Variant report

Variant	rs17490139
Chromosome Location	chr12:40552591-40552592
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs11564113	1.00[JPT][hapmap]
rs17442095	1.00[JPT][hapmap]
rs17442346	1.00[JPT][hapmap]
rs17442353	1.00[JPT][hapmap]
rs17442490	1.00[JPT][hapmap]
rs17442882	1.00[JPT][hapmap]
rs17443421	1.00[JPT][hapmap]
rs17443552	1.00[JPT][hapmap]
rs17444103	1.00[JPT][hapmap]
rs17458257	1.00[JPT][hapmap]
rs17458745	1.00[JPT][hapmap]
rs17458773	1.00[JPT][hapmap]
rs17458974	1.00[JPT][hapmap]
rs17460894	1.00[JPT][hapmap]
rs17460992	1.00[JPT][hapmap]
rs17465716	1.00[JPT][hapmap]
rs17465849	1.00[JPT][hapmap]
rs17465891	1.00[JPT][hapmap]
rs17466030	1.00[JPT][hapmap]
rs17466220	1.00[JPT][hapmap]
rs17466269	1.00[JPT][hapmap]
rs17466297	1.00[JPT][hapmap]
rs17466339	1.00[JPT][hapmap]
rs17466451	1.00[JPT][hapmap]
rs17483502	1.00[JPT][hapmap]
rs17489459	1.00[JPT][hapmap]
rs17489480	1.00[JPT][hapmap]
rs17489666	1.00[JPT][hapmap]
rs17490013	1.00[JPT][hapmap]
rs17490578	1.00[JPT][hapmap]
rs17490620	1.00[JPT][hapmap]
rs17490762	1.00[JPT][hapmap]
rs17491006	1.00[AFR][1000 genomes]
rs17491110	1.00[JPT][hapmap]
rs17491410	1.00[JPT][hapmap]
rs17491515	1.00[AFR][1000 genomes]
rs17518014	1.00[JPT][hapmap]
rs17518050	1.00[JPT][hapmap]
rs17518183	1.00[JPT][hapmap]
rs17518427	1.00[JPT][hapmap]
rs17518441	1.00[JPT][hapmap]
rs17518476	1.00[JPT][hapmap]
rs17518672	1.00[JPT][hapmap]
rs17518735	1.00[JPT][hapmap]
rs17519797	1.00[JPT][hapmap]
rs28365202	1.00[JPT][hapmap]
rs28370641	1.00[JPT][hapmap]
rs28370650	1.00[JPT][hapmap]
rs28370657	1.00[JPT][hapmap]
rs28370698	1.00[JPT][hapmap]
rs28370706	1.00[JPT][hapmap]
rs28370720	1.00[JPT][hapmap]
rs28370728	1.00[JPT][hapmap]
rs28370730	1.00[JPT][hapmap]
rs28370743	1.00[JPT][hapmap]
rs28370759	1.00[JPT][hapmap]
rs28370766	1.00[JPT][hapmap]
rs28370770	1.00[JPT][hapmap]
rs28370777	1.00[JPT][hapmap]
rs28370778	1.00[JPT][hapmap]
rs28370782	1.00[JPT][hapmap]
rs28370784	1.00[JPT][hapmap]
rs28370786	1.00[JPT][hapmap]
rs28370792	1.00[JPT][hapmap]
rs28370801	1.00[JPT][hapmap]
rs28370811	1.00[JPT][hapmap]
rs28370825	1.00[JPT][hapmap]
rs7294619	1.00[JPT][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	nsv558596	chr12:40413698-40591117	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv899030	chr12:40509341-40580440	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv899031	chr12:40520684-40580440	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1045516	chr12:40543200-40589557	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40547200-40558600	Weak transcription	Liver	Liver
2	chr12:40548800-40553800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr12:40550600-40552800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:40550800-40553000	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr12:40551000-40553200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr12:40551200-40552600	Enhancers	HMEC	breast
7	chr12:40551200-40553200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:40551200-40553200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr12:40551200-40553200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr12:40551200-40553600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:40551600-40553200	Enhancers	Primary B cells from peripheral blood	blood
12	chr12:40551800-40553200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:40551800-40553400	Enhancers	NHEK	skin
14	chr12:40552000-40553000	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr12:40552000-40556200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:40552200-40553000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr12:40552200-40553200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:40552200-40553200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
19	chr12:40552200-40553200	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr12:40552200-40553200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:40552200-40553200	Flanking Active TSS	GM12878-XiMat	blood
22	chr12:40552200-40553400	Enhancers	Primary hematopoietic stem cells	blood
23	chr12:40552400-40553000	Enhancers	Adipose Nuclei	Adipose

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