Variant report

Variant	rs74074553
Chromosome Location	chr1:56299345-56299346
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs55717231	1.00[AFR][1000 genomes]
rs55851855	0.88[AFR][1000 genomes]
rs57076970	0.81[AFR][1000 genomes]
rs74072514	1.00[AFR][1000 genomes]
rs74072517	0.81[AFR][1000 genomes]
rs74072518	1.00[AFR][1000 genomes]
rs74072529	1.00[AFR][1000 genomes]
rs74072531	1.00[AFR][1000 genomes]
rs74074534	0.88[AFR][1000 genomes]
rs74074536	0.88[AFR][1000 genomes]
rs74074548	0.88[AFR][1000 genomes]
rs74074554	1.00[AFR][1000 genomes]
rs74074555	0.89[AFR][1000 genomes]
rs74074558	1.00[AFR][1000 genomes]
rs74074572	0.94[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829926	chr1:56188492-56360745	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56292400-56299400	Weak transcription	Fetal Kidney	kidney
2	chr1:56295200-56320400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:56297400-56301400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:56298000-56300800	Enhancers	Fetal Lung	lung
5	chr1:56298000-56302000	Enhancers	Fetal Stomach	stomach
6	chr1:56298400-56300000	Enhancers	Fetal Brain Male	brain
7	chr1:56298600-56299800	Enhancers	Fetal Brain Female	brain
8	chr1:56298600-56299800	Enhancers	NHLF	lung
9	chr1:56298600-56300000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:56298600-56300000	Enhancers	Fetal Muscle Leg	muscle
11	chr1:56298600-56300400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:56298600-56300800	Enhancers	Colon Smooth Muscle	Colon
13	chr1:56298800-56299600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:56298800-56300000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:56298800-56300200	Enhancers	Osteobl	bone
16	chr1:56298800-56302000	Weak transcription	Aorta	Aorta
17	chr1:56299000-56299600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:56299000-56300000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:56299000-56300200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:56299000-56300200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr1:56299000-56300400	Enhancers	Rectal Smooth Muscle	rectum
22	chr1:56299200-56299600	Weak transcription	Ovary	ovary
23	chr1:56299200-56299800	Flanking Active TSS	NHDF-Ad	bronchial
24	chr1:56299200-56300000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr1:56299200-56300000	Enhancers	Stomach Smooth Muscle	stomach

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