Variant report

Variant	rs2095470
Chromosome Location	chr13:80310295-80310296
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1335293	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1414116	0.93[EUR][1000 genomes]
rs1577404	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2027152	0.88[EUR][1000 genomes]
rs2039552	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2039553	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2329119	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2329120	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4591027	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7139876	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8001312	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9530951	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9545179	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9565521	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9574460	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][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	nsv900588	chr13:80216846-80421340	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv900589	chr13:80250511-80310295	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv1039333	chr13:80289936-80333167	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2095470	POU4F1	cis	parietal	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80309200-80310600	Enhancers	HSMMtube	muscle
2	chr13:80309400-80310400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr13:80309400-80310400	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr13:80309400-80310600	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr13:80309600-80311400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr13:80309600-80311600	Enhancers	HMEC	breast
7	chr13:80309800-80311600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr13:80309800-80324400	Weak transcription	Right Atrium	heart
9	chr13:80310000-80311400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr13:80310000-80311600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr13:80310000-80315000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr13:80310000-80315000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr13:80310000-80315000	Weak transcription	HSMM	muscle
14	chr13:80310200-80311400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr13:80310200-80311400	Enhancers	Esophagus	oesophagus
16	chr13:80310200-80311400	Enhancers	Placenta Amnion	Placenta Amnion
17	chr13:80310200-80311400	Enhancers	NHEK	skin
18	chr13:80310200-80315200	Weak transcription	Left Ventricle	heart

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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