Variant report

Variant	rs739517
Chromosome Location	chr7:116955699-116955700
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:115847372-115857098..7:116949919-116957096	GM12878	blood:
2	7:116434729-116454408..7:116949919-116957096	H1-hESC	embryonic stem cell:	embryo
3	7:115861595-115870968..7:116949919-116957096	Hela-S3	cervix:
4	7:116604327-116608063..7:116949919-116957096	H1-hESC	embryonic stem cell:	embryo
5	7:115890993-115892266..7:116949919-116957096	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000135269	Chromatin interaction
ENSG00000198898	Chromatin interaction
ENSG00000228368	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10249651	0.81[CHB][hapmap]
rs10264075	0.82[ASN][1000 genomes]
rs1029396	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10487365	1.00[CEU][hapmap];0.81[CHB][hapmap]
rs10487368	0.81[CHB][hapmap]
rs10953841	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10953843	1.00[CEU][hapmap];0.82[CHB][hapmap];0.83[EUR][1000 genomes]
rs10953844	0.83[EUR][1000 genomes]
rs11769166	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[EUR][1000 genomes]
rs12333572	0.82[CHB][hapmap]
rs12535986	1.00[CEU][hapmap];0.86[CHB][hapmap]
rs12537601	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12673260	0.82[CHB][hapmap]
rs1557630	0.81[CHB][hapmap]
rs2051714	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2051718	0.86[CHB][hapmap]
rs2157946	0.86[CHB][hapmap]
rs2188555	0.82[CHB][hapmap]
rs2237721	1.00[CEU][hapmap];0.81[CHB][hapmap];0.83[EUR][1000 genomes]
rs2237722	0.82[CHB][hapmap]
rs2237723	0.81[CHB][hapmap]
rs2237724	0.80[CHB][hapmap]
rs2239956	0.82[CHB][hapmap]
rs2239957	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2283054	1.00[CEU][hapmap];0.91[CHB][hapmap];0.83[EUR][1000 genomes]
rs2283055	0.80[CHB][hapmap]
rs2283056	0.82[CHB][hapmap]
rs2285544	0.86[CHB][hapmap]
rs2285545	0.86[CHB][hapmap]
rs254536	1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs3757802	0.82[CHB][hapmap]
rs3926643	0.86[CHB][hapmap]
rs39312	1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs39315	1.00[CHB][hapmap];0.90[JPT][hapmap];0.97[ASN][1000 genomes]
rs39317	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs39324	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs4148682	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs4148686	0.82[CHB][hapmap]
rs4148687	0.82[CHB][hapmap]
rs4148688	0.81[CHB][hapmap]
rs4148689	0.81[CHB][hapmap]
rs4148690	0.82[CHB][hapmap]
rs4148691	0.82[CHB][hapmap]
rs4148692	0.82[CHB][hapmap]
rs43025	0.81[CHB][hapmap]
rs43028	0.82[CHB][hapmap]
rs43029	0.82[CHB][hapmap]
rs43032	0.82[CHB][hapmap]
rs43034	0.82[CHB][hapmap]
rs43036	0.82[CHB][hapmap]
rs4727849	0.86[CHB][hapmap]
rs4727850	0.83[CEU][hapmap]
rs4727851	0.81[CHB][hapmap]
rs4730778	1.00[CEU][hapmap];0.86[CHB][hapmap]
rs4730786	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[EUR][1000 genomes]
rs6466611	0.86[CHB][hapmap]
rs6466613	0.82[CHB][hapmap]
rs6947329	0.86[CHB][hapmap]
rs6957317	0.81[CHB][hapmap]
rs6960356	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs6966836	0.80[ASN][1000 genomes]
rs6966838	0.91[CHB][hapmap]
rs6979185	1.00[CEU][hapmap];0.82[CHB][hapmap];0.83[EUR][1000 genomes]
rs713134	0.82[CHB][hapmap]
rs72603594	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72603595	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs756665	0.81[CHB][hapmap]
rs7784156	0.82[CHB][hapmap]
rs7793127	0.82[CHB][hapmap]
rs7805063	0.81[CHB][hapmap]
rs7808424	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[EUR][1000 genomes]
rs7810506	0.86[CHB][hapmap]
rs885993	0.81[CHB][hapmap]
rs9792104	0.81[CHB][hapmap]
rs980574	0.82[CHB][hapmap]
rs989727	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs994996	0.81[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608256	chr7:116928371-117040117	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116931800-116961600	Weak transcription	Placenta	Placenta
2	chr7:116952400-116960600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:116954200-116956400	Genic enhancers	Fetal Lung	lung
4	chr7:116954800-116956400	Strong transcription	Placenta Amnion	Placenta Amnion
5	chr7:116955400-116960200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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