Variant report

Variant	rs3808381
Chromosome Location	chr8:95657956-95657957
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs3133633	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3824131	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4247284	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60139063	0.99[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][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	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
4	nsv429928	chr8:95488800-95672033	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv429929	chr8:95564533-95676894	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95655400-95658800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:95655400-95669200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr8:95655600-95658400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:95655600-95659200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr8:95655600-95659400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:95655600-95659600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:95655600-95665600	Weak transcription	Pancreas	Pancrea
8	chr8:95655600-95668000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:95655600-95668000	Weak transcription	Gastric	stomach
10	chr8:95655600-95674000	Strong transcription	H9 Cell Line	embryonic stem cell
11	chr8:95655600-95676600	Weak transcription	Esophagus	oesophagus
12	chr8:95655600-95701200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:95655800-95662000	Weak transcription	Placenta	Placenta
14	chr8:95656000-95658400	Enhancers	Duodenum Mucosa	Duodenum
15	chr8:95656000-95679800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr8:95656200-95663000	Strong transcription	HMEC	breast
17	chr8:95656400-95665200	Weak transcription	Colonic Mucosa	Colon
18	chr8:95656400-95701000	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr8:95656400-95713000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr8:95656600-95658800	Weak transcription	Fetal Intestine Large	intestine
21	chr8:95656600-95659000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:95656600-95668200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:95656600-95699200	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr8:95656600-95701200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr8:95656600-95701600	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr8:95656600-95703200	Weak transcription	Stomach Mucosa	stomach
27	chr8:95656800-95668000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr8:95657000-95659000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr8:95657000-95659600	Weak transcription	Fetal Intestine Small	intestine
30	chr8:95657200-95701200	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr8:95657400-95658000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr8:95657400-95658000	Genic enhancers	Rectal Mucosa Donor 31	rectum
33	chr8:95657400-95668200	Strong transcription	NHEK	skin
34	chr8:95657600-95660000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
35	chr8:95657600-95699400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr8:95657800-95668200	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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