Variant report

Variant	rs12584046
Chromosome Location	chr13:38054343-38054344
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1107244	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11841382	0.83[EUR][1000 genomes]
rs12584670	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1322804	0.88[ASN][1000 genomes]
rs13378940	0.96[EUR][1000 genomes]
rs1570387	0.98[ASN][1000 genomes]
rs1590305	0.87[ASN][1000 genomes]
rs17055629	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17055871	0.89[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1923716	0.86[ASN][1000 genomes]
rs2224659	0.88[ASN][1000 genomes]
rs2323487	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3764077	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3764078	0.94[ASN][1000 genomes]
rs55903929	0.88[ASN][1000 genomes]
rs56098078	0.87[ASN][1000 genomes]
rs58722541	0.90[ASN][1000 genomes]
rs61946575	1.00[ASN][1000 genomes]
rs61946576	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61946592	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61946593	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61947225	0.92[EUR][1000 genomes]
rs61947266	0.90[ASN][1000 genomes]
rs61947269	0.90[ASN][1000 genomes]
rs6563550	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6563551	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73180681	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7324216	0.89[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7334752	0.86[ASN][1000 genomes]
rs7337526	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7338422	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7984882	0.85[ASN][1000 genomes]
rs7986069	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7989580	0.96[EUR][1000 genomes]
rs7994129	0.85[ASN][1000 genomes]
rs7995332	0.98[ASN][1000 genomes]
rs875082	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9547864	0.96[EUR][1000 genomes]
rs9547877	0.87[ASN][1000 genomes]
rs9576269	0.87[ASN][1000 genomes]
rs9594202	0.96[EUR][1000 genomes]
rs9594204	0.84[ASN][1000 genomes]
rs9594212	0.87[ASN][1000 genomes]
rs9594214	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9603181	0.96[EUR][1000 genomes]
rs9603182	0.96[EUR][1000 genomes]
rs9603183	0.96[EUR][1000 genomes]
rs9603184	0.96[EUR][1000 genomes]
rs9603185	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9603186	0.86[ASN][1000 genomes]
rs9603191	0.86[ASN][1000 genomes]
rs9603194	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9603195	0.88[ASN][1000 genomes]
rs9603210	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9603213	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9603214	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948975	chr13:37281203-38280430	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv899994	chr13:37816086-38087145	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1038850	chr13:37820489-38209571	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv34109	chr13:37843819-38276391	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv832582	chr13:37943056-38124252	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1045716	chr13:37952062-38394595	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv832583	chr13:38030752-38202000	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr13:38051400-38055200	Weak transcription	NH-A	brain
2	chr13:38051400-38058200	Weak transcription	NHLF	lung
3	chr13:38051600-38055000	Weak transcription	Osteobl	bone
4	chr13:38051600-38055600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr13:38051800-38055200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr13:38051800-38055400	Weak transcription	NHDF-Ad	bronchial
7	chr13:38053600-38054400	Enhancers	Fetal Lung	lung
8	chr13:38053600-38063600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr13:38054000-38054400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr13:38054000-38054400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr13:38054000-38054600	Enhancers	Brain Germinal Matrix	brain
12	chr13:38054000-38056600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr13:38054200-38054400	Enhancers	Fetal Stomach	stomach
14	chr13:38054200-38056400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr13:38054200-38056400	Enhancers	Colon Smooth Muscle	Colon

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