Variant report

Variant	rs3808382
Chromosome Location	chr8:95656803-95656804
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	chr8:95649858..95656937-chr8:95675336..95684799,15	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104413	Chromatin interaction
ENSG00000156162	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1046163	0.89[GIH][hapmap];0.86[MKK][hapmap]
rs12543234	0.85[GIH][hapmap]
rs12675372	0.85[GIH][hapmap]
rs12678311	0.85[GIH][hapmap]
rs12679585	0.82[CHB][hapmap]
rs1365202	0.85[ASN][1000 genomes]
rs1365203	0.85[GIH][hapmap]
rs1365205	0.87[GIH][hapmap];0.81[TSI][hapmap]
rs1549466	0.87[GIH][hapmap];0.91[MKK][hapmap];0.81[TSI][hapmap]
rs15710	0.89[GIH][hapmap];0.86[MKK][hapmap]
rs15726	0.89[GIH][hapmap];0.86[MKK][hapmap]
rs2288260	0.84[GIH][hapmap];0.81[MKK][hapmap]
rs2303451	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2303452	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2722883	0.89[GIH][hapmap]
rs2722884	0.89[GIH][hapmap]
rs35383278	0.97[ASN][1000 genomes]
rs4008177	0.85[GIH][hapmap]
rs4735315	0.85[ASN][1000 genomes]
rs62523409	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62523412	0.85[ASN][1000 genomes]
rs6471464	0.89[GIH][hapmap];0.86[MKK][hapmap]
rs6471468	0.89[GIH][hapmap];0.83[MKK][hapmap]
rs6471471	0.89[GIH][hapmap];0.86[MKK][hapmap]
rs7004872	0.91[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7010722	0.89[GIH][hapmap];0.86[MKK][hapmap]
rs7017996	0.85[GIH][hapmap]
rs7812489	1.00[ASW][hapmap];0.85[GIH][hapmap];0.87[LWK][hapmap]
rs7816645	1.00[ASW][hapmap];1.00[LWK][hapmap]
rs7827723	0.91[CHB][hapmap];0.80[ASN][1000 genomes]
rs7829467	0.84[GIH][hapmap];0.87[LWK][hapmap];0.86[MKK][hapmap]
rs7842716	1.00[ASW][hapmap];0.85[GIH][hapmap];0.87[LWK][hapmap]
rs9643347	0.84[GIH][hapmap]
rs9694810	0.91[CHB][hapmap];0.85[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3808382	DPY19L4	cis	cerebellum	SCAN

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	chr8:95655600-95657600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:95655600-95658400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:95655600-95659200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr8:95655600-95659400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:95655600-95659600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:95655600-95665600	Weak transcription	Pancreas	Pancrea
9	chr8:95655600-95668000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:95655600-95668000	Weak transcription	Gastric	stomach
11	chr8:95655600-95674000	Strong transcription	H9 Cell Line	embryonic stem cell
12	chr8:95655600-95676600	Weak transcription	Esophagus	oesophagus
13	chr8:95655600-95701200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:95655800-95657000	Enhancers	Fetal Intestine Small	intestine
15	chr8:95655800-95662000	Weak transcription	Placenta	Placenta
16	chr8:95656000-95657000	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr8:95656000-95658400	Enhancers	Duodenum Mucosa	Duodenum
18	chr8:95656000-95679800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr8:95656200-95657400	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
20	chr8:95656200-95663000	Strong transcription	HMEC	breast
21	chr8:95656400-95657200	Genic enhancers	HUES6 Cell Line	embryonic stem cell
22	chr8:95656400-95657400	Genic enhancers	NHEK	skin
23	chr8:95656400-95665200	Weak transcription	Colonic Mucosa	Colon
24	chr8:95656400-95701000	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr8:95656400-95713000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr8:95656600-95657800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr8:95656600-95658800	Weak transcription	Fetal Intestine Large	intestine
28	chr8:95656600-95659000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:95656600-95668200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:95656600-95699200	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr8:95656600-95701200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr8:95656600-95701600	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr8:95656600-95703200	Weak transcription	Stomach Mucosa	stomach
34	chr8:95656800-95657000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr8:95656800-95657600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr8:95656800-95668000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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