Variant report

Variant	rs6453256
Chromosome Location	chr5:76154846-76154847
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12697859	0.87[EUR][1000 genomes]
rs13187905	0.86[EUR][1000 genomes]
rs1988638	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2359422	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2359423	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2434660	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2460505	0.87[EUR][1000 genomes]
rs2460508	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv3393424	chr5:76122720-76287744	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv34133	chr5:76138696-76239330	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:76148400-76156800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr5:76152200-76155800	Weak transcription	Small Intestine	intestine
3	chr5:76152600-76155600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr5:76152600-76157200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:76152800-76156800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr5:76153000-76156600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr5:76153000-76174400	Weak transcription	Primary T cells from cord blood	blood
8	chr5:76153200-76155000	Weak transcription	Fetal Intestine Small	intestine
9	chr5:76153600-76156400	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr5:76154400-76156600	Enhancers	Duodenum Mucosa	Duodenum
11	chr5:76154600-76155000	Weak transcription	Stomach Mucosa	stomach
12	chr5:76154600-76156200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr5:76154800-76156400	Enhancers	Fetal Intestine Large	intestine
14	chr5:76154800-76162800	Weak transcription	Primary hematopoietic stem cells	blood

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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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