Variant report

Variant	rs12431452
Chromosome Location	chr14:32288664-32288665
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 215 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:210)

rs_ID	r²[population]
rs10129541	0.82[CHB][hapmap]
rs10132896	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10134906	0.82[ASN][1000 genomes]
rs10135589	0.86[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs10141659	0.82[CHB][hapmap]
rs11156701	0.81[CEU][hapmap];0.85[CHB][hapmap]
rs11156702	0.82[ASN][1000 genomes]
rs11156703	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs11156704	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs11156705	0.81[CEU][hapmap]
rs11156707	0.85[CHB][hapmap];0.80[JPT][hapmap];0.81[ASN][1000 genomes]
rs11156709	0.84[ASN][1000 genomes]
rs11156710	0.90[CHB][hapmap];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11620949	0.84[CEU][hapmap];0.84[CHB][hapmap];0.80[JPT][hapmap]
rs11621036	0.86[CHB][hapmap];0.89[JPT][hapmap]
rs11621147	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs11621253	0.81[CHB][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs11621446	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs11624178	0.82[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs11624772	0.82[JPT][hapmap]
rs11626466	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs11626894	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11628555	0.82[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs11628570	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs11628819	0.81[JPT][hapmap]
rs11847399	0.82[ASN][1000 genomes]
rs12147945	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs12432377	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12432746	0.92[CEU][hapmap];0.81[JPT][hapmap]
rs12433471	0.90[ASN][1000 genomes]
rs12433494	0.90[ASN][1000 genomes]
rs12433808	0.82[CHB][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs12434452	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12434666	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12435286	0.86[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs12435348	0.84[JPT][hapmap]
rs12436193	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12436518	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12436891	0.96[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12437209	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs12437440	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12586434	0.93[ASN][1000 genomes]
rs12588396	0.81[ASN][1000 genomes]
rs12589227	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs12590215	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs12590375	0.90[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs12590381	0.81[ASN][1000 genomes]
rs12590836	0.87[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs12878022	0.86[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs12878072	0.81[ASN][1000 genomes]
rs12878817	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12880119	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12881465	0.82[ASN][1000 genomes]
rs12882812	0.83[ASN][1000 genomes]
rs12886260	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs12886280	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12886367	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs12887004	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12887952	0.80[ASN][1000 genomes]
rs12890184	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs12890318	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs12892973	0.81[ASN][1000 genomes]
rs12894301	0.82[ASN][1000 genomes]
rs12895480	0.81[CHB][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs12895565	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs12896685	0.81[CHB][hapmap]
rs1430425	0.86[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs1430428	0.81[CHB][hapmap];0.80[JPT][hapmap]
rs1430431	0.82[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs1443143	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs1443144	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs1470285	0.80[ASN][1000 genomes]
rs1545275	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs1560426	0.82[CEU][hapmap];0.82[CHB][hapmap];0.80[ASN][1000 genomes]
rs17098061	0.82[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs17098152	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs17379143	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17390827	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs17463975	0.91[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17483942	0.89[CEU][hapmap];0.83[CHB][hapmap];0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1822355	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs1897141	0.86[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs1897142	0.82[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs1954440	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs1954441	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs2082167	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2105275	0.99[ASN][1000 genomes]
rs2115950	0.80[ASN][1000 genomes]
rs2115956	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2120140	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs2120142	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs2151782	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2153560	0.81[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs2165814	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs2211251	0.80[ASN][1000 genomes]
rs2226057	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs2378936	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs2378940	0.86[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs2378944	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs2378945	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28788900	0.99[ASN][1000 genomes]
rs34859886	0.80[ASN][1000 genomes]
rs34876895	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34950447	0.80[ASN][1000 genomes]
rs35132574	0.87[ASN][1000 genomes]
rs35138073	0.81[ASN][1000 genomes]
rs35144494	0.81[ASN][1000 genomes]
rs35317729	0.82[ASN][1000 genomes]
rs35349298	0.82[ASN][1000 genomes]
rs35427690	0.80[ASN][1000 genomes]
rs35588979	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35650602	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35722809	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35746551	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35827419	0.80[ASN][1000 genomes]
rs35875023	0.99[ASN][1000 genomes]
rs36020968	0.93[ASN][1000 genomes]
rs36095275	0.86[ASN][1000 genomes]
rs36161359	0.81[ASN][1000 genomes]
rs4011635	0.81[ASN][1000 genomes]
rs4514587	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4619303	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs4981111	0.87[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs4981112	0.86[CHB][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs4981114	0.80[ASN][1000 genomes]
rs4981119	0.80[CHB][hapmap];0.85[JPT][hapmap]
rs4981120	0.90[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs4981122	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs4981123	0.91[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs4981124	0.96[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4981126	0.91[CHB][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs4981127	0.95[ASN][1000 genomes]
rs4981866	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs4981871	0.90[CHB][hapmap];0.82[JPT][hapmap]
rs4981874	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs4981876	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs4981880	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs4981881	0.80[ASN][1000 genomes]
rs4981891	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs4981894	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs4981897	0.89[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs4981900	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs4981902	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs4981904	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs4981905	0.89[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs4981906	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs4981909	0.93[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs4981910	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4981911	0.86[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs4981912	0.86[CHB][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs4981915	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4981916	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4993622	0.82[ASN][1000 genomes]
rs55701649	0.81[ASN][1000 genomes]
rs55966138	0.81[ASN][1000 genomes]
rs56001625	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56293516	0.83[ASN][1000 genomes]
rs60006676	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61421033	0.99[ASN][1000 genomes]
rs61994433	0.89[ASN][1000 genomes]
rs61994434	0.89[ASN][1000 genomes]
rs61996360	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6571459	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs6571468	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67355575	0.82[ASN][1000 genomes]
rs67753865	0.81[ASN][1000 genomes]
rs68170651	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7141411	0.92[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7141900	0.95[CHB][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs7142429	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7142881	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs7144386	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7145749	0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7145823	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7148166	0.92[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs7149151	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs7151228	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7152244	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs7153475	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs7154830	0.81[ASN][1000 genomes]
rs7155549	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs7156445	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7156670	0.80[ASN][1000 genomes]
rs7156902	0.87[ASN][1000 genomes]
rs7156969	0.80[ASN][1000 genomes]
rs7157366	0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs7158021	0.86[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs7158027	0.80[ASN][1000 genomes]
rs7159758	0.85[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs720954	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs7492643	0.86[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs7493492	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs767333	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs8006164	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs8010580	0.84[CHB][hapmap]
rs8010603	0.81[CEU][hapmap];0.85[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs8011663	0.81[ASN][1000 genomes]
rs8013530	0.86[CHB][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs8014386	0.86[CHB][hapmap];0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs8016912	0.86[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs8018532	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8018901	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8019296	0.82[JPT][hapmap]
rs8020397	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs8021851	0.82[ASN][1000 genomes]
rs8022541	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs891468	0.91[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs919521	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs9322877	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9743875	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564180	chr14:31958566-32368934	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv564181	chr14:31958761-32363980	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv564182	chr14:32110519-32584337	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv1046526	chr14:32110537-32567426	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv901593	chr14:32282564-32350371	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32250600-32322400	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr14:32280000-32292200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr14:32281800-32330200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr14:32282600-32298000	Weak transcription	Fetal Stomach	stomach
5	chr14:32285600-32290600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr14:32287400-32288800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:32287400-32288800	Enhancers	HUVEC	blood vessel
8	chr14:32287400-32288800	Enhancers	NHEK	skin
9	chr14:32287400-32289000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr14:32287600-32288800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr14:32287600-32288800	Enhancers	HMEC	breast
12	chr14:32287600-32289000	Enhancers	Hela-S3	cervix
13	chr14:32288200-32288800	Enhancers	NHDF-Ad	bronchial
14	chr14:32288400-32298200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr14:32288600-32288800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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