Variant report

Variant	rs73693316
Chromosome Location	chr8:78032711-78032712
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs55976934	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56085652	0.84[AFR][1000 genomes]
rs58858180	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73691608	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73693314	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73693318	1.00[AFR][1000 genomes]
rs73693319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73693320	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73693321	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73693324	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73693325	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73693326	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73693341	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891045	chr8:77998659-78477561	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1020007	chr8:78021376-78059834	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:78030000-78033000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:78030000-78033000	Enhancers	Muscle Satellite Cultured Cells	--
3	chr8:78030200-78032800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:78030200-78033200	Enhancers	NHEK	skin
5	chr8:78030400-78032800	Enhancers	Hela-S3	cervix
6	chr8:78030600-78032800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:78030600-78032800	Enhancers	HSMMtube	muscle
8	chr8:78030600-78033000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:78030800-78032800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:78030800-78032800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:78031000-78033000	Enhancers	NH-A	brain
12	chr8:78031200-78032800	Enhancers	HSMM	muscle
13	chr8:78031200-78033000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:78031200-78033600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr8:78031400-78032800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:78031400-78032800	Enhancers	Fetal Muscle Leg	muscle
17	chr8:78031400-78032800	Enhancers	Fetal Stomach	stomach
18	chr8:78031400-78033000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr8:78031600-78033800	Weak transcription	HMEC	breast
20	chr8:78031800-78032800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:78031800-78033200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:78031800-78033400	Enhancers	HUVEC	blood vessel
23	chr8:78032000-78032800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr8:78032000-78032800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr8:78032000-78032800	Enhancers	Brain Germinal Matrix	brain
26	chr8:78032200-78032800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr8:78032200-78033000	Enhancers	Osteobl	bone
28	chr8:78032400-78032800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:78032400-78032800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr8:78032400-78032800	Enhancers	Fetal Muscle Trunk	muscle
31	chr8:78032400-78033000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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