Variant report

Variant	rs2385531
Chromosome Location	chr8:50654989-50654990
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12550431	0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs13266251	0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs1390586	0.85[EUR][1000 genomes]
rs1486258	0.81[JPT][hapmap]
rs1496311	0.84[EUR][1000 genomes]
rs1496312	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1603402	0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs1982925	0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2029896	0.81[ASN][1000 genomes]
rs2029897	0.80[ASN][1000 genomes]
rs2385554	0.81[JPT][hapmap]
rs318851	0.81[JPT][hapmap]
rs318853	0.81[JPT][hapmap]
rs34841345	0.83[EUR][1000 genomes]
rs35623593	0.85[EUR][1000 genomes]
rs4873367	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7818806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7838183	0.82[AFR][1000 genomes];0.87[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	nsv917031	chr8:50207246-50709286	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2759612	chr8:50415233-50657352	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2758157	chr8:50415863-50657352	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3353749	chr8:50530807-51139242	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50654600-50655200	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr8:50654800-50655000	Enhancers	H1 Cell Line	embryonic stem cell
3	chr8:50654800-50655200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr8:50654800-50656600	Weak transcription	H9 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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