Variant report

Variant	rs12099552
Chromosome Location	chr12:73016348-73016349
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 167 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:155)

rs_ID	r²[population]
rs10128837	0.83[CHD][hapmap];0.81[ASN][1000 genomes]
rs10128853	0.80[ASN][1000 genomes]
rs10128854	0.86[CHD][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs10129051	0.81[ASN][1000 genomes]
rs1017987	0.85[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs1032330	0.80[ASN][1000 genomes]
rs1032331	0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs1032332	0.81[CHB][hapmap];0.84[CHD][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap];0.81[ASN][1000 genomes]
rs10506656	0.82[CHB][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs10506657	0.82[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs10506658	0.82[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs10748199	0.85[CHB][hapmap];0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs10784971	0.80[ASN][1000 genomes]
rs10784972	0.81[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs10784973	0.81[CHD][hapmap];0.80[JPT][hapmap];0.80[TSI][hapmap];0.81[ASN][1000 genomes]
rs10879444	0.81[ASN][1000 genomes]
rs10879445	0.81[ASN][1000 genomes]
rs10879446	0.80[ASN][1000 genomes]
rs10879447	0.80[ASN][1000 genomes]
rs10879451	0.86[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs10879453	0.83[ASN][1000 genomes]
rs10879458	0.86[ASN][1000 genomes]
rs10879459	0.87[ASN][1000 genomes]
rs10879460	0.90[ASN][1000 genomes]
rs10879465	0.81[ASN][1000 genomes]
rs10879466	0.81[ASN][1000 genomes]
rs10879472	0.85[ASN][1000 genomes]
rs10879473	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11179228	0.82[MEX][hapmap]
rs11179240	0.82[CHB][hapmap];0.87[MEX][hapmap]
rs11179253	0.81[ASN][1000 genomes]
rs11179255	0.85[CHB][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs11179256	0.81[ASN][1000 genomes]
rs11179258	0.81[ASN][1000 genomes]
rs11179259	0.81[ASN][1000 genomes]
rs11179261	0.84[ASN][1000 genomes]
rs11179264	0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs11179267	0.82[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.84[ASN][1000 genomes]
rs11179280	0.81[CHD][hapmap]
rs11179288	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11179289	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11179290	1.00[CEU][hapmap];0.95[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11179293	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11179294	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11179295	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11179296	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11179298	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11179302	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11179307	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11179308	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11179309	0.97[ASN][1000 genomes]
rs11610020	0.99[ASN][1000 genomes]
rs11613768	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11832310	0.84[ASN][1000 genomes]
rs11833556	0.83[ASN][1000 genomes]
rs11834716	0.86[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.84[ASN][1000 genomes]
rs11836997	0.84[ASN][1000 genomes]
rs12296996	0.82[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs12297086	0.81[ASN][1000 genomes]
rs12297782	0.81[ASN][1000 genomes]
rs12298218	0.86[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.85[ASN][1000 genomes]
rs12298495	0.86[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.81[MEX][hapmap];0.84[ASN][1000 genomes]
rs12298959	0.81[ASN][1000 genomes]
rs12302064	0.90[JPT][hapmap];0.80[TSI][hapmap];0.81[ASN][1000 genomes]
rs12302437	0.94[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs12302523	0.81[ASN][1000 genomes]
rs12304007	0.82[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs12304367	0.82[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs12310334	0.81[ASN][1000 genomes]
rs12310446	0.81[ASN][1000 genomes]
rs12310724	0.81[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs12322419	0.81[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs12581283	0.86[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs12582138	1.00[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12816288	0.90[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs12821081	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs12824763	0.82[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.84[ASN][1000 genomes]
rs12824967	0.82[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.84[ASN][1000 genomes]
rs1463756	0.80[ASN][1000 genomes]
rs1469721	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1560742	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1560743	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17111389	0.80[ASN][1000 genomes]
rs17111470	0.81[ASN][1000 genomes]
rs1826590	0.81[ASN][1000 genomes]
rs1826591	0.80[ASN][1000 genomes]
rs1844642	0.81[ASN][1000 genomes]
rs1873347	0.81[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.84[ASN][1000 genomes]
rs1873348	0.82[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs1873349	0.80[CHB][hapmap];0.95[JPT][hapmap]
rs1907087	0.82[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap];0.81[ASN][1000 genomes]
rs1908180	0.81[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs1962706	0.83[ASN][1000 genomes]
rs1968964	0.82[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap];0.80[ASN][1000 genomes]
rs1968965	0.81[ASN][1000 genomes]
rs1991751	0.81[ASN][1000 genomes]
rs2272503	0.82[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs2272504	0.82[CHB][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs2272505	0.80[ASN][1000 genomes]
rs2272506	0.82[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs2272507	0.80[ASN][1000 genomes]
rs2367746	0.81[ASN][1000 genomes]
rs2367748	0.83[ASN][1000 genomes]
rs2367750	0.81[ASN][1000 genomes]
rs305396	0.87[CHB][hapmap];0.91[CHD][hapmap];0.85[ASN][1000 genomes]
rs34115559	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34893785	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35902343	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3782368	0.82[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs3817611	0.81[ASN][1000 genomes]
rs3843025	0.87[CHB][hapmap]
rs3852549	0.87[CHB][hapmap];0.86[CHD][hapmap]
rs3852550	0.82[CHB][hapmap]
rs3858591	0.81[CHB][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs3910234	0.85[CHB][hapmap]
rs3936356	1.00[ASW][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.87[MKK][hapmap];0.99[ASN][1000 genomes]
rs3952786	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4100196	0.82[CHB][hapmap]
rs41387445	0.91[CHB][hapmap];0.91[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.93[MEX][hapmap];0.90[ASN][1000 genomes]
rs4144975	0.84[ASN][1000 genomes]
rs458942	0.82[ASN][1000 genomes]
rs460406	0.87[CHB][hapmap];0.85[ASN][1000 genomes]
rs57810138	0.81[ASN][1000 genomes]
rs58509346	0.87[ASN][1000 genomes]
rs58687032	0.87[ASN][1000 genomes]
rs6582093	0.88[ASN][1000 genomes]
rs66495167	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68011183	0.81[ASN][1000 genomes]
rs7131984	0.87[CHB][hapmap]
rs7135547	0.86[CHB][hapmap]
rs7139104	0.81[ASN][1000 genomes]
rs7295506	0.82[JPT][hapmap];0.87[MEX][hapmap]
rs7295898	0.81[CHB][hapmap]
rs7296349	0.85[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs7296979	0.80[ASN][1000 genomes]
rs7297703	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7298834	0.85[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs7299196	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7303841	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7309263	0.87[CHB][hapmap];0.86[CHD][hapmap]
rs7309330	0.86[CHB][hapmap]
rs7310174	0.86[CHD][hapmap];0.84[JPT][hapmap];0.80[MEX][hapmap];0.80[TSI][hapmap]
rs7311350	0.86[JPT][hapmap];0.87[MEX][hapmap]
rs7315299	0.81[CHB][hapmap];0.81[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs7315407	0.82[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.84[ASN][1000 genomes]
rs7955512	0.85[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs7955675	0.81[ASN][1000 genomes]
rs7955871	0.85[CHB][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs7964031	0.82[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap];0.81[MEX][hapmap]
rs7970163	0.81[ASN][1000 genomes]
rs7976677	0.95[JPT][hapmap]
rs7978934	0.82[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap]
rs9705508	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs972421	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs996575	0.84[CHB][hapmap]

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	esv2422452	chr12:72485933-73175581	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv899257	chr12:72569746-73145896	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv1044083	chr12:72647640-73275526	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv469465	chr12:72655925-73259114	Weak transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv559363	chr12:72655925-73259114	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv868884	chr12:72664763-73241518	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv817280	chr12:72820558-73508605	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv832454	chr12:72940798-73081180	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1054725	chr12:72990553-73062598	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	esv2758314	chr12:72990707-73251109	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	esv2759908	chr12:72990707-73251109	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv868885	chr12:72998553-73587081	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 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	chr12:73005000-73051600	Weak transcription	Fetal Intestine Large	intestine
2	chr12:73005200-73038000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr12:73005200-73053200	Weak transcription	Ovary	ovary
4	chr12:73011400-73059000	Weak transcription	Pancreas	Pancrea
5	chr12:73014400-73042000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:73014800-73055800	Weak transcription	Adipose Nuclei	Adipose
7	chr12:73015200-73017600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr12:73015200-73019000	Weak transcription	Fetal Intestine Small	intestine
9	chr12:73016200-73016800	Enhancers	Liver	Liver

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