Variant report

Variant	rs56794253
Chromosome Location	chr2:184872384-184872385
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1255544	1.00[EUR][1000 genomes]
rs1255545	1.00[EUR][1000 genomes]
rs16825660	1.00[EUR][1000 genomes]
rs16825664	1.00[EUR][1000 genomes]
rs16825691	1.00[EUR][1000 genomes]
rs60081057	1.00[AMR][1000 genomes]
rs60099677	1.00[EUR][1000 genomes]
rs73047050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73047087	1.00[EUR][1000 genomes]
rs73048923	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73978260	1.00[EUR][1000 genomes]
rs7599767	1.00[EUR][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	nsv1002074	chr2:184697897-184955330	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv875487	chr2:184737282-185186670	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv997475	chr2:184828307-184993186	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1013671	chr2:184830707-184882606	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1012023	chr2:184846782-184890545	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv583991	chr2:184855828-184954425	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv459975	chr2:184863746-184901392	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv583992	chr2:184863746-184901392	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:184870600-184872600	Enhancers	GM12878-XiMat	blood
2	chr2:184871600-184872400	Enhancers	Fetal Intestine Large	intestine
3	chr2:184871600-184872400	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr2:184872000-184872600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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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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