Variant report

Variant	rs2050734
Chromosome Location	chr20:23228946-23228947
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1572708	1.00[ASN][1000 genomes]
rs1572709	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1578078	0.83[EUR][1000 genomes]
rs2050735	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35073727	0.81[EUR][1000 genomes]
rs4815182	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7270823	0.90[EUR][1000 genomes];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	nsv912817	chr20:23127661-23240969	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1066734	chr20:23170094-23277628	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23214200-23241000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:23225000-23229400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr20:23225400-23229400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr20:23225400-23229400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr20:23225600-23235600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr20:23226000-23229200	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr20:23226200-23229400	Enhancers	GM12878-XiMat	blood
8	chr20:23226400-23234200	Weak transcription	Fetal Kidney	kidney
9	chr20:23226600-23229200	Enhancers	Fetal Muscle Trunk	muscle
10	chr20:23226800-23229200	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr20:23226800-23233000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr20:23226800-23237000	Weak transcription	Gastric	stomach
13	chr20:23227000-23232000	Weak transcription	Monocytes-CD14+_RO01746	blood

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