Variant report

Variant	rs2351745
Chromosome Location	chr12:30699349-30699350
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11832331	0.92[AFR][1000 genomes]
rs16906474	0.87[AFR][1000 genomes]
rs16906504	0.84[AFR][1000 genomes]
rs2351743	0.89[AFR][1000 genomes]
rs35707662	0.90[AFR][1000 genomes]
rs55645273	0.84[AFR][1000 genomes]
rs56379578	0.92[AFR][1000 genomes]
rs73079848	1.00[EUR][1000 genomes]

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	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv469192	chr12:30678625-30707035	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv558029	chr12:30678625-30707035	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv976029	chr12:30687283-30702050	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30698400-30699600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:30698600-30699600	Enhancers	HMEC	breast
3	chr12:30698800-30699400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:30698800-30699600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:30699000-30699400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:30699200-30699600	Enhancers	Hela-S3	cervix
7	chr12:30699200-30700800	Enhancers	Esophagus	oesophagus

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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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