Variant report

Variant	rs13359254
Chromosome Location	chr5:167735500-167735501
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:167718118..167719738-chr5:167734090..167735745,2	MCF-7	breast:
2	chr5:167732969..167736546-chr5:167740901..167744013,5	MCF-7	breast:
3	chr5:167716372..167720995-chr5:167731384..167738008,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113645	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10035471	1.00[AMR][1000 genomes]
rs10037118	1.00[AMR][1000 genomes]
rs10037130	1.00[AMR][1000 genomes]
rs10038320	1.00[AMR][1000 genomes]
rs10038390	1.00[AMR][1000 genomes]
rs10038391	1.00[AMR][1000 genomes]
rs10040943	1.00[AMR][1000 genomes]
rs10042576	1.00[AMR][1000 genomes]
rs10054916	1.00[AMR][1000 genomes]
rs10475875	1.00[AMR][1000 genomes]
rs1108517	1.00[AMR][1000 genomes]
rs12109088	1.00[AMR][1000 genomes]
rs1808372	1.00[AMR][1000 genomes]
rs2010076	1.00[AMR][1000 genomes]
rs55689120	1.00[AMR][1000 genomes]
rs61456455	1.00[AMR][1000 genomes]
rs73801875	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73801876	1.00[AMR][1000 genomes]
rs73802326	1.00[AMR][1000 genomes]
rs73802328	1.00[AMR][1000 genomes]
rs73802340	1.00[AMR][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	nsv534607	chr5:167661667-168454396	Active TSS Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv949154	chr5:167691208-168323234	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv5119	chr5:167724987-167766076	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167727000-167737600	Weak transcription	Brain Anterior Caudate	brain
2	chr5:167727200-167737800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr5:167727600-167742600	Weak transcription	Fetal Brain Female	brain
4	chr5:167728000-167737800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr5:167729400-167736000	Weak transcription	Esophagus	oesophagus
6	chr5:167729400-167738000	Weak transcription	Colonic Mucosa	Colon
7	chr5:167729400-167740800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr5:167729400-167741000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:167729400-167741000	Weak transcription	Fetal Lung	lung
10	chr5:167730400-167740800	Weak transcription	HMEC	breast
11	chr5:167730600-167736000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr5:167730600-167738000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:167730800-167740800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:167731000-167736000	Weak transcription	Gastric	stomach
15	chr5:167731000-167736400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:167731000-167739200	Weak transcription	Hela-S3	cervix
17	chr5:167731000-167741600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:167731600-167738000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:167732800-167737800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr5:167733000-167736000	Enhancers	Liver	Liver
21	chr5:167733000-167737800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr5:167733000-167740800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr5:167733200-167738400	Enhancers	Placenta	Placenta
24	chr5:167733800-167735600	Genic enhancers	A549	lung
25	chr5:167734000-167738600	Enhancers	Pancreas	Pancrea
26	chr5:167734200-167740800	Weak transcription	NHEK	skin
27	chr5:167734200-167746000	Enhancers	Fetal Intestine Large	intestine
28	chr5:167734400-167737600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr5:167734400-167746600	Enhancers	Fetal Intestine Small	intestine
30	chr5:167734800-167735800	Enhancers	GM12878-XiMat	blood
31	chr5:167734800-167735800	Enhancers	HepG2	liver
32	chr5:167734800-167738400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr5:167735000-167735800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr5:167735000-167736200	Enhancers	Duodenum Mucosa	Duodenum
35	chr5:167735000-167736600	Enhancers	Stomach Mucosa	stomach
36	chr5:167735400-167736200	Enhancers	Small Intestine	intestine
37	chr5:167735400-167736400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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