Variant report

Variant	rs1991053
Chromosome Location	chr16:75788840-75788841
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:75676829..75679257-chr16:75786783..75789607,2	MCF-7	breast:
2	chr16:75680552..75683856-chr16:75785538..75789751,4	MCF-7	breast:
3	chr16:75679634..75682728-chr16:75787300..75790263,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000065427	Chromatin interaction
ENSG00000166848	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12232457	0.83[CHB][hapmap];0.83[JPT][hapmap];0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1424093	0.89[CHB][hapmap];0.88[CHD][hapmap];0.85[JPT][hapmap];0.86[MEX][hapmap];0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1424095	0.92[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1477401	0.90[JPT][hapmap]
rs2161698	0.95[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs2903096	0.85[CHB][hapmap]
rs4887836	0.85[CHB][hapmap]
rs4888451	0.94[CHB][hapmap]
rs6564281	0.81[ASN][1000 genomes]
rs6564282	0.87[ASN][1000 genomes]
rs6564283	0.97[ASN][1000 genomes]
rs6564284	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6564285	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7192453	0.84[CHB][hapmap];0.82[CHD][hapmap]
rs7196735	1.00[CHB][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs7205764	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs8047500	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8051378	0.82[CEU][hapmap];0.89[CHB][hapmap];0.91[CHD][hapmap];0.83[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8053219	0.81[CHB][hapmap];0.80[JPT][hapmap]
rs8060887	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8063826	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532562	chr16:75614947-76371158	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats 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 miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1062010	chr16:75628562-75825725	Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1064880	chr16:75628562-75895699	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv542960	chr16:75628562-75895699	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv1065543	chr16:75631306-75800170	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv906930	chr16:75728261-75872464	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1064607	chr16:75787129-76449101	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75787000-75789200	Enhancers	Duodenum Mucosa	Duodenum
2	chr16:75787000-75789400	Enhancers	Pancreas	Pancrea
3	chr16:75787200-75789000	Enhancers	Fetal Intestine Small	intestine
4	chr16:75787400-75789000	Enhancers	Fetal Intestine Large	intestine
5	chr16:75787800-75792400	Weak transcription	Lung	lung
6	chr16:75788600-75789000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr16:75788600-75789000	Enhancers	Gastric	stomach
8	chr16:75788600-75791800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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