Variant report

Variant	rs1830656
Chromosome Location	chr13:38004096-38004097
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs12427956	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12427961	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12429268	0.94[EUR][1000 genomes]
rs1322796	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1407606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1853325	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4941869	0.94[EUR][1000 genomes]
rs7327444	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7986151	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7992122	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7992636	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9532055	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9532056	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9532057	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9532062	0.92[EUR][1000 genomes]
rs9532065	0.83[EUR][1000 genomes]
rs9547854	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9547855	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9547856	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9547857	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9547858	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9547859	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9547860	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9547863	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9547870	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9547874	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9547878	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9547879	0.92[EUR][1000 genomes]
rs9547881	0.87[EUR][1000 genomes]
rs9547882	0.94[EUR][1000 genomes]
rs9547885	0.94[EUR][1000 genomes]
rs9547886	0.88[EUR][1000 genomes]
rs9547901	0.92[EUR][1000 genomes]
rs9547903	0.80[EUR][1000 genomes]
rs9646095	0.80[EUR][1000 genomes]
rs9646096	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38003200-38005200	Enhancers	NHDF-Ad	bronchial
2	chr13:38003400-38004200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr13:38003400-38005000	Enhancers	NHLF	lung
4	chr13:38003400-38006200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr13:38003600-38004600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr13:38003800-38004200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr13:38003800-38004800	Enhancers	Osteobl	bone
8	chr13:38003800-38005200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr13:38004000-38005000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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