Variant report

Variant	rs6137875
Chromosome Location	chr20:23225174-23225175
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:23215835..23217812-chr20:23224040..23226341,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1538445	0.89[CHB][hapmap]
rs6076036	0.83[CHB][hapmap]
rs6083035	0.83[CHB][hapmap]
rs6083037	0.83[CHB][hapmap]
rs6083045	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6083046	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6083050	0.83[CHB][hapmap]
rs6106615	0.89[CHB][hapmap]
rs6132573	0.89[CHB][hapmap]
rs6132582	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6137866	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6137876	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7273853	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs750653	0.89[CHB][hapmap]
rs844935	0.89[CHB][hapmap]

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

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs6137875	RP4-737E23.2	cis	lung	GTEx
rs6137875	RP4-737E23.2	cis	Whole Blood	GTEx
rs6137875	RP4-737E23.2	cis	Esophagus Muscularis	GTEx
rs6137875	RP4-737E23.2	cis	Artery Tibial	GTEx
rs6137875	RP4-737E23.2	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:23 , 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	chr20:23216200-23225400	Weak transcription	Right Atrium	heart
3	chr20:23222400-23226000	Weak transcription	Pancreas	Pancrea
4	chr20:23223600-23226600	Weak transcription	Fetal Muscle Leg	muscle
5	chr20:23224600-23225200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr20:23224600-23225200	Enhancers	Fetal Stomach	stomach
7	chr20:23224600-23225200	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr20:23224600-23225400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr20:23224600-23225400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr20:23224600-23226000	Enhancers	Placenta	Placenta
11	chr20:23224600-23227400	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr20:23224800-23225200	Enhancers	NHLF	lung
13	chr20:23224800-23225400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr20:23224800-23225400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr20:23224800-23225400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr20:23224800-23225400	Enhancers	HSMMtube	muscle
17	chr20:23224800-23225400	Flanking Active TSS	NHDF-Ad	bronchial
18	chr20:23224800-23225600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr20:23224800-23225600	Enhancers	HSMM	muscle
20	chr20:23224800-23225800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr20:23225000-23225400	Enhancers	Ovary	ovary
22	chr20:23225000-23225400	Flanking Active TSS	Osteobl	bone
23	chr20:23225000-23229400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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