Variant report

Variant	rs12823818
Chromosome Location	chr12:47651008-47651009
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12818291	1.00[AFR][1000 genomes]
rs214653	1.00[AFR][1000 genomes]
rs214654	1.00[AFR][1000 genomes]
rs34778442	1.00[AFR][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	nsv469368	chr12:47374908-47675680	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv558784	chr12:47374908-47675680	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv832399	chr12:47502910-47689601	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2751100	chr12:47541390-47746157	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 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	chr12:47630400-47653600	Weak transcription	Primary B cells from cord blood	blood
2	chr12:47633200-47653800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr12:47636200-47653400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:47644000-47660600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:47644200-47653400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:47646200-47661000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr12:47647000-47653800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:47647000-47658600	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr12:47649800-47660600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:47650600-47660600	Weak transcription	NHEK	skin
11	chr12:47651000-47651200	ZNF genes & repeats	Primary T cells from cord blood	blood

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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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