Variant report

Variant	rs1013982
Chromosome Location	chr16:72450482-72450483
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs12598598	0.88[ASN][1000 genomes]
rs16970850	0.81[ASN][1000 genomes]
rs16970855	0.83[ASN][1000 genomes]
rs16970861	0.83[ASN][1000 genomes]
rs16970900	0.93[ASN][1000 genomes]
rs16970908	0.90[ASN][1000 genomes]
rs1864231	0.94[ASN][1000 genomes]
rs1991530	0.87[ASN][1000 genomes]
rs2079161	0.83[ASN][1000 genomes]
rs2113192	0.81[ASN][1000 genomes]
rs2158265	0.89[ASN][1000 genomes]
rs2158266	0.85[ASN][1000 genomes]
rs2158268	0.88[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs28677977	0.81[ASN][1000 genomes]
rs4410082	0.85[ASN][1000 genomes]
rs56152199	0.89[ASN][1000 genomes]
rs56205630	0.81[ASN][1000 genomes]
rs62051139	0.92[ASN][1000 genomes]
rs62053977	0.81[ASN][1000 genomes]
rs62053982	0.81[ASN][1000 genomes]
rs7194533	0.83[ASN][1000 genomes]
rs7204631	0.88[ASN][1000 genomes]
rs8046070	0.88[ASN][1000 genomes]
rs8047866	0.92[ASN][1000 genomes]
rs8057278	0.88[ASN][1000 genomes]
rs8060607	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs806734	0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs806735	0.83[ASN][1000 genomes]
rs806739	0.83[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs806742	0.88[ASN][1000 genomes]
rs806744	0.84[ASN][1000 genomes]
rs806746	0.90[ASN][1000 genomes]
rs809378	0.88[ASN][1000 genomes]
rs9302637	0.88[ASN][1000 genomes]
rs9930344	0.81[ASN][1000 genomes]
rs9930813	0.86[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs9936793	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS 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 target site	89 gene(s)	inside rSNPs	diseases
2	nsv1060983	chr16:72074832-72791629	Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Flanking 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	58 gene(s)	inside rSNPs	diseases
3	nsv1060804	chr16:72078486-72791629	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats 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	58 gene(s)	inside rSNPs	diseases
4	nsv534039	chr16:72287171-72851170	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv1063172	chr16:72342110-72537808	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv542947	chr16:72342110-72537808	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1067525	chr16:72342110-72602796	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv542948	chr16:72342110-72602796	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv1057127	chr16:72375524-72509686	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv542949	chr16:72375524-72509686	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv1055807	chr16:72418417-72614308	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv572956	chr16:72426448-72517014	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72435000-72455200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr16:72443600-72461600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr16:72447600-72459400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr16:72448400-72457600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr16:72449600-72452600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr16:72450200-72450600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr16:72450400-72456200	Weak transcription	HepG2	liver

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