Variant report

Variant	rs11183557
Chromosome Location	chr12:47086691-47086692
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:15)

rs_ID	r²[population]
rs12299524	0.85[AFR][1000 genomes]
rs12300875	0.85[AFR][1000 genomes]
rs12308056	1.00[AFR][1000 genomes]
rs12310253	0.81[AFR][1000 genomes]
rs12312764	0.98[AFR][1000 genomes]
rs12314549	0.92[AFR][1000 genomes]
rs12315703	1.00[AFR][1000 genomes]
rs12316011	0.98[AFR][1000 genomes]
rs12318292	0.81[AFR][1000 genomes]
rs12319714	0.81[AFR][1000 genomes]
rs12320094	0.85[AFR][1000 genomes]
rs1946173	1.00[AFR][1000 genomes]
rs235614	0.86[AFR][1000 genomes]
rs235615	0.86[AFR][1000 genomes]
rs235620	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	esv3416674	chr12:46988689-47178369	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv558783	chr12:46996632-47144856	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv1845143	chr12:47051076-47431496	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47074800-47091200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:47077800-47091200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr12:47085600-47095200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:47085800-47087600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr12:47086200-47088200	Enhancers	HSMM	muscle
6	chr12:47086400-47087200	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr12:47086600-47087000	Enhancers	HSMMtube	muscle

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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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