Variant report

Variant	rs1608188
Chromosome Location	chr8:104283677-104283678
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2642367	0.94[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2948450	0.94[CEU][hapmap];0.84[EUR][1000 genomes]
rs2948451	0.87[CEU][hapmap]
rs55713894	0.94[AFR][1000 genomes]
rs703810	0.87[CEU][hapmap]
rs72673342	0.94[AFR][1000 genomes]
rs72673345	0.94[AFR][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	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv1848810	chr8:104128496-104369288	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	esv1844303	chr8:104128696-104369090	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1015965	chr8:104192086-104361108	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1017326	chr8:104236193-104313235	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	35 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	chr8:104282400-104284000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:104282800-104284200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr8:104283000-104283800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:104283000-104284200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:104283000-104284400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
6	chr8:104283000-104284600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:104283200-104284200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:104283400-104283800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
9	chr8:104283400-104284000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr8:104283400-104284000	ZNF genes & repeats	Aorta	Aorta
11	chr8:104283400-104284200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:104283400-104284800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:104283400-104284800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:104283600-104284000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr8:104283600-104284200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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