Variant report

Variant	rs1076749
Chromosome Location	chr20:22789029-22789030
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:11)

rs_ID	r²[population]
rs2207171	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2207173	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6036220	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6036226	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6048366	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6048370	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6048371	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6048374	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6082851	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs879730	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs879731	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv544213	chr20:22722740-22791150	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv912816	chr20:22757960-23062927	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv3334	chr20:22773462-22818362	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22782200-22790000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:22784000-22791400	Weak transcription	HMEC	breast
3	chr20:22785800-22791000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr20:22785800-22793200	Enhancers	Stomach Mucosa	stomach
5	chr20:22786400-22789800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr20:22786400-22796600	Weak transcription	HSMMtube	muscle
7	chr20:22787400-22792800	Enhancers	Fetal Muscle Leg	muscle
8	chr20:22787600-22791200	Weak transcription	Gastric	stomach
9	chr20:22788000-22789800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr20:22788000-22791200	Weak transcription	Placenta	Placenta
11	chr20:22788400-22789200	Enhancers	Lung	lung
12	chr20:22788600-22789200	Enhancers	Fetal Lung	lung
13	chr20:22788600-22789200	Enhancers	A549	lung
14	chr20:22788800-22789200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr20:22788800-22791400	Weak transcription	Pancreas	Pancrea
16	chr20:22789000-22789200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr20:22789000-22789800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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