Variant report

Variant	rs3808383
Chromosome Location	chr8:95656273-95656274
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:95656165-95656613	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:95650400..95656999-chr8:95729644..95735467,19	MCF-7	breast:
2	chr8:95655009..95657075-chr8:95717339..95719274,2	MCF-7	breast:
3	chr8:95650894..95656484-chr8:95728446..95733482,20	MCF-7	breast:
4	chr8:95649858..95656937-chr8:95675336..95684799,15	MCF-7	breast:
5	chr8:95604766..95607186-chr8:95653718..95656477,2	MCF-7	breast:

Variant related genes	Relation type
ESRP1	TF binding region
ENSG00000261437	TF binding region
ENSG00000156162	Chromatin interaction
ENSG00000254283	Chromatin interaction
ENSG00000104413	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1365201	0.83[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2162237	0.81[ASN][1000 genomes]
rs4247283	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55996054	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56284494	0.95[AMR][1000 genomes]
rs60290318	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62523382	0.80[ASN][1000 genomes]
rs62523383	0.80[ASN][1000 genomes]
rs62523408	0.81[ASN][1000 genomes]
rs62523411	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62523416	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62523417	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62523418	0.98[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62523420	0.93[AMR][1000 genomes]
rs62523423	0.84[AMR][1000 genomes]
rs6990716	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7013825	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73263242	0.80[ASN][1000 genomes]
rs7387124	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.94[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	chr8:95654600-95656800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr8:95654800-95656400	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
3	chr8:95654800-95656400	Transcr. at gene 5' and 3'	NHEK	skin
4	chr8:95655000-95656600	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
5	chr8:95655200-95656600	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
6	chr8:95655400-95658800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr8:95655400-95669200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr8:95655600-95656400	Weak transcription	Stomach Mucosa	stomach
9	chr8:95655600-95656600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:95655600-95656600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:95655600-95657600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr8:95655600-95658400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr8:95655600-95659200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr8:95655600-95659400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr8:95655600-95659600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:95655600-95665600	Weak transcription	Pancreas	Pancrea
17	chr8:95655600-95668000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr8:95655600-95668000	Weak transcription	Gastric	stomach
19	chr8:95655600-95674000	Strong transcription	H9 Cell Line	embryonic stem cell
20	chr8:95655600-95676600	Weak transcription	Esophagus	oesophagus
21	chr8:95655600-95701200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:95655800-95656400	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
23	chr8:95655800-95656400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
24	chr8:95655800-95656600	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
25	chr8:95655800-95657000	Enhancers	Fetal Intestine Small	intestine
26	chr8:95655800-95662000	Weak transcription	Placenta	Placenta
27	chr8:95656000-95656400	Enhancers	Colonic Mucosa	Colon
28	chr8:95656000-95656600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr8:95656000-95656600	Enhancers	Fetal Intestine Large	intestine
30	chr8:95656000-95657000	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr8:95656000-95658400	Enhancers	Duodenum Mucosa	Duodenum
32	chr8:95656000-95679800	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr8:95656200-95656400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr8:95656200-95656800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr8:95656200-95657400	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
36	chr8:95656200-95663000	Strong transcription	HMEC	breast

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