Variant report

Variant	rs55644943
Chromosome Location	chr12:56051058-56051059
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Variant related genes	Relation type
ENSG00000258907	TF binding region
ENSG00000258056	Chromatin interaction
ENSG00000270458	Chromatin interaction
ENSG00000135437	Chromatin interaction
ENSG00000135414	Chromatin interaction
ENSG00000135404	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17117846	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17511746	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55819151	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55847809	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56243753	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56377768	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66592094	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73114979	0.81[AMR][1000 genomes]
rs73117220	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73117228	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73117233	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73117248	1.00[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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56049000-56051400	Weak transcription	Lung	lung
2	chr12:56049000-56052600	Weak transcription	HSMM	muscle
3	chr12:56049800-56054200	Enhancers	Fetal Intestine Small	intestine
4	chr12:56050000-56053600	Enhancers	Fetal Intestine Large	intestine
5	chr12:56050200-56051400	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr12:56050200-56052200	Weak transcription	Fetal Heart	heart
7	chr12:56050200-56052800	Enhancers	Duodenum Mucosa	Duodenum
8	chr12:56050400-56052200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr12:56050800-56051400	Enhancers	HepG2	liver
10	chr12:56050800-56052200	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr12:56050800-56052600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr12:56051000-56051200	Enhancers	Small Intestine	intestine
13	chr12:56051000-56051800	Enhancers	Left Ventricle	heart
14	chr12:56051000-56052400	Weak transcription	Monocytes-CD14+_RO01746	blood

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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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