Variant report

Variant	rs17139857
Chromosome Location	chr7:18802346-18802347
allele	C/T
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:50)

rs_ID	r²[population]
rs10224035	1.00[CEU][hapmap]
rs10224196	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10234134	1.00[CEU][hapmap]
rs10234485	1.00[CEU][hapmap]
rs10237404	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10237427	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10241000	1.00[CEU][hapmap]
rs10241099	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10241929	1.00[CEU][hapmap]
rs10242505	1.00[CEU][hapmap]
rs10243888	1.00[CEU][hapmap]
rs10249580	1.00[CEU][hapmap]
rs10249862	1.00[CEU][hapmap]
rs10253041	1.00[CEU][hapmap]
rs10254059	1.00[CEU][hapmap]
rs10259213	1.00[CEU][hapmap]
rs10261429	1.00[CEU][hapmap]
rs10261637	1.00[CEU][hapmap]
rs10270954	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10278707	1.00[CEU][hapmap]
rs11505303	1.00[CEU][hapmap]
rs17139504	1.00[CEU][hapmap]
rs17139510	1.00[CEU][hapmap]
rs17139544	1.00[CEU][hapmap]
rs17139704	1.00[CEU][hapmap]
rs17139758	1.00[CEU][hapmap]
rs17139854	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17139861	1.00[CEU][hapmap];0.81[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17139867	1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17139913	1.00[CEU][hapmap]
rs17139947	1.00[CEU][hapmap]
rs17139975	1.00[CEU][hapmap]
rs17150253	1.00[CEU][hapmap]
rs212662	1.00[CEU][hapmap]
rs212663	1.00[CEU][hapmap]
rs2520336	1.00[CEU][hapmap]
rs2520352	1.00[CEU][hapmap]
rs2520363	1.00[CEU][hapmap]
rs2588613	1.00[CEU][hapmap]
rs28565563	1.00[EUR][1000 genomes]
rs3901982	1.00[CEU][hapmap]
rs55641428	1.00[EUR][1000 genomes]
rs6946945	1.00[CEU][hapmap]
rs6950235	1.00[CEU][hapmap]
rs6956490	1.00[CEU][hapmap]
rs6960766	1.00[CEU][hapmap]
rs7455862	1.00[CEU][hapmap]
rs7803715	1.00[CEU][hapmap]
rs7809331	1.00[CEU][hapmap]
rs9918521	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755157	chr7:18337660-18805860	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv830917	chr7:18612436-18817712	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv531368	chr7:18677922-18836920	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv498112	chr7:18677922-18991946	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv887813	chr7:18720135-18995552	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv887814	chr7:18751998-18886177	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18765200-18810600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:18787800-18810800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr7:18789000-18807800	Weak transcription	Aorta	Aorta
4	chr7:18789000-18808600	Weak transcription	Left Ventricle	heart
5	chr7:18790600-18835000	Weak transcription	Primary B cells from cord blood	blood
6	chr7:18797800-18807800	Weak transcription	HSMMtube	muscle
7	chr7:18800400-18802400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:18800400-18802400	Enhancers	NH-A	brain
9	chr7:18800800-18802400	Enhancers	NHDF-Ad	bronchial
10	chr7:18801600-18802400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:18801600-18802400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr7:18801600-18802400	Enhancers	HSMM	muscle
13	chr7:18801600-18802400	Enhancers	Osteobl	bone
14	chr7:18801800-18802400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr7:18801800-18802400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr7:18801800-18802600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:18802000-18802400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr7:18802000-18803000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:18802000-18807400	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr7:18802000-18807800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr7:18802000-18809800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:18802200-18807600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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