Variant report

Variant	rs6548628
Chromosome Location	chr3:79569558-79569559
allele	A/C
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:17)

rs_ID	r²[population]
rs11127644	0.97[ASN][1000 genomes]
rs11707288	0.85[GIH][hapmap]
rs12495410	0.94[MEX][hapmap]
rs1387665	0.94[MEX][hapmap]
rs4361245	0.81[AMR][1000 genomes]
rs4527338	0.85[GIH][hapmap]
rs4535189	0.94[MEX][hapmap]
rs6803202	0.94[MEX][hapmap]
rs7647105	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs9815393	0.85[GIH][hapmap]
rs9826366	0.83[CEU][hapmap]
rs9842315	0.81[CEU][hapmap]
rs9848085	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9848224	0.81[AMR][1000 genomes]
rs9853895	0.85[GIH][hapmap]
rs9857859	0.85[GIH][hapmap]
rs9882489	0.95[CHB][hapmap];1.00[JPT][hapmap]

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	nsv834747	chr3:79441211-79591923	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
2	esv3394288	chr3:79545122-79715746	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
3	nsv877021	chr3:79560604-79892470	Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 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	chr3:79564800-79570200	Weak transcription	Fetal Lung	lung
2	chr3:79565000-79570000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr3:79565000-79570600	Weak transcription	Fetal Brain Male	brain
4	chr3:79565800-79570600	Weak transcription	Brain Germinal Matrix	brain
5	chr3:79566600-79570600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:79566600-79570600	Weak transcription	HUVEC	blood vessel
7	chr3:79568400-79570600	Weak transcription	Fetal Heart	heart
8	chr3:79569400-79569600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr3:79569400-79570600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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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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