Variant report

Variant	rs71532328
Chromosome Location	chr8:95693382-95693383
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:9)

rs_ID	r²[population]
rs10089502	0.90[EUR][1000 genomes]
rs10110480	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11782734	0.92[EUR][1000 genomes]
rs13258807	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2554399	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2890826	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4735314	0.89[EUR][1000 genomes]
rs67113852	0.92[EUR][1000 genomes]
rs67760346	0.86[EUR][1000 genomes];0.91[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	chr8:95660600-95698000	Weak transcription	Fetal Stomach	stomach
11	chr8:95662600-95694600	Weak transcription	Lung	lung
12	chr8:95668400-95693600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:95670800-95698800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:95670800-95703000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:95679600-95699000	Strong transcription	H9 Cell Line	embryonic stem cell
16	chr8:95680600-95694200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr8:95680600-95718400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr8:95681400-95704400	Weak transcription	Gastric	stomach
19	chr8:95686800-95697000	Weak transcription	Esophagus	oesophagus
20	chr8:95688600-95693600	Weak transcription	Fetal Intestine Large	intestine
21	chr8:95689400-95695200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
22	chr8:95690200-95698600	Strong transcription	Fetal Intestine Small	intestine
23	chr8:95690200-95701000	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr8:95690200-95701200	Strong transcription	Duodenum Mucosa	Duodenum
25	chr8:95690600-95722600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr8:95690800-95694200	Weak transcription	Right Atrium	heart
27	chr8:95690800-95695200	Strong transcription	HMEC	breast
28	chr8:95691000-95712200	Weak transcription	Colonic Mucosa	Colon
29	chr8:95691400-95694600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr8:95691400-95706800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr8:95691600-95695000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr8:95691800-95693600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr8:95691800-95694600	Weak transcription	Pancreas	Pancrea
34	chr8:95691800-95701800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr8:95692000-95701600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr8:95692400-95693600	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr8:95692800-95694200	Weak transcription	NHEK	skin
38	chr8:95692800-95695000	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr8:95693000-95699200	Weak transcription	Placenta	Placenta
40	chr8:95693200-95696800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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