Variant report

Variant	rs7311350
Chromosome Location	chr12:72893768-72893769
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 160 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:150)

rs_ID	r²[population]
rs10128837	0.80[CEU][hapmap];0.94[GIH][hapmap];0.86[MEX][hapmap];0.81[EUR][1000 genomes]
rs10128853	0.83[EUR][1000 genomes]
rs10128854	0.80[CEU][hapmap];0.81[CHB][hapmap];0.94[GIH][hapmap];0.84[JPT][hapmap];0.83[EUR][1000 genomes]
rs10129051	0.83[EUR][1000 genomes]
rs1017987	0.80[CEU][hapmap];0.90[CHB][hapmap];0.83[EUR][1000 genomes]
rs1032330	0.82[EUR][1000 genomes]
rs1032331	0.91[CHB][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes]
rs1032332	0.95[CHB][hapmap];0.94[GIH][hapmap];0.86[JPT][hapmap];0.94[MEX][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs10506656	0.80[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes]
rs10506657	0.80[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes]
rs10506658	0.80[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes]
rs10748199	0.95[CHB][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes]
rs10784971	0.83[EUR][1000 genomes]
rs10784972	0.95[CHB][hapmap];0.94[GIH][hapmap];0.86[JPT][hapmap];0.83[MEX][hapmap];0.88[TSI][hapmap];0.83[EUR][1000 genomes]
rs10784973	0.80[CEU][hapmap];0.94[GIH][hapmap];0.80[TSI][hapmap];0.83[EUR][1000 genomes]
rs10879444	0.83[EUR][1000 genomes]
rs10879445	0.83[EUR][1000 genomes]
rs10879446	0.83[EUR][1000 genomes]
rs10879447	0.83[EUR][1000 genomes]
rs10879451	0.80[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes]
rs10879453	0.83[EUR][1000 genomes]
rs10879458	0.83[EUR][1000 genomes]
rs10879459	0.83[EUR][1000 genomes]
rs10879460	0.81[EUR][1000 genomes]
rs11179226	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11179228	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11179230	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11179240	0.91[ASW][hapmap];0.80[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11179253	0.83[EUR][1000 genomes]
rs11179255	0.95[CHB][hapmap];0.89[JPT][hapmap];0.80[EUR][1000 genomes]
rs11179256	0.83[EUR][1000 genomes]
rs11179258	0.83[EUR][1000 genomes]
rs11179259	0.83[EUR][1000 genomes]
rs11179261	0.83[EUR][1000 genomes]
rs11179264	0.88[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];0.83[EUR][1000 genomes]
rs11179267	0.80[CEU][hapmap];0.86[CHB][hapmap];0.94[GIH][hapmap];0.82[JPT][hapmap];0.94[MEX][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs11179289	0.90[JPT][hapmap]
rs11179293	0.86[JPT][hapmap]
rs11179298	0.86[JPT][hapmap];0.87[MEX][hapmap]
rs11179302	0.86[JPT][hapmap]
rs11179307	0.86[JPT][hapmap]
rs11179308	0.86[JPT][hapmap]
rs11613768	0.86[JPT][hapmap];0.87[MEX][hapmap]
rs11832310	0.83[EUR][1000 genomes]
rs11832989	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11833556	0.82[EUR][1000 genomes]
rs11834716	0.80[CEU][hapmap];0.91[CHB][hapmap];0.94[GIH][hapmap];0.82[JPT][hapmap];0.94[MEX][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs11836997	0.83[EUR][1000 genomes]
rs12099552	0.86[JPT][hapmap];0.87[MEX][hapmap]
rs1214894	0.83[CHB][hapmap]
rs1214897	0.83[CHB][hapmap]
rs1214899	0.83[CHB][hapmap];0.91[CHD][hapmap]
rs12296996	0.95[CHB][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes]
rs12297086	0.82[EUR][1000 genomes]
rs12297782	0.83[EUR][1000 genomes]
rs12298218	0.80[CEU][hapmap];0.91[CHB][hapmap];0.94[GIH][hapmap];0.82[JPT][hapmap];0.94[MEX][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs12298495	0.91[CHB][hapmap];0.94[GIH][hapmap];0.82[JPT][hapmap];0.94[MEX][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs12298959	0.83[EUR][1000 genomes]
rs12302064	0.94[GIH][hapmap];0.86[JPT][hapmap];0.80[TSI][hapmap];0.83[EUR][1000 genomes]
rs12302437	0.94[CHB][hapmap];0.84[JPT][hapmap];0.83[EUR][1000 genomes]
rs12302523	0.83[EUR][1000 genomes]
rs12304007	0.95[CHB][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes]
rs12304367	0.80[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes]
rs12310334	0.83[EUR][1000 genomes]
rs12310446	0.83[EUR][1000 genomes]
rs12310724	0.95[CHB][hapmap];0.85[JPT][hapmap];0.81[EUR][1000 genomes]
rs12322419	0.86[CEU][hapmap];0.95[CHB][hapmap];0.80[JPT][hapmap];0.83[EUR][1000 genomes]
rs12581283	0.80[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.83[EUR][1000 genomes]
rs12816288	0.80[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes]
rs12821081	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs12824763	0.80[CEU][hapmap];0.86[CHB][hapmap];0.94[GIH][hapmap];0.82[JPT][hapmap];0.94[MEX][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs12824967	0.80[CEU][hapmap];0.86[CHB][hapmap];0.94[GIH][hapmap];0.82[JPT][hapmap];0.94[MEX][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs1387978	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1389497	0.83[CHB][hapmap]
rs1444606	0.87[CHB][hapmap];0.93[CHD][hapmap]
rs1444607	0.87[CHB][hapmap];0.93[CHD][hapmap];0.84[ASN][1000 genomes]
rs1463755	0.83[EUR][1000 genomes]
rs1463756	0.83[EUR][1000 genomes]
rs1560742	0.86[JPT][hapmap]
rs17111389	0.83[EUR][1000 genomes]
rs17111470	0.83[EUR][1000 genomes]
rs1817885	0.83[CHB][hapmap];0.91[CHD][hapmap]
rs1826590	0.83[EUR][1000 genomes]
rs1826591	0.81[EUR][1000 genomes]
rs1844642	0.83[EUR][1000 genomes]
rs1873347	0.80[CEU][hapmap];0.86[CHB][hapmap];0.94[GIH][hapmap];0.82[JPT][hapmap];0.94[MEX][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs1873348	0.80[CEU][hapmap];0.95[CHB][hapmap];0.94[GIH][hapmap];0.86[JPT][hapmap];0.88[MEX][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs1873349	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs1899907	1.00[CEU][hapmap];0.91[CHB][hapmap];0.89[CHD][hapmap];0.81[JPT][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1907087	0.80[CEU][hapmap];0.95[CHB][hapmap];0.94[GIH][hapmap];0.86[JPT][hapmap];0.94[MEX][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs1908180	0.80[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes]
rs1962706	0.83[EUR][1000 genomes]
rs1965318	0.82[CHB][hapmap]
rs1968964	0.80[CEU][hapmap];0.95[CHB][hapmap];0.94[GIH][hapmap];0.86[JPT][hapmap];0.94[MEX][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs1968965	0.83[EUR][1000 genomes]
rs2130660	0.82[CHB][hapmap]
rs2272503	0.80[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes]
rs2272504	0.80[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes]
rs2272505	0.83[EUR][1000 genomes]
rs2272506	0.80[CEU][hapmap];0.95[CHB][hapmap];0.94[GIH][hapmap];0.86[JPT][hapmap];0.87[MEX][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs2272507	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2367748	0.80[EUR][1000 genomes]
rs2367750	0.83[EUR][1000 genomes]
rs2367751	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2887071	0.83[CHB][hapmap];0.91[CHD][hapmap]
rs35902343	0.86[JPT][hapmap];0.87[MEX][hapmap]
rs3782362	0.80[CHD][hapmap]
rs3782367	0.83[CHB][hapmap]
rs3782368	0.94[CHB][hapmap];0.85[JPT][hapmap];0.83[EUR][1000 genomes]
rs3817611	0.83[EUR][1000 genomes]
rs3858591	0.80[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes]
rs3936356	0.81[JPT][hapmap]
rs3952786	0.86[JPT][hapmap]
rs41387445	0.91[ASW][hapmap];0.80[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];0.93[MEX][hapmap];0.84[TSI][hapmap];0.86[YRI][hapmap];0.81[EUR][1000 genomes]
rs4144975	0.83[EUR][1000 genomes]
rs57810138	0.82[EUR][1000 genomes]
rs58509346	0.83[EUR][1000 genomes]
rs58687032	0.83[EUR][1000 genomes]
rs626266	0.80[CHD][hapmap]
rs6582090	0.95[CHD][hapmap];0.85[ASN][1000 genomes]
rs6582093	0.83[EUR][1000 genomes]
rs68011183	0.83[EUR][1000 genomes]
rs683101	0.82[CHB][hapmap];0.83[ASN][1000 genomes]
rs7137054	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7139104	0.83[EUR][1000 genomes]
rs723867	0.83[CHB][hapmap]
rs7295506	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7295898	0.95[CHB][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7296349	0.80[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];0.83[EUR][1000 genomes]
rs7296979	0.82[EUR][1000 genomes]
rs7297703	0.86[JPT][hapmap];0.87[MEX][hapmap]
rs7298834	0.85[CHB][hapmap];0.81[JPT][hapmap];0.83[EUR][1000 genomes]
rs7299196	0.86[JPT][hapmap]
rs7303841	0.86[JPT][hapmap];0.87[MEX][hapmap]
rs7307975	0.83[EUR][1000 genomes]
rs7310174	0.80[CEU][hapmap];0.81[CHB][hapmap];0.94[GIH][hapmap];0.93[MEX][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes]
rs7311155	0.83[EUR][1000 genomes]
rs7315299	0.80[CEU][hapmap];0.86[CHB][hapmap];0.94[GIH][hapmap];0.82[JPT][hapmap];0.81[MEX][hapmap];0.83[EUR][1000 genomes]
rs7315407	0.80[CEU][hapmap];0.86[CHB][hapmap];0.94[GIH][hapmap];0.82[JPT][hapmap];0.94[MEX][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs7955512	1.00[CHB][hapmap];0.85[JPT][hapmap];0.83[EUR][1000 genomes]
rs7955675	0.83[EUR][1000 genomes]
rs7955871	1.00[CHB][hapmap];0.84[JPT][hapmap];0.83[EUR][1000 genomes]
rs7964031	0.80[CEU][hapmap];0.95[CHB][hapmap];0.94[GIH][hapmap];0.86[JPT][hapmap];0.93[MEX][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs7967001	0.83[CHB][hapmap]
rs7970163	0.82[EUR][1000 genomes]
rs7976677	0.80[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.80[EUR][1000 genomes]
rs7978913	0.80[CEU][hapmap]
rs7978934	0.80[CEU][hapmap];0.95[CHB][hapmap];0.94[GIH][hapmap];0.86[JPT][hapmap];0.94[MEX][hapmap];0.84[TSI][hapmap]
rs954147	0.83[CEU][hapmap];0.91[CHB][hapmap];0.89[CHD][hapmap];0.90[GIH][hapmap];0.85[ASN][1000 genomes]
rs972421	0.86[JPT][hapmap];0.81[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv899258	chr12:72624088-72957899	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	nsv832453	chr12:72778058-72966827	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	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
10	nsv899259	chr12:72885554-73011367	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:72880600-72901600	Weak transcription	Pancreas	Pancrea
2	chr12:72880600-72905600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr12:72890400-72902000	Weak transcription	Fetal Intestine Small	intestine
4	chr12:72892000-72897600	Weak transcription	Right Atrium	heart
5	chr12:72892400-72901600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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