Variant report

Variant	rs4239744
Chromosome Location	chr20:23859019-23859020
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1799841	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2071442	0.94[ASN][1000 genomes]
rs2285059	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4075883	0.93[ASN][1000 genomes]
rs4350819	0.93[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs4813509	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4815244	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6036565	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491876	chr20:23436633-24031374	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv833944	chr20:23806288-24021865	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv585730	chr20:23809681-23862844	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3411629	chr20:23855752-23860150	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
5	nsv964382	chr20:23856148-23862860	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
6	esv3432957	chr20:23858584-23901200	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23848800-23860400	Enhancers	Fetal Thymus	thymus
2	chr20:23851400-23859400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr20:23852400-23864800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr20:23854800-23860600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr20:23857400-23860600	Weak transcription	Colon Smooth Muscle	Colon
6	chr20:23858000-23859600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr20:23858200-23859600	Enhancers	HMEC	breast
8	chr20:23858200-23862800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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