Variant report

Variant	rs73602336
Chromosome Location	chr8:19979456-19979457
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11989335	1.00[AMR][1000 genomes]
rs12115034	1.00[AMR][1000 genomes]
rs57996813	1.00[AMR][1000 genomes]
rs58645035	1.00[AMR][1000 genomes]
rs59808638	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60424506	1.00[AMR][1000 genomes]
rs60929355	1.00[AMR][1000 genomes]
rs7001486	1.00[AMR][1000 genomes]
rs73600088	1.00[AMR][1000 genomes]
rs73602327	1.00[AMR][1000 genomes]
rs73602337	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73602344	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73606088	1.00[AMR][1000 genomes]
rs73606089	1.00[AMR][1000 genomes]
rs73608005	1.00[AMR][1000 genomes]
rs73612187	1.00[AMR][1000 genomes]
rs73612194	1.00[AMR][1000 genomes]
rs73612196	1.00[AMR][1000 genomes]
rs73612198	1.00[AMR][1000 genomes]
rs73612199	1.00[AMR][1000 genomes]
rs73614229	1.00[AMR][1000 genomes]
rs73614265	1.00[AMR][1000 genomes]
rs7819964	1.00[AMR][1000 genomes]
rs7825694	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv890633	chr8:19875100-19985382	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1015598	chr8:19963102-20088510	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv539523	chr8:19963102-20088510	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv8311	chr8:19975043-19980924	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv890634	chr8:19976239-20028474	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19975800-19980000	Weak transcription	NHEK	skin
2	chr8:19977600-19980000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr8:19978000-19979600	Weak transcription	HUVEC	blood vessel
4	chr8:19978000-19981000	Weak transcription	Fetal Lung	lung
5	chr8:19978000-19981000	Weak transcription	Fetal Muscle Leg	muscle
6	chr8:19978000-19993600	Weak transcription	Right Ventricle	heart
7	chr8:19978200-19979600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:19978200-19980800	Weak transcription	Adipose Nuclei	Adipose
9	chr8:19978200-19981000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr8:19978200-19981000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr8:19978200-19987000	Weak transcription	Left Ventricle	heart
12	chr8:19978400-19979600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:19978400-19980000	Weak transcription	Hela-S3	cervix
14	chr8:19978400-19980400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:19978400-19980600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:19978400-19981000	Weak transcription	A549	lung
17	chr8:19978400-19981200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr8:19978400-19983000	Weak transcription	Right Atrium	heart
19	chr8:19978600-19982000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:19979000-19979600	Enhancers	NH-A	brain
21	chr8:19979200-19980200	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
22	chr8:19979400-19979600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:19979400-19979600	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:19979400-19979600	Bivalent Enhancer	Osteobl	bone
25	chr8:19979400-19980200	Enhancers	Placenta Amnion	Placenta Amnion
26	chr8:19979400-19980200	Bivalent Enhancer	NHDF-Ad	bronchial
27	chr8:19979400-19981200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:19979400-19981200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:19979400-19981200	Enhancers	HMEC	breast

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