Variant report

Variant	rs647044
Chromosome Location	chr6:80659696-80659697
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs151584	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs151673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs186915	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs239507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs239509	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs239540	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs239542	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs239543	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs239544	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs240308	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs240323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1032347	chr6:80284809-80694778	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	esv3475140	chr6:80592690-80679283	Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	esv3475142	chr6:80592789-80679132	Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv933704	chr6:80657182-80674202	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80657800-80659800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
2	chr6:80658000-80660600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:80658000-80664200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr6:80658800-80659800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr6:80659200-80659800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:80659400-80660000	Enhancers	Thymus	Thymus
7	chr6:80659400-80660000	Enhancers	Dnd41	blood
8	chr6:80659400-80660200	Enhancers	Fetal Thymus	thymus
9	chr6:80659400-80664600	Weak transcription	Gastric	stomach
10	chr6:80659600-80659800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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