Variant report

Variant	rs12546793
Chromosome Location	chr8:11578108-11578109
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11570486..11572575-chr8:11576211..11578134,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12550668	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13249227	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13278753	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13282985	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][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	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1017865	chr8:11377795-11579954	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer 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	29 gene(s)	inside rSNPs	diseases
4	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS 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	21 gene(s)	inside rSNPs	diseases
5	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv1028229	chr8:11575762-11805961	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv539475	chr8:11575762-11805961	Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11574000-11578400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:11575200-11581800	Enhancers	Fetal Heart	heart
3	chr8:11576200-11584800	Enhancers	Liver	Liver
4	chr8:11576800-11578800	Enhancers	HepG2	liver
5	chr8:11577200-11579200	Enhancers	Left Ventricle	heart
6	chr8:11577200-11579400	Enhancers	Right Ventricle	heart
7	chr8:11577400-11578400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
8	chr8:11577400-11578600	Enhancers	Pancreas	Pancrea
9	chr8:11577400-11579200	Flanking Active TSS	Ovary	ovary
10	chr8:11577600-11578200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
11	chr8:11577600-11578200	Enhancers	Gastric	stomach
12	chr8:11577600-11578400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:11577600-11578600	Enhancers	Right Atrium	heart
14	chr8:11577600-11578800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:11577600-11579200	Bivalent Enhancer	Placenta	Placenta
16	chr8:11577600-11579800	Genic enhancers	Fetal Intestine Small	intestine
17	chr8:11577600-11582600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:11577800-11578200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
19	chr8:11577800-11578200	Enhancers	Duodenum Mucosa	Duodenum
20	chr8:11577800-11578400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
21	chr8:11577800-11578600	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
22	chr8:11577800-11579800	Weak transcription	Stomach Mucosa	stomach
23	chr8:11578000-11578200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
24	chr8:11578000-11578200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
25	chr8:11578000-11578400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
26	chr8:11578000-11578400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr8:11578000-11578800	Active TSS	ES-I3 Cell Line	embryonic stem cell

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