Variant report

Variant	rs523756
Chromosome Location	chr1:76708964-76708965
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1093559	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1093560	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2992635	0.86[EUR][1000 genomes]
rs472536	0.84[ASN][1000 genomes]
rs519797	0.84[ASN][1000 genomes]
rs536811	0.82[EUR][1000 genomes]
rs536913	0.82[ASN][1000 genomes]
rs551269	0.82[EUR][1000 genomes]
rs569850	0.80[ASN][1000 genomes]
rs572623	0.80[ASN][1000 genomes]
rs573657	0.80[ASN][1000 genomes]
rs574927	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870621	chr1:76620313-76997071	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1008763	chr1:76692057-76723417	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv1001452	chr1:76692057-76724652	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv546584	chr1:76693367-76721164	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv523526	chr1:76695356-76721164	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1499	chr1:76704981-76749688	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76705000-76712800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:76705600-76712800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:76705600-76712800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:76706400-76709600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:76707800-76709200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:76708400-76712800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:76708800-76710600	Weak transcription	Fetal Lung	lung

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

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