Variant report

Variant	rs17462055
Chromosome Location	chr12:40751770-40751771
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10506155	1.00[CHB][hapmap];0.88[JPT][hapmap];0.90[ASN][1000 genomes]
rs1072087	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10784451	1.00[CHB][hapmap]
rs10784532	1.00[CHB][hapmap];0.82[JPT][hapmap];0.92[ASN][1000 genomes]
rs10878258	0.87[CHB][hapmap]
rs10878278	0.89[CEU][hapmap];0.93[CHB][hapmap]
rs10878343	0.90[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10878356	0.89[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10878372	0.89[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10878434	0.89[CEU][hapmap];0.81[CHB][hapmap];0.83[EUR][1000 genomes]
rs11175843	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs11175934	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11175935	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11175958	0.90[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11175966	0.90[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11176118	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11176153	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11176154	0.92[ASN][1000 genomes]
rs11176165	0.92[ASN][1000 genomes]
rs11176386	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11176418	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11176423	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12230935	0.84[ASN][1000 genomes]
rs12368229	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1492318	0.84[YRI][hapmap]
rs17444223	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17444730	0.93[CHB][hapmap];0.84[YRI][hapmap]
rs2162471	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2723264	1.00[CHB][hapmap]
rs61915610	0.92[ASN][1000 genomes]
rs7132187	1.00[CHB][hapmap];0.82[JPT][hapmap];0.92[ASN][1000 genomes]
rs7134379	0.87[CHB][hapmap]
rs7137173	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs715403	0.92[CHB][hapmap];0.82[ASN][1000 genomes]
rs7303525	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311501	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7311850	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs7966550	1.00[CHB][hapmap]
rs7969677	1.00[CHB][hapmap]

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:35 , 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	chr12:40722800-40755800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr12:40725200-40761200	Weak transcription	Psoas Muscle	Psoas
9	chr12:40726200-40766600	Weak transcription	A549	lung
10	chr12:40726200-40767800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:40729800-40756000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr12:40730000-40760000	Weak transcription	Spleen	Spleen
13	chr12:40732000-40757200	Weak transcription	Right Ventricle	heart
14	chr12:40732800-40764000	Weak transcription	Colon Smooth Muscle	Colon
15	chr12:40733200-40757000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr12:40733600-40761400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:40734600-40754200	Weak transcription	Esophagus	oesophagus
18	chr12:40737200-40754000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr12:40744400-40754200	Weak transcription	Aorta	Aorta
20	chr12:40746000-40760600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr12:40746200-40754200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr12:40746200-40757200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr12:40746200-40760200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr12:40746200-40760400	Weak transcription	Ovary	ovary
25	chr12:40747200-40759000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:40747200-40762400	Strong transcription	Primary B cells from peripheral blood	blood
27	chr12:40747800-40765000	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr12:40747800-40765200	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr12:40748000-40754200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr12:40750800-40752400	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr12:40751000-40751800	Strong transcription	Brain Anterior Caudate	brain
32	chr12:40751000-40752400	Strong transcription	Adipose Nuclei	Adipose
33	chr12:40751400-40754000	Weak transcription	Primary B cells from cord blood	blood
34	chr12:40751400-40762600	Strong transcription	Liver	Liver
35	chr12:40751600-40752000	Strong transcription	Left Ventricle	heart

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