Variant report

Variant	rs56039253
Chromosome Location	chr20:40789427-40789428
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs17221326	0.85[EUR][1000 genomes]
rs17221823	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2903466	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55789113	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55796708	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55889296	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56256174	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56284628	0.84[EUR][1000 genomes]
rs6016698	0.84[EUR][1000 genomes]
rs6030012	0.83[EUR][1000 genomes]
rs6030014	0.82[EUR][1000 genomes]
rs6102693	0.83[EUR][1000 genomes]
rs6102696	0.83[EUR][1000 genomes]
rs73118438	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73120412	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73120420	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73120444	0.81[AMR][1000 genomes];0.83[EUR][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	esv2751913	chr20:40422982-41269321	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv532516	chr20:40451059-41097155	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:40788200-40790000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
2	chr20:40788600-40789800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr20:40788600-40790200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr20:40788600-40790800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr20:40789000-40789600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr20:40789000-40789600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
7	chr20:40789000-40789600	Enhancers	Fetal Stomach	stomach
8	chr20:40789200-40789600	Bivalent Enhancer	Fetal Brain Male	brain
9	chr20:40789400-40789800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
10	chr20:40789400-40789800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell

Quick Search:

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

what's new

Quick links