Variant report

Variant	rs12630904
Chromosome Location	chr3:100300326-100300327
allele	A/C
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:152)

rs_ID	r²[population]
rs10428254	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10511187	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10511188	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10936221	0.83[CHB][hapmap]
rs11706258	0.82[ASN][1000 genomes]
rs11710281	0.83[ASN][1000 genomes]
rs11713258	0.81[ASN][1000 genomes]
rs11715555	0.81[ASN][1000 genomes]
rs11719592	0.89[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs11923487	0.96[ASN][1000 genomes]
rs12634314	0.81[ASN][1000 genomes]
rs12634317	0.89[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs12634935	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12635025	0.81[ASN][1000 genomes]
rs12635026	0.81[ASN][1000 genomes]
rs12635503	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12636452	0.89[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs12636790	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12637319	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12639465	0.83[CHB][hapmap]
rs1305373	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1305375	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs13320223	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13321761	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1842732	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28722928	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28844646	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4077302	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4129205	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4928048	0.89[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs4928049	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4928063	0.82[ASN][1000 genomes]
rs4928064	0.81[ASN][1000 genomes]
rs4928065	0.81[ASN][1000 genomes]
rs4928110	0.89[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs4928111	0.89[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs4928112	0.89[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs55764247	0.82[ASN][1000 genomes]
rs55789829	0.82[ASN][1000 genomes]
rs56736439	0.82[ASN][1000 genomes]
rs57075146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57404153	0.96[ASN][1000 genomes]
rs57671998	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58618663	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58689996	0.82[ASN][1000 genomes]
rs58740980	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58789183	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs59281247	0.80[ASN][1000 genomes]
rs60151360	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs60255102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60375749	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60511852	0.82[ASN][1000 genomes]
rs61403861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62274560	0.82[ASN][1000 genomes]
rs62274561	0.82[ASN][1000 genomes]
rs62274575	0.81[ASN][1000 genomes]
rs62278361	0.81[ASN][1000 genomes]
rs6441300	0.83[CHB][hapmap]
rs6441308	0.83[CHB][hapmap]
rs6441316	0.89[CHB][hapmap];0.95[JPT][hapmap]
rs6441328	0.89[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs6441329	0.89[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs653530	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs661266	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs66512877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66627492	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66644999	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66747627	0.82[ASN][1000 genomes]
rs66828943	0.82[ASN][1000 genomes]
rs67014477	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67348505	0.82[ASN][1000 genomes]
rs6763638	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6767089	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6768258	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6770693	0.96[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6771421	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6777810	0.83[CHB][hapmap]
rs6780654	0.83[CHB][hapmap]
rs6783630	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6785969	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6792014	0.83[CHB][hapmap]
rs6796541	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6799879	0.89[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs6799882	0.89[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs6799992	0.89[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs68019545	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6802787	0.89[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs6803109	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6807804	0.89[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs6808426	0.89[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs72929220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73141201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7426414	0.89[CHB][hapmap]
rs7426462	0.96[ASN][1000 genomes]
rs7427360	0.96[ASN][1000 genomes]
rs7429277	0.89[CHB][hapmap]
rs7429915	0.94[CHB][hapmap];0.81[JPT][hapmap];0.93[ASN][1000 genomes]
rs7430001	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7431846	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs7432710	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7433589	0.89[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs7433875	0.96[ASN][1000 genomes]
rs7611100	0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs7617909	0.96[ASN][1000 genomes]
rs7618030	0.80[ASN][1000 genomes]
rs7618159	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7622658	0.89[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs7625717	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7631877	0.89[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs7645690	0.89[CHB][hapmap];0.81[ASN][1000 genomes]
rs7645700	0.89[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs7647499	1.00[CEU][hapmap];0.89[CHB][hapmap];0.86[JPT][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7650265	0.82[ASN][1000 genomes]
rs7653126	0.82[ASN][1000 genomes]
rs7653196	0.83[CHB][hapmap]
rs9290097	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9290098	0.96[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9290099	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9290100	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9790050	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9790137	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9790219	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9809934	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9814643	0.82[ASN][1000 genomes]
rs9818800	0.81[ASN][1000 genomes]
rs9819246	0.94[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs9820745	0.82[ASN][1000 genomes]
rs9823159	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9825818	0.96[ASN][1000 genomes]
rs9829641	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9829972	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9831654	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9831783	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9831984	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9834474	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9834776	0.81[ASN][1000 genomes]
rs9838918	0.99[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9842488	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9843498	0.89[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs9843647	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9843654	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9845649	0.81[ASN][1000 genomes]
rs9855549	0.89[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs9856061	0.96[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9857812	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9860005	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9865411	0.89[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs9865776	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9870803	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9874401	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9880036	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9881835	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751965	chr3:100299310-100462527	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	esv2751966	chr3:100299310-100468500	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv2756284	chr3:100299329-100427937	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv2752830	chr3:100299329-100442478	Enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv432464	chr3:100299329-100442478	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	esv2751967	chr3:100299329-100455139	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	esv2751968	chr3:100299329-100476713	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv432466	chr3:100299329-100476713	Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100265800-100300600	Weak transcription	HepG2	liver
2	chr3:100276800-100309200	Weak transcription	NH-A	brain
3	chr3:100277600-100304200	Weak transcription	Ovary	ovary
4	chr3:100278200-100305800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:100283400-100300400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr3:100289600-100301000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:100297200-100300600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:100297400-100300400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr3:100297600-100303400	Weak transcription	Fetal Stomach	stomach
10	chr3:100297800-100300400	Weak transcription	Liver	Liver
11	chr3:100298600-100309000	Weak transcription	Pancreas	Pancrea
12	chr3:100298800-100300400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr3:100298800-100301800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:100298800-100301800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr3:100300000-100300600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr3:100300000-100301800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr3:100300200-100300800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:100300200-100301600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr3:100300200-100301600	Enhancers	Osteobl	bone

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