymus	thymus
3	chr8:42594600-42600000	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr8:42594800-42599800	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr8:42594800-42600000	Enhancers	Primary T cells fromperipheralblood	blood
6	chr8:42595000-42599400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr8:42595000-42599800	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr8:42595600-42599400	Enhancers	Pancreas	Pancrea
9	chr8:42596400-42600800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr8:42596400-42601000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr8:42596600-42600600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr8:42596600-42600600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr8:42596800-42600000	Enhancers	Primary T cells from cord blood	blood
14	chr8:42596800-42600200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr8:42596800-42601000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr8:42598000-42599400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr8:42598400-42601200	Enhancers	H9 Cell Line	embryonic stem cell
18	chr8:42598800-42600200	Enhancers	HepG2	liver
19	chr8:42599000-42599400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr8:42599000-42599400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
21	chr8:42599000-42599600	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr8:42599000-42599600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr8:42599000-42601400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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