Variant report

Variant	rs4712082
Chromosome Location	chr6:54771019-54771020
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1393776	0.83[EUR][1000 genomes]
rs1566723	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs171224	0.80[CHB][hapmap]
rs181155	0.80[CHB][hapmap]
rs1963697	1.00[JPT][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2207026	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs239781	0.81[JPT][hapmap]
rs239794	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs239801	0.80[CHB][hapmap]
rs239815	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2746443	0.83[ASN][1000 genomes]
rs2816810	0.89[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs421957	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6459034	0.86[CHB][hapmap]
rs9382403	0.81[JPT][hapmap]
rs9475078	0.80[EUR][1000 genomes]
rs988913	0.83[EUR][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	nsv885900	chr6:54517968-54852462	Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv2763553	chr6:54687979-54820487	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54758000-54775000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:54762000-54775000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr6:54762200-54775000	Weak transcription	Fetal Intestine Small	intestine
4	chr6:54763600-54775000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr6:54765600-54774400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr6:54765800-54780800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:54766800-54771600	Weak transcription	Fetal Lung	lung
8	chr6:54769000-54780800	Weak transcription	NHEK	skin
9	chr6:54770000-54775000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr6:54770000-54775000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:54770000-54781200	Weak transcription	HMEC	breast

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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