Variant report

Variant	rs56222244
Chromosome Location	chr13:51056626-51056627
allele	A/G
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:15)

rs_ID	r²[population]
rs200221	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs200226	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs201774	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs201775	1.00[ASN][1000 genomes]
rs201779	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs201785	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs201787	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs201788	1.00[ASN][1000 genomes]
rs201791	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2532978	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55804586	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55810037	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55901275	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56155205	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59065901	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	nsv832609	chr13:50946577-51065968	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1045237	chr13:50976560-51102386	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv1040	chr13:51041591-51090903	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv526482	chr13:51042258-51065836	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51041800-51060600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr13:51051800-51057200	Weak transcription	Fetal Heart	heart
3	chr13:51052200-51057400	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr13:51053000-51058600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr13:51053400-51058400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr13:51053400-51060200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr13:51053600-51058400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr13:51056400-51057400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr13:51056400-51060200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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