Variant report

Variant	rs2251553
Chromosome Location	chr6:132994028-132994029
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1016503	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2179536	0.82[CHB][hapmap]
rs2745432	0.82[CHB][hapmap]
rs2745434	0.82[CHB][hapmap]
rs2840806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2840810	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34114446	1.00[AFR][1000 genomes]
rs34647336	1.00[AFR][1000 genomes]
rs4330555	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45512491	1.00[AFR][1000 genomes]
rs55646119	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6938367	0.82[CHB][hapmap]
rs71574629	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532069	chr6:132776411-133462292	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1015742	chr6:132933666-133285852	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132991000-132995200	Enhancers	Fetal Intestine Large	intestine
2	chr6:132991000-132995200	Enhancers	Fetal Intestine Small	intestine
3	chr6:132991400-132997200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr6:132991800-132996400	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr6:132991800-132997000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:132992000-132996200	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr6:132992400-132996200	Weak transcription	Primary B cells from cord blood	blood
8	chr6:132993200-133002200	Weak transcription	Liver	Liver
9	chr6:132993600-132995200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:132993800-132994200	Weak transcription	Small Intestine	intestine
11	chr6:132993800-132994200	Weak transcription	HepG2	liver
12	chr6:132993800-132994400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr6:132993800-132996800	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr6:132994000-132994200	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr6:132994000-132994400	Enhancers	Foreskin Melanocyte 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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