Variant report

Variant	rs73819947
Chromosome Location	chr3:21715191-21715192
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs57398802	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57797125	1.00[AMR][1000 genomes]
rs58505761	1.00[AMR][1000 genomes]
rs59664195	1.00[AMR][1000 genomes]
rs60307599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60903413	1.00[AMR][1000 genomes]
rs6797953	1.00[AMR][1000 genomes]
rs73819934	1.00[AMR][1000 genomes]
rs73819937	1.00[AMR][1000 genomes]
rs73819941	1.00[AMR][1000 genomes]
rs73819942	1.00[AMR][1000 genomes]
rs73819943	0.89[AFR][1000 genomes]
rs73819944	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73819949	1.00[AMR][1000 genomes]
rs73819951	1.00[AMR][1000 genomes]
rs73819960	1.00[AMR][1000 genomes]
rs73822024	1.00[AMR][1000 genomes]
rs73822025	1.00[AMR][1000 genomes]
rs9813367	1.00[AMR][1000 genomes]
rs9828176	1.00[AMR][1000 genomes]
rs9830291	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534005	chr3:21387588-22003293	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1010460	chr3:21516810-21839871	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv834631	chr3:21612283-21763887	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv1007048	chr3:21666807-21865229	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv536516	chr3:21666807-21865229	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21707400-21719600	Weak transcription	Fetal Lung	lung
2	chr3:21707800-21719800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr3:21708000-21715600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr3:21708200-21719800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr3:21710000-21719600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr3:21710000-21724400	Weak transcription	Left Ventricle	heart
7	chr3:21711200-21719600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr3:21712200-21715200	Enhancers	HUVEC	blood vessel
9	chr3:21712400-21717400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:21713200-21715400	Enhancers	NH-A	brain
11	chr3:21713200-21715400	Enhancers	NHLF	lung
12	chr3:21713200-21715600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr3:21713800-21715200	Enhancers	Aorta	Aorta
14	chr3:21714200-21719600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr3:21714400-21715200	Enhancers	NHDF-Ad	bronchial
16	chr3:21715000-21718400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr3:21715000-21718400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr3:21715000-21728600	Weak transcription	Psoas Muscle	Psoas

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