Variant report

Variant	rs2033073
Chromosome Location	chr8:95684748-95684749
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:95649858..95656937-chr8:95675336..95684799,15	MCF-7	breast:
2	chr8:95653327..95655832-chr8:95684222..95687323,4	MCF-7	breast:
3	chr8:95565568..95567557-chr8:95684027..95686129,2	K562	blood:

Variant related genes	Relation type
ENSG00000253704	Chromatin interaction
ENSG00000104413	Chromatin interaction
ENSG00000261437	Chromatin interaction
ENSG00000164944	Chromatin interaction

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

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

rs_ID	r²[population]
rs10112364	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10956924	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12234995	0.81[CEU][hapmap]
rs1365204	0.99[ASN][1000 genomes]
rs1426171	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1820418	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3764239	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6471456	0.87[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7826670	0.82[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs919070	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][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:40 , 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	chr8:95656600-95699200	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr8:95656600-95701200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr8:95656600-95701600	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr8:95656600-95703200	Weak transcription	Stomach Mucosa	stomach
8	chr8:95657200-95701200	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr8:95657600-95699400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:95659000-95689800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr8:95660600-95698000	Weak transcription	Fetal Stomach	stomach
12	chr8:95662600-95694600	Weak transcription	Lung	lung
13	chr8:95663800-95690400	Weak transcription	Right Atrium	heart
14	chr8:95664600-95692600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr8:95665600-95685400	Weak transcription	Colonic Mucosa	Colon
16	chr8:95667400-95688400	Strong transcription	Rectal Mucosa Donor 31	rectum
17	chr8:95668000-95687000	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr8:95668400-95693600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr8:95670800-95688600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:95670800-95690400	Strong transcription	HMEC	breast
21	chr8:95670800-95698800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:95670800-95703000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:95671000-95688600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr8:95675000-95687000	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr8:95675400-95688600	Strong transcription	Fetal Intestine Large	intestine
26	chr8:95675600-95688600	Strong transcription	Duodenum Mucosa	Duodenum
27	chr8:95679600-95690400	Strong transcription	NHEK	skin
28	chr8:95679600-95699000	Strong transcription	H9 Cell Line	embryonic stem cell
29	chr8:95679800-95686800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
30	chr8:95680600-95694200	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr8:95680600-95718400	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr8:95681400-95704400	Weak transcription	Gastric	stomach
33	chr8:95682000-95685200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr8:95682000-95685600	Weak transcription	Pancreas	Pancrea
35	chr8:95682000-95686400	Weak transcription	Esophagus	oesophagus
36	chr8:95682400-95690800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr8:95683400-95687000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr8:95683600-95686600	Strong transcription	Fetal Intestine Small	intestine
39	chr8:95683800-95685200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr8:95684600-95685200	Weak transcription	Placenta	Placenta

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