Variant report

Variant	rs73343055
Chromosome Location	chr5:127034672-127034673
allele	A/G
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	E2F4	chr5:127034559-127034710	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:127029763..127032096-chr5:127033688..127035797,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230561	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs3756723	1.00[AMR][1000 genomes]
rs57616954	0.91[AFR][1000 genomes]
rs58917387	0.91[AFR][1000 genomes]
rs73343046	1.00[AFR][1000 genomes]
rs73343082	1.00[AFR][1000 genomes]
rs73345022	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73345031	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73345034	0.91[AFR][1000 genomes]
rs73345039	0.91[AFR][1000 genomes]
rs73345043	0.91[AFR][1000 genomes]
rs73345059	0.91[AFR][1000 genomes]
rs73345077	0.91[AFR][1000 genomes]
rs73345090	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv830479	chr5:126849254-127053121	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv830480	chr5:126964751-127124522	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127032000-127035600	Enhancers	NH-A	brain
2	chr5:127032800-127040800	Weak transcription	NHDF-Ad	bronchial
3	chr5:127033000-127035200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:127033000-127035200	Weak transcription	Fetal Lung	lung
5	chr5:127033000-127035400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:127033000-127038400	Weak transcription	Psoas Muscle	Psoas
7	chr5:127033000-127040600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:127033000-127040600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:127033000-127041000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr5:127033600-127034800	Enhancers	Fetal Intestine Large	intestine
11	chr5:127033800-127035800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr5:127033800-127040600	Weak transcription	NHLF	lung
13	chr5:127034000-127035200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:127034200-127035200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:127034200-127035800	Enhancers	A549	lung
16	chr5:127034200-127037800	Weak transcription	Left Ventricle	heart
17	chr5:127034200-127038200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr5:127034200-127038400	Weak transcription	Right Atrium	heart
19	chr5:127034200-127040800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr5:127034200-127041000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr5:127034400-127034800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links