Variant report

Variant	rs12580474
Chromosome Location	chr12:104259524-104259525
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:10)

rs_ID	r²[population]
rs11612613	0.99[ASN][1000 genomes]
rs12426161	1.00[ASN][1000 genomes]
rs12582800	0.92[ASN][1000 genomes]
rs12582917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17035056	1.00[AFR][1000 genomes]
rs17795947	0.94[ASN][1000 genomes]
rs2293619	1.00[AFR][1000 genomes]
rs55919036	0.99[ASN][1000 genomes]
rs59879726	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs728167	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34031	chr12:104114277-104298546	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104250000-104263800	Weak transcription	Liver	Liver
2	chr12:104253600-104261600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:104254800-104278200	Weak transcription	Aorta	Aorta
4	chr12:104255600-104262200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:104257800-104260200	Enhancers	HMEC	breast
6	chr12:104257800-104260400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:104258000-104259800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:104258000-104260200	Enhancers	NHEK	skin
9	chr12:104258000-104261800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr12:104258600-104259600	Enhancers	HSMMtube	muscle
11	chr12:104259000-104260400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:104259200-104260200	Weak transcription	Colon Smooth Muscle	Colon
13	chr12:104259200-104261400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr12:104259200-104261400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr12:104259200-104262400	Weak transcription	HSMM	muscle
16	chr12:104259200-104263800	Weak transcription	HepG2	liver

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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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