Variant report

Variant	rs28404653
Chromosome Location	chr8:8807636-8807637
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10108122	0.87[AFR][1000 genomes]
rs12335261	1.00[AFR][1000 genomes]
rs28386834	0.87[AFR][1000 genomes]
rs28394201	1.00[AFR][1000 genomes]
rs28397721	1.00[AFR][1000 genomes]
rs28506901	1.00[AFR][1000 genomes]
rs28554768	1.00[AFR][1000 genomes]
rs28571273	1.00[AFR][1000 genomes]
rs28572443	1.00[AFR][1000 genomes]
rs28670938	1.00[AFR][1000 genomes]
rs28687128	1.00[AFR][1000 genomes]
rs28690563	1.00[AFR][1000 genomes]
rs9329174	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv831229	chr8:8751523-8926235	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1017388	chr8:8759494-8826714	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1017238	chr8:8760138-8831662	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1026913	chr8:8773659-8838256	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv610205	chr8:8799111-8891644	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8781200-8815200	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr8:8781600-8816600	Weak transcription	Primary T cells from cord blood	blood
3	chr8:8786200-8820600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr8:8796800-8819600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr8:8800200-8810000	Weak transcription	Fetal Brain Male	brain
6	chr8:8800400-8813200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr8:8805800-8808600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr8:8806000-8808000	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr8:8806200-8815800	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr8:8807000-8808000	Enhancers	Osteobl	bone
11	chr8:8807000-8808600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:8807200-8807800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:8807200-8807800	Enhancers	Fetal Lung	lung
14	chr8:8807200-8808000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:8807200-8808000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:8807200-8808000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:8807200-8808000	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr8:8807400-8807800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:8807400-8807800	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr8:8807600-8807800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:8807600-8807800	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
22	chr8:8807600-8807800	Flanking Active TSS	NHDF-Ad	bronchial

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