Variant report

Variant	rs12596827
Chromosome Location	chr16:72348816-72348817
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10492815	1.00[AFR][1000 genomes]
rs10492820	0.86[ASN][1000 genomes]
rs11075930	1.00[AFR][1000 genomes]
rs11075931	1.00[AFR][1000 genomes]
rs11531326	1.00[AFR][1000 genomes]
rs12051317	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12051376	1.00[AFR][1000 genomes]
rs12051436	1.00[AFR][1000 genomes]
rs12595984	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12596421	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12596520	1.00[AFR][1000 genomes]
rs12597916	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12598100	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12599861	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12600175	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12600298	0.83[AFR][1000 genomes]
rs1437196	1.00[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs16970845	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16970852	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16970879	1.00[AFR][1000 genomes]
rs16970888	1.00[AFR][1000 genomes]
rs16970895	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs16970901	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs16970906	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs16970922	1.00[AFR][1000 genomes]
rs16970998	1.00[AFR][1000 genomes]
rs2059901	0.94[JPT][hapmap];1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs2107153	1.00[AFR][1000 genomes]
rs2161659	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2860232	1.00[AFR][1000 genomes]
rs2878752	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs28823672	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs28876074	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2905695	1.00[AFR][1000 genomes]
rs2905696	1.00[AFR][1000 genomes]
rs2914781	1.00[AFR][1000 genomes]
rs4788468	0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4788627	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4788629	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4788631	0.82[ASN][1000 genomes]
rs4788633	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs4788634	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs4788637	0.83[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs58097957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs60144415	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs873899	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs9938153	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9989361	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv1066473	chr16:72229094-72373598	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72315600-72353600	Weak transcription	Dnd41	blood
2	chr16:72340000-72353000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr16:72343400-72353000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr16:72345400-72359400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr16:72345600-72353000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr16:72347000-72353600	Weak transcription	Pancreas	Pancrea
7	chr16:72347000-72355400	Weak transcription	Gastric	stomach
8	chr16:72347200-72350400	Weak transcription	Fetal Brain Male	brain
9	chr16:72347200-72350600	Weak transcription	Osteobl	bone
10	chr16:72347400-72350400	Weak transcription	NHDF-Ad	bronchial
11	chr16:72347400-72350600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr16:72347600-72350000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr16:72347600-72350400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr16:72347600-72350600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr16:72347600-72351200	Weak transcription	Fetal Lung	lung
16	chr16:72348000-72349200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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