Variant report

Variant	rs561751
Chromosome Location	chr5:88608282-88608283
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs173784	0.86[ASN][1000 genomes]
rs187571	0.88[ASN][1000 genomes]
rs194132	0.86[ASN][1000 genomes]
rs2162865	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2250032	0.95[ASN][1000 genomes]
rs253298	0.87[ASN][1000 genomes]
rs2545608	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2545612	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3095912	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs32884	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32885	0.85[EUR][1000 genomes]
rs34702	0.88[ASN][1000 genomes]
rs40088	0.87[ASN][1000 genomes]
rs771436	0.88[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	nsv532159	chr5:88016214-88783092	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv533373	chr5:88062497-89028098	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv529543	chr5:88348147-88783092	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv830387	chr5:88547862-88682442	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv830388	chr5:88578939-88793870	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv3388380	chr5:88605146-88608419	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3408629	chr5:88605221-88608569	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:88599600-88609600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr5:88604800-88609000	Weak transcription	K562	blood
3	chr5:88605000-88608800	Weak transcription	Primary B cells from peripheral blood	blood
4	chr5:88605000-88608800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:88605000-88609600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr5:88605200-88609400	Weak transcription	Primary B cells from cord blood	blood
7	chr5:88605400-88608400	Weak transcription	HMEC	breast
8	chr5:88607800-88608800	Enhancers	GM12878-XiMat	blood
9	chr5:88608200-88609000	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr5:88608200-88611600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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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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