Variant report

Variant	rs73315327
Chromosome Location	chr8:119485459-119485460
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs3897876	0.85[AFR][1000 genomes]
rs4131683	0.81[AFR][1000 genomes]
rs59768431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60721417	1.00[AMR][1000 genomes]
rs60773930	0.81[AFR][1000 genomes]
rs60786064	0.81[AFR][1000 genomes]
rs6985310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7003981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73313493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73313495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73313502	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73315306	0.81[AFR][1000 genomes]
rs73315332	0.81[AFR][1000 genomes]
rs73315346	1.00[AFR][1000 genomes]
rs73315353	0.81[AFR][1000 genomes]
rs73315356	0.81[AFR][1000 genomes]
rs73315362	0.81[AFR][1000 genomes]
rs73315371	0.81[AFR][1000 genomes]
rs7816941	0.81[AFR][1000 genomes]
rs7817492	0.81[AFR][1000 genomes]
rs7835770	0.81[AFR][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	nsv1032681	chr8:119153316-119609948	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv539737	chr8:119153316-119609948	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv831443	chr8:119390590-119590662	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 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	chr8:119480800-119488400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr8:119481200-119485800	Weak transcription	GM12878-XiMat	blood
3	chr8:119481600-119485600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:119481600-119488000	Weak transcription	Brain Substantia Nigra	brain
5	chr8:119484600-119486000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:119484600-119486000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:119484600-119486000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:119484800-119485600	Enhancers	HMEC	breast
9	chr8:119484800-119485800	Enhancers	Osteobl	bone
10	chr8:119484800-119486000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:119485000-119485600	Enhancers	HSMM	muscle
12	chr8:119485000-119485600	Enhancers	NHEK	skin
13	chr8:119485000-119485800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr8:119485000-119486000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:119485000-119486000	Enhancers	Hela-S3	cervix
16	chr8:119485000-119486000	Enhancers	NH-A	brain
17	chr8:119485200-119485600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr8:119485200-119485600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr8:119485200-119485600	Enhancers	Brain Hippocampus Middle	brain
20	chr8:119485200-119485600	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr8:119485200-119485600	Enhancers	NHDF-Ad	bronchial
22	chr8:119485200-119485800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr8:119485200-119486000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr8:119485200-119486000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr8:119485200-119486000	Enhancers	Right Atrium	heart
26	chr8:119485200-119486200	Enhancers	Brain Angular Gyrus	brain
27	chr8:119485200-119486200	Enhancers	Fetal Lung	lung
28	chr8:119485400-119485800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:119485400-119488400	Weak transcription	Brain Cingulate Gyrus	brain

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