Variant report

Variant	rs72908752
Chromosome Location	chr4:100576100-100576101
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:7)

rs_ID	r²[population]
rs2718683	0.82[AFR][1000 genomes]
rs72908744	0.82[AFR][1000 genomes]
rs72908757	1.00[AFR][1000 genomes]
rs72908758	1.00[AFR][1000 genomes]
rs72908760	1.00[AFR][1000 genomes]
rs72908761	1.00[AFR][1000 genomes]
rs72908762	1.00[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	nsv933074	chr4:100460951-100630600	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100567800-100579200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr4:100570200-100576200	Weak transcription	Fetal Lung	lung
3	chr4:100571000-100576200	Weak transcription	Brain Anterior Caudate	brain
4	chr4:100574800-100576200	Active TSS	Skeletal Muscle Male	skeletal muscle
5	chr4:100575000-100577200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:100575200-100577200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:100575400-100576600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
8	chr4:100575400-100576800	Enhancers	Fetal Brain Male	brain
9	chr4:100575800-100576600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:100575800-100576600	Active TSS	Right Ventricle	heart
11	chr4:100575800-100576800	Weak transcription	Left Ventricle	heart
12	chr4:100575800-100577000	Enhancers	Rectal Smooth Muscle	rectum
13	chr4:100575800-100577600	Enhancers	Hela-S3	cervix
14	chr4:100575800-100579800	Weak transcription	Right Atrium	heart
15	chr4:100576000-100576200	Flanking Active TSS	Fetal Heart	heart
16	chr4:100576000-100576400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:100576000-100576400	Weak transcription	Aorta	Aorta
18	chr4:100576000-100576400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr4:100576000-100576400	Active TSS	Fetal Muscle Leg	muscle
20	chr4:100576000-100576400	Weak transcription	Ovary	ovary
21	chr4:100576000-100576400	Active TSS	HSMMtube	muscle
22	chr4:100576000-100576600	Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr4:100576000-100577000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:100576000-100577000	Enhancers	HSMM	muscle
25	chr4:100576000-100577200	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr4:100576000-100579400	Weak transcription	Psoas Muscle	Psoas

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