Variant report

Variant	rs13171019
Chromosome Location	chr5:42792587-42792588
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10041108	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10041932	0.93[CEU][hapmap]
rs10045847	1.00[CHB][hapmap]
rs10045863	1.00[CHB][hapmap]
rs10067153	1.00[CHB][hapmap]
rs10069861	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10072083	1.00[CHB][hapmap]
rs10440649	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10941582	1.00[ASN][1000 genomes]
rs10941588	1.00[ASN][1000 genomes]
rs1109882	1.00[ASN][1000 genomes]
rs11948120	1.00[ASN][1000 genomes]
rs11948463	0.93[CEU][hapmap]
rs11957404	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12514437	1.00[ASN][1000 genomes]
rs13163126	1.00[ASN][1000 genomes]
rs13168440	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13175765	1.00[ASN][1000 genomes]
rs13182117	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13189374	0.83[EUR][1000 genomes]
rs13354167	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs28919899	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28943882	1.00[CHB][hapmap]
rs34159518	1.00[ASN][1000 genomes]
rs35164552	1.00[ASN][1000 genomes]
rs35893798	1.00[ASN][1000 genomes]
rs4242122	1.00[ASN][1000 genomes]
rs4242123	1.00[ASN][1000 genomes]
rs4242124	1.00[ASN][1000 genomes]
rs4292454	1.00[CHB][hapmap]
rs4413537	0.93[CEU][hapmap]
rs4419597	0.93[CEU][hapmap]
rs4451056	1.00[CEU][hapmap]
rs4594864	0.87[CEU][hapmap]
rs4866792	1.00[CEU][hapmap]
rs4866793	1.00[ASN][1000 genomes]
rs4866943	0.83[EUR][1000 genomes]
rs4866955	1.00[ASN][1000 genomes]
rs4866956	1.00[ASN][1000 genomes]
rs4866957	1.00[ASN][1000 genomes]
rs4994772	1.00[CEU][hapmap]
rs5025611	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6413428	1.00[CHB][hapmap]
rs6414898	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6451632	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs6451633	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs6451634	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6451635	0.83[EUR][1000 genomes]
rs6451641	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6451643	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6863953	1.00[CHB][hapmap]
rs6869224	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6871947	1.00[ASN][1000 genomes]
rs6873340	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6873794	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs6878461	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs6878512	1.00[CEU][hapmap]
rs6894403	0.93[CEU][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7442690	1.00[CEU][hapmap]
rs7444761	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7447731	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs7702524	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7709370	1.00[ASN][1000 genomes]
rs7709790	1.00[CHB][hapmap]
rs7721081	1.00[CEU][hapmap]
rs7722558	0.93[CEU][hapmap]
rs9292854	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9292856	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv1031160	chr5:42610090-42843255	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1019696	chr5:42610090-42844191	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv597886	chr5:42610409-42854408	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1029933	chr5:42611976-42833385	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv537735	chr5:42611976-42833385	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
9	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
10	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
11	nsv523033	chr5:42752037-42919685	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	nsv965602	chr5:42767568-42889585	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
14	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42778000-42800800	Weak transcription	Ovary	ovary
2	chr5:42784400-42793400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr5:42787600-42800000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr5:42788400-42800000	Weak transcription	Primary B cells from cord blood	blood
5	chr5:42788600-42807600	Weak transcription	Primary T cells from cord blood	blood
6	chr5:42789400-42800600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr5:42789400-42800800	Weak transcription	Gastric	stomach
8	chr5:42789600-42792800	Weak transcription	Aorta	Aorta
9	chr5:42789600-42800800	Weak transcription	Pancreas	Pancrea
10	chr5:42789600-42813400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:42790400-42799800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr5:42790800-42802200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr5:42791400-42800600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr5:42791400-42811200	Weak transcription	Fetal Thymus	thymus
15	chr5:42792000-42807600	Weak transcription	NHDF-Ad	bronchial

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