Variant report

Variant	rs12426498
Chromosome Location	chr12:40761315-40761316
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10459264	1.00[CEU][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10784485	0.85[CEU][hapmap];0.85[AMR][1000 genomes]
rs10784497	0.85[CEU][hapmap];0.85[AMR][1000 genomes]
rs10784575	0.84[ASN][1000 genomes]
rs10784576	0.81[ASN][1000 genomes]
rs10878299	0.85[CEU][hapmap];0.85[AMR][1000 genomes]
rs10878302	0.85[CEU][hapmap];0.85[AMR][1000 genomes]
rs10878336	0.83[AMR][1000 genomes]
rs10878386	1.00[CEU][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes]
rs10878452	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10878496	0.84[ASN][1000 genomes]
rs11175793	0.85[CEU][hapmap];0.85[AMR][1000 genomes]
rs11175852	0.83[AMR][1000 genomes]
rs11175902	0.90[AMR][1000 genomes]
rs11175913	0.85[CEU][hapmap];0.85[AMR][1000 genomes]
rs11175941	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes]
rs11175959	0.82[CEU][hapmap];0.83[AMR][1000 genomes]
rs11175963	0.85[CEU][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes]
rs11175964	0.85[CEU][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes]
rs11176022	0.82[CEU][hapmap];0.90[AMR][1000 genomes]
rs11176052	0.87[JPT][hapmap]
rs11176053	0.87[JPT][hapmap]
rs11176195	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11176261	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11176362	0.90[ASN][1000 genomes]
rs11176402	0.84[ASN][1000 genomes]
rs11564183	0.85[CEU][hapmap]
rs11831092	0.93[ASN][1000 genomes]
rs11835105	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11836288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12314692	0.85[AMR][1000 genomes]
rs12316801	0.83[AMR][1000 genomes]
rs12426513	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12426891	0.85[CEU][hapmap];0.85[AMR][1000 genomes]
rs17492159	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs17520991	0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1834744	0.84[ASN][1000 genomes]
rs1966787	0.81[ASN][1000 genomes]
rs1966788	0.84[ASN][1000 genomes]
rs2098963	0.93[ASN][1000 genomes]
rs2098964	0.84[ASN][1000 genomes]
rs2404839	0.84[ASN][1000 genomes]
rs28365224	0.85[CEU][hapmap];0.90[AMR][1000 genomes]
rs28365238	1.00[CEU][hapmap];0.93[JPT][hapmap]
rs3747891	0.81[AMR][1000 genomes]
rs3885053	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3906866	0.84[ASN][1000 genomes]
rs4318033	0.85[CEU][hapmap];0.85[AMR][1000 genomes]
rs56325408	0.88[AMR][1000 genomes]
rs7133914	0.83[AMR][1000 genomes]
rs7308720	0.85[CEU][hapmap]
rs73101517	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73101520	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73108329	0.90[AMR][1000 genomes]
rs73108368	0.90[AMR][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	nsv1044685	chr12:40574460-40771612	Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv832377	chr12:40704881-40855223	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv899032	chr12:40735939-40827479	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv558598	chr12:40742363-40828264	Strong transcription Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv899033	chr12:40758652-41122288	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40640600-40768200	Weak transcription	Pancreas	Pancrea
2	chr12:40681200-40763000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:40687200-40765000	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr12:40716800-40761600	Weak transcription	Fetal Kidney	kidney
5	chr12:40726200-40766600	Weak transcription	A549	lung
6	chr12:40726200-40767800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:40732800-40764000	Weak transcription	Colon Smooth Muscle	Colon
8	chr12:40733600-40761400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:40747200-40762400	Strong transcription	Primary B cells from peripheral blood	blood
10	chr12:40747800-40765000	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr12:40747800-40765200	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr12:40751400-40762600	Strong transcription	Liver	Liver
13	chr12:40751800-40763600	Weak transcription	Brain Anterior Caudate	brain
14	chr12:40754000-40762000	Strong transcription	Primary B cells from cord blood	blood
15	chr12:40754800-40764000	Weak transcription	Esophagus	oesophagus
16	chr12:40754800-40765600	Weak transcription	Aorta	Aorta
17	chr12:40754800-40767600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr12:40755800-40761600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr12:40756000-40763600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:40758200-40765600	Weak transcription	Adipose Nuclei	Adipose
21	chr12:40759000-40765200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:40759200-40764000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr12:40760000-40765600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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