Variant report

Variant	rs73678556
Chromosome Location	chr8:52310714-52310715
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs56333614	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60898127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73678506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73680850	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932026	chr8:51858658-52758574	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv948338	chr8:52060314-52368754	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv890895	chr8:52190571-52615191	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 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	chr8:52302800-52310800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:52303000-52310800	Weak transcription	Fetal Stomach	stomach
3	chr8:52307000-52312400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:52307600-52310800	Weak transcription	Spleen	Spleen
5	chr8:52307600-52320600	Weak transcription	Right Ventricle	heart
6	chr8:52308000-52310800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr8:52308600-52317800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:52308800-52310800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:52308800-52310800	Weak transcription	NHLF	lung
10	chr8:52309000-52310800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:52309000-52312400	Weak transcription	Gastric	stomach
12	chr8:52309000-52318200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr8:52309000-52319000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:52309400-52316000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:52309600-52310800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:52310200-52311400	Enhancers	Primary B cells from peripheral blood	blood
17	chr8:52310200-52312400	Enhancers	NH-A	brain
18	chr8:52310400-52312200	Enhancers	NHDF-Ad	bronchial
19	chr8:52310400-52312400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:52310600-52310800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:52310600-52311000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:52310600-52311000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:52310600-52311000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr8:52310600-52311200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:52310600-52311200	Enhancers	Left Ventricle	heart
26	chr8:52310600-52311400	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr8:52310600-52311400	Enhancers	Right Atrium	heart
28	chr8:52310600-52312200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:52310600-52312400	Enhancers	Osteobl	bone

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