Variant report

Variant	rs73249993
Chromosome Location	chr8:67071500-67071501
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16932554	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16932561	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6472253	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73249952	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73250000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73693918	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7834526	0.99[AFR][1000 genomes];0.87[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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67065400-67072200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:67068000-67072000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr8:67068600-67072600	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr8:67069200-67076400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:67069400-67072000	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr8:67069600-67071600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:67069600-67072000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:67069600-67072000	Enhancers	Osteobl	bone
9	chr8:67069600-67072200	Enhancers	NHDF-Ad	bronchial
10	chr8:67069600-67076400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr8:67069600-67076400	Weak transcription	Left Ventricle	heart
12	chr8:67069800-67072000	Enhancers	NH-A	brain
13	chr8:67069800-67072000	Enhancers	NHLF	lung
14	chr8:67070000-67072200	Genic enhancers	HSMM	muscle
15	chr8:67070200-67072000	Genic enhancers	HSMMtube	muscle
16	chr8:67070200-67080200	Weak transcription	Psoas Muscle	Psoas
17	chr8:67070400-67076400	Weak transcription	Right Atrium	heart
18	chr8:67071000-67071800	Genic enhancers	Fetal Heart	heart
19	chr8:67071200-67071600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr8:67071200-67072000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:67071400-67071600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr8:67071400-67071600	Enhancers	Fetal Muscle Leg	muscle
23	chr8:67071400-67072200	Strong transcription	Liver	Liver

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