Variant report

Variant	rs7273853
Chromosome Location	chr20:23211872-23211873
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 6 )

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

rs_ID	r²[population]
rs1538445	0.80[CHB][hapmap]
rs17682830	0.83[YRI][hapmap]
rs6076036	1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6083035	1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6083037	1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6083045	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6083046	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6132582	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6137856	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6137866	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6137875	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6137876	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[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

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs7273853	RP4-737E23.2	cis	Adipose Subcutaneous	GTEx
rs7273853	RP4-737E23.2	cis	Whole Blood	GTEx
rs7273853	RP4-737E23.2	cis	Artery Tibial	GTEx
rs7273853	RP4-737E23.2	cis	Thyroid	GTEx
rs7273853	RP4-737E23.2	cis	lung	GTEx
rs7273853	RP4-737E23.2	cis	Esophagus Muscularis	GTEx

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23205600-23212800	Enhancers	NHDF-Ad	bronchial
2	chr20:23205600-23213000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr20:23206200-23213000	Enhancers	Osteobl	bone
4	chr20:23208400-23212200	Weak transcription	HUVEC	blood vessel
5	chr20:23209200-23212800	Enhancers	NHLF	lung
6	chr20:23209400-23212200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr20:23209600-23212200	Weak transcription	NH-A	brain
8	chr20:23209800-23212200	Weak transcription	Ovary	ovary
9	chr20:23210200-23212000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr20:23210400-23212000	Weak transcription	HSMMtube	muscle
11	chr20:23211200-23216000	Enhancers	Stomach Mucosa	stomach
12	chr20:23211400-23212200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr20:23211400-23212600	Enhancers	Spleen	Spleen
14	chr20:23211400-23212800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr20:23211600-23212400	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr20:23211600-23212400	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr20:23211600-23212600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr20:23211600-23212600	Enhancers	Primary T cells from cord blood	blood
19	chr20:23211600-23212800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr20:23211600-23213200	Enhancers	HSMM	muscle
21	chr20:23211600-23213400	Enhancers	Hela-S3	cervix
22	chr20:23211600-23214000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr20:23211800-23212000	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr20:23211800-23212000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr20:23211800-23212400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr20:23211800-23212600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr20:23211800-23212600	Enhancers	Placenta	Placenta
28	chr20:23211800-23213000	Enhancers	Muscle Satellite Cultured Cells	--

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