Variant report

Variant	rs2669033
Chromosome Location	chr13:30248969-30248970
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1023162	0.86[ASN][1000 genomes]
rs1023163	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1093774	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1104261	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs12428341	0.89[ASN][1000 genomes]
rs17073936	1.00[CHB][hapmap]
rs182178	1.00[CHB][hapmap]
rs1886170	1.00[CHB][hapmap]
rs2089944	0.84[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2234417	1.00[CHB][hapmap]
rs2388240	0.83[ASN][1000 genomes]
rs2388244	1.00[CHB][hapmap]
rs2776951	0.94[EUR][1000 genomes]
rs278037	1.00[CHB][hapmap]
rs280908	0.95[YRI][hapmap]
rs280920	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs280921	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs280948	0.90[ASN][1000 genomes]
rs280957	0.86[ASN][1000 genomes]
rs280958	0.86[ASN][1000 genomes]
rs280959	0.90[ASN][1000 genomes]
rs280960	0.86[ASN][1000 genomes]
rs35803474	0.96[ASN][1000 genomes]
rs542930	0.96[ASN][1000 genomes]
rs547522	1.00[ASN][1000 genomes]
rs563819	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs566688	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs573080	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs598281	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs630273	0.83[YRI][hapmap]
rs819102	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs819104	0.90[ASN][1000 genomes]
rs819406	0.84[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs819408	0.94[EUR][1000 genomes]
rs943564	0.83[ASN][1000 genomes]
rs9508556	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv510577	chr13:30213612-30254316	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv899961	chr13:30226924-30407273	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30233800-30249800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:30248200-30250200	Enhancers	Hela-S3	cervix
3	chr13:30248600-30249600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr13:30248600-30252200	Enhancers	NHDF-Ad	bronchial
5	chr13:30248800-30249000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr13:30248800-30249000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr13:30248800-30249600	Weak transcription	NH-A	brain
8	chr13:30248800-30250600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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