Variant report

Variant	rs12051305
Chromosome Location	chr16:72810936-72810937
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:72808782..72811039-chr16:73094813..73097689,2	MCF-7	breast:
2	chr16:72804678..72807227-chr16:72810442..72813074,3	K562	blood:
3	chr16:72810272..72812904-chr16:72814372..72816078,2	MCF-7	breast:

Extended variants
information (count: 123 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs1035983	0.91[ASN][1000 genomes]
rs1035984	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10400973	0.84[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10492826	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12051226	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12103361	0.94[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs12595874	0.94[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs12598003	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12598048	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12598858	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12599442	0.88[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12600293	1.00[CHB][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]
rs13332877	0.94[CHB][hapmap];0.84[JPT][hapmap];0.89[ASN][1000 genomes]
rs1366846	0.90[ASN][1000 genomes]
rs1429431	0.92[ASN][1000 genomes]
rs1429432	0.90[ASN][1000 genomes]
rs1429433	0.83[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1429434	0.84[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1544964	0.84[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs16971279	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs16971281	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16971287	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16971288	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16971290	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16971292	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs16971306	0.88[CHB][hapmap];0.82[JPT][hapmap];0.92[ASN][1000 genomes]
rs16971312	0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs16971314	0.94[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs16971315	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs16971318	0.94[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs16971321	0.94[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs1859593	0.98[ASN][1000 genomes]
rs1990096	0.94[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs2040939	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2040940	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2043022	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs2115625	0.80[ASN][1000 genomes]
rs2115626	0.80[ASN][1000 genomes]
rs2229286	0.88[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs2229290	0.94[ASN][1000 genomes]
rs2266932	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2266934	0.96[ASN][1000 genomes]
rs2266935	0.83[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2266936	0.94[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs2266938	0.94[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs2266939	0.89[CHB][hapmap];0.83[JPT][hapmap];0.92[ASN][1000 genomes]
rs2266941	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2266942	0.89[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs2266944	0.94[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs2358805	0.91[ASN][1000 genomes]
rs2358811	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2358812	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs292913	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs292914	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs292915	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs292916	0.90[ASN][1000 genomes]
rs292917	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs292918	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs292919	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs292920	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs292921	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs292922	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs292923	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs292924	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs292925	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs292926	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs292927	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs292928	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs292929	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs292930	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs292931	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs292932	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs292933	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs292934	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs292935	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs292937	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs292938	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs292939	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs292940	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs292941	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs292942	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs292943	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs292945	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs292946	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs292947	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3812983	0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4238966	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4278755	0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4788479	0.95[ASN][1000 genomes]
rs4788655	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4788657	0.98[ASN][1000 genomes]
rs4788663	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs59254438	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs60974482	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6499578	0.81[ASN][1000 genomes]
rs6499579	0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6499581	0.83[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs714101	0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs714102	0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7187123	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7194567	0.81[ASN][1000 genomes]
rs7198782	0.93[ASN][1000 genomes]
rs7199644	0.81[ASN][1000 genomes]
rs7199653	0.81[ASN][1000 genomes]
rs7203205	0.82[ASN][1000 genomes]
rs7203232	0.91[ASN][1000 genomes]
rs74028108	1.00[ASN][1000 genomes]
rs8044614	0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs8053419	0.84[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs8059268	0.84[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs9302640	0.88[CHB][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs982799	0.90[ASN][1000 genomes]
rs9923006	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9924937	0.81[ASN][1000 genomes]
rs9927280	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs9933433	0.94[CHB][hapmap];0.88[JPT][hapmap];0.93[ASN][1000 genomes]
rs9934215	0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs9936708	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs999210	0.84[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1063049	chr16:72577004-72887111	Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv542952	chr16:72577004-72887111	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv1868	chr16:72801962-72820054	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72794800-72818000	Weak transcription	Aorta	Aorta
2	chr16:72798400-72817800	Weak transcription	HSMM	muscle
3	chr16:72798800-72815600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:72803000-72811200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr16:72806400-72820600	Weak transcription	Fetal Intestine Small	intestine
6	chr16:72810200-72821800	Weak transcription	Dnd41	blood
7	chr16:72810400-72811000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr16:72810600-72821000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr16:72810800-72821000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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