Variant report

Variant	rs320508
Chromosome Location	chr8:112906635-112906636
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10808450	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11986911	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13251751	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13252457	0.81[CEU][hapmap]
rs13260037	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13267991	0.82[EUR][1000 genomes]
rs1380865	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1460590	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1551724	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1585434	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1947675	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1947676	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2221769	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs320504	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs320511	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7005356	0.81[ASN][1000 genomes]
rs7462248	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015355	chr8:112558586-113154605	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv539722	chr8:112558586-113154605	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1023006	chr8:112756497-113141033	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv539724	chr8:112756497-113141033	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv533857	chr8:112819659-113801258	Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
6	nsv6350	chr8:112864932-112909643	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv3398124	chr8:112902576-112909574	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
8	nsv972202	chr8:112905099-112914431	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:112901800-112907200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:112905800-112907800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr8:112906200-112907000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr8:112906600-112907600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:112906600-112907600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr8:112906600-112907600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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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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