Variant report

Variant	rs11176195
Chromosome Location	chr12:40756207-40756208
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

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];0.87[ASN][1000 genomes]
rs10784485	0.85[CEU][hapmap];0.85[AMR][1000 genomes]
rs10784497	0.85[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];0.93[TSI][hapmap];0.85[AMR][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];0.85[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes]
rs10878452	0.87[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[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	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];0.93[TSI][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]
rs11176261	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]
rs11564183	0.85[CEU][hapmap]
rs11835105	1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.88[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]
rs12426498	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]
rs12426513	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12426891	0.85[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes]
rs1388598	0.90[GIH][hapmap]
rs1491943	0.90[GIH][hapmap]
rs17492159	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs17520991	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28365224	0.85[CEU][hapmap];0.90[AMR][1000 genomes]
rs28365238	1.00[CEU][hapmap]
rs3747891	0.81[AMR][1000 genomes]
rs3885053	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4318033	0.85[CEU][hapmap];0.85[AMR][1000 genomes]
rs56325408	0.88[AMR][1000 genomes]
rs7133914	0.90[GIH][hapmap];0.83[AMR][1000 genomes]
rs7308720	0.85[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];0.93[TSI][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:4 , 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

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40640600-40768200	Weak transcription	Pancreas	Pancrea
2	chr12:40674400-40760400	Weak transcription	Lung	lung
3	chr12:40681200-40763000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:40687200-40765000	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr12:40714200-40759200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr12:40716800-40761600	Weak transcription	Fetal Kidney	kidney
7	chr12:40725200-40761200	Weak transcription	Psoas Muscle	Psoas
8	chr12:40726200-40766600	Weak transcription	A549	lung
9	chr12:40726200-40767800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:40730000-40760000	Weak transcription	Spleen	Spleen
11	chr12:40732000-40757200	Weak transcription	Right Ventricle	heart
12	chr12:40732800-40764000	Weak transcription	Colon Smooth Muscle	Colon
13	chr12:40733200-40757000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr12:40733600-40761400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:40746000-40760600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr12:40746200-40757200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:40746200-40760200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:40746200-40760400	Weak transcription	Ovary	ovary
19	chr12:40747200-40759000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:40747200-40762400	Strong transcription	Primary B cells from peripheral blood	blood
21	chr12:40747800-40765000	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr12:40747800-40765200	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr12:40751400-40762600	Strong transcription	Liver	Liver
24	chr12:40751800-40763600	Weak transcription	Brain Anterior Caudate	brain
25	chr12:40752000-40758000	Weak transcription	Left Ventricle	heart
26	chr12:40752400-40758800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr12:40753800-40758200	Strong transcription	Adipose Nuclei	Adipose
28	chr12:40754000-40762000	Strong transcription	Primary B cells from cord blood	blood
29	chr12:40754800-40758800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr12:40754800-40764000	Weak transcription	Esophagus	oesophagus
31	chr12:40754800-40765600	Weak transcription	Aorta	Aorta
32	chr12:40754800-40767600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr12:40755800-40761600	Weak transcription	Stomach Smooth Muscle	stomach
34	chr12:40756000-40763600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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