Variant report

Variant	rs1338943
Chromosome Location	chr20:23210009-23210010
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1005856	0.93[ASN][1000 genomes]
rs11896	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1538445	1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs4813483	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6076035	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6076040	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6083031	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6083042	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6083044	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6083047	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6083050	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6106615	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6106616	0.89[ASN][1000 genomes]
rs6106617	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6106619	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6113992	0.91[ASN][1000 genomes]
rs6114001	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6114004	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6132573	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6132576	0.91[ASN][1000 genomes]
rs6132580	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62206883	0.88[ASN][1000 genomes]
rs750653	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs844935	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1338943	RP4-737E23.2	cis	lung	GTEx

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23205400-23211400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr20:23205600-23212800	Enhancers	NHDF-Ad	bronchial
3	chr20:23205600-23213000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr20:23205800-23210400	Enhancers	Muscle Satellite Cultured Cells	--
5	chr20:23206200-23213000	Enhancers	Osteobl	bone
6	chr20:23207400-23211600	Weak transcription	Hela-S3	cervix
7	chr20:23208200-23211600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr20:23208400-23211200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr20:23208400-23211400	Weak transcription	Lung	lung
10	chr20:23208400-23212200	Weak transcription	HUVEC	blood vessel
11	chr20:23208600-23210400	Enhancers	HSMMtube	muscle
12	chr20:23209000-23210200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr20:23209000-23210400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr20:23209200-23210200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr20:23209200-23210200	Enhancers	Colon Smooth Muscle	Colon
16	chr20:23209200-23212800	Enhancers	NHLF	lung
17	chr20:23209400-23212200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr20:23209600-23212200	Weak transcription	NH-A	brain
19	chr20:23209800-23211600	Weak transcription	Fetal Muscle Leg	muscle
20	chr20:23209800-23211800	Weak transcription	Placenta	Placenta
21	chr20:23209800-23212200	Weak transcription	Ovary	ovary
22	chr20:23210000-23210200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr20:23210000-23211200	Weak transcription	Fetal Stomach	stomach
24	chr20:23210000-23211600	Weak transcription	HSMM	muscle

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