Variant report

Variant	rs28675952
Chromosome Location	chr12:123199676-123199677
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11059504	0.81[AMR][1000 genomes]
rs11059507	0.81[AMR][1000 genomes]
rs3825156	0.87[AMR][1000 genomes]
rs55776099	0.87[AMR][1000 genomes]
rs61955029	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv13329	chr12:123178106-123210671	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
2	nsv973132	chr12:123184783-123201537	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
3	esv8582	chr12:123186451-123200127	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
4	esv3504363	chr12:123186465-123200093	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
5	esv3504374	chr12:123186465-123200093	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
6	esv3493297	chr12:123187437-123200966	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
7	esv3493308	chr12:123187437-123200966	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
8	esv3348872	chr12:123192296-123213461	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123174000-123199800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr12:123192600-123199800	Weak transcription	HepG2	liver
3	chr12:123195400-123202200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr12:123195600-123200000	Weak transcription	Placenta	Placenta
5	chr12:123196200-123200800	Weak transcription	GM12878-XiMat	blood
6	chr12:123198800-123200200	Active TSS	Primary hematopoietic stem cells	blood
7	chr12:123198800-123201400	Active TSS	Primary B cells from cord blood	blood
8	chr12:123198800-123201400	Enhancers	NHEK	skin
9	chr12:123199200-123200200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:123199200-123200600	Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr12:123199200-123200800	Weak transcription	Spleen	Spleen
12	chr12:123199400-123199800	Active TSS	Monocytes-CD14+_RO01746	blood
13	chr12:123199400-123201000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:123199400-123204600	Weak transcription	HMEC	breast
15	chr12:123199600-123200200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:123199600-123200200	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr12:123199600-123201600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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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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