Variant report

Variant	rs56193547
Chromosome Location	chr8:95699321-95699322
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:95697780..95699530-chr8:95731431..95732984,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000156162	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs13279344	0.80[AMR][1000 genomes]
rs17644352	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17645441	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17717009	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17717431	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4596617	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55663086	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56006709	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7010737	0.88[AMR][1000 genomes]
rs7462810	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95655600-95701200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:95656400-95701000	Strong transcription	H1 Cell Line	embryonic stem cell
3	chr8:95656400-95713000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
4	chr8:95656600-95701200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr8:95656600-95701600	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr8:95656600-95703200	Weak transcription	Stomach Mucosa	stomach
7	chr8:95657200-95701200	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr8:95657600-95699400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:95670800-95703000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:95680600-95718400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr8:95681400-95704400	Weak transcription	Gastric	stomach
12	chr8:95690200-95701000	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr8:95690200-95701200	Strong transcription	Duodenum Mucosa	Duodenum
14	chr8:95690600-95722600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:95691000-95712200	Weak transcription	Colonic Mucosa	Colon
16	chr8:95691400-95706800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr8:95691800-95701800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:95692000-95701600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr8:95693600-95701200	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr8:95694800-95699600	Weak transcription	Lung	lung
21	chr8:95695000-95700200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr8:95695000-95712200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr8:95696800-95700800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr8:95697200-95704400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr8:95697200-95712200	Weak transcription	Esophagus	oesophagus
26	chr8:95698000-95699600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr8:95698000-95704400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr8:95698400-95700400	Weak transcription	Pancreas	Pancrea
29	chr8:95698600-95704400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:95698600-95704400	Weak transcription	Fetal Intestine Small	intestine
31	chr8:95698600-95714200	Weak transcription	Fetal Kidney	kidney
32	chr8:95698800-95700200	Weak transcription	Fetal Intestine Large	intestine
33	chr8:95698800-95700600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:95698800-95700600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr8:95699000-95700400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr8:95699200-95700000	Weak transcription	NHEK	skin
37	chr8:95699200-95700400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
38	chr8:95699200-95701000	Strong transcription	Placenta	Placenta
39	chr8:95699200-95701200	Strong transcription	HMEC	breast

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