Variant report

Variant	rs55847809
Chromosome Location	chr12:56048922-56048923
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17117846	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17511746	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55644943	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55819151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56243753	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56377768	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66592094	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73114979	0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs73114980	0.81[ASN][1000 genomes]
rs73114982	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73117220	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73117228	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73117233	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73117248	0.92[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	nsv559001	chr12:55507465-56057708	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv948625	chr12:55838718-56118833	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 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	chr12:56045400-56050200	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr12:56045600-56049200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:56045800-56050800	Weak transcription	HepG2	liver
4	chr12:56046400-56050200	Weak transcription	Duodenum Mucosa	Duodenum
5	chr12:56046600-56050200	Weak transcription	Primary B cells from peripheral blood	blood
6	chr12:56047000-56049800	Weak transcription	Fetal Intestine Small	intestine
7	chr12:56047000-56050000	Weak transcription	Fetal Intestine Large	intestine
8	chr12:56048400-56049000	Enhancers	Lung	lung
9	chr12:56048400-56049000	Enhancers	HSMM	muscle
10	chr12:56048400-56049400	Enhancers	Fetal Muscle Leg	muscle
11	chr12:56048600-56050400	Enhancers	Fetal Muscle Trunk	muscle

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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