Variant report

Variant	rs57462590
Chromosome Location	chr7:124379587-124379588
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10954039	1.00[ASN][1000 genomes]
rs12530505	1.00[ASN][1000 genomes]
rs12536432	1.00[ASN][1000 genomes]
rs12539308	1.00[ASN][1000 genomes]
rs13228582	1.00[ASN][1000 genomes]
rs1404409	1.00[ASN][1000 genomes]
rs1917364	1.00[ASN][1000 genomes]
rs2107931	1.00[ASN][1000 genomes]
rs2402738	1.00[ASN][1000 genomes]
rs36008540	1.00[ASN][1000 genomes]
rs4532546	1.00[ASN][1000 genomes]
rs717240	1.00[ASN][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	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	nsv1027091	chr7:124311742-124388908	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	esv3446198	chr7:124358002-124586856	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv1802433	chr7:124365503-124385252	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124376800-124389400	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr7:124378000-124380600	Enhancers	Brain Substantia Nigra	brain
3	chr7:124378600-124384200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr7:124378600-124396600	Weak transcription	Fetal Lung	lung
5	chr7:124378800-124379600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:124378800-124382400	Weak transcription	Brain Angular Gyrus	brain
7	chr7:124379000-124380000	Weak transcription	Brain Hippocampus Middle	brain
8	chr7:124379000-124382400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr7:124379000-124382600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:124379000-124386600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

Quick Search:

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

what's new

Quick links