Variant report

Variant	rs72748180
Chromosome Location	chr5:43999024-43999025
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:43998642..44000714-chr5:44004356..44005906,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs34989022	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35092969	0.88[AFR][1000 genomes]
rs35789639	0.86[AFR][1000 genomes]
rs4507492	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4563636	0.82[AFR][1000 genomes]
rs56094704	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56403488	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59860030	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6451736	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6451737	0.90[AFR][1000 genomes]
rs6860169	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6860696	0.93[AFR][1000 genomes]
rs6864990	0.91[AFR][1000 genomes]
rs6869533	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6875608	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6876807	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6880063	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6886184	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6886270	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6886917	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6886955	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6887519	0.82[AFR][1000 genomes]
rs72748183	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72750167	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9687508	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830374	chr5:43785548-44341631	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1019047	chr5:43939693-44301657	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv830276	chr5:43951430-44150855	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43997000-43999200	Enhancers	Ovary	ovary
2	chr5:43997200-43999200	Enhancers	Liver	Liver
3	chr5:43998000-43999400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:43998000-44002000	Weak transcription	Pancreas	Pancrea
5	chr5:43998000-44002000	Weak transcription	NHLF	lung
6	chr5:43998200-44000000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:43998200-44002000	Weak transcription	NHDF-Ad	bronchial
8	chr5:43998400-44001200	Weak transcription	Stomach Mucosa	stomach
9	chr5:43998400-44001800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:43998400-44002000	Weak transcription	Gastric	stomach
11	chr5:43998400-44003000	Enhancers	Fetal Lung	lung
12	chr5:43998400-44005000	Enhancers	HepG2	liver
13	chr5:43998600-44002000	Weak transcription	Hela-S3	cervix
14	chr5:43998800-43999200	Enhancers	Fetal Stomach	stomach
15	chr5:43998800-44001200	Weak transcription	Adipose Nuclei	Adipose
16	chr5:43998800-44002000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:43998800-44002000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr5:43999000-43999200	Enhancers	Stomach Smooth Muscle	stomach
19	chr5:43999000-43999800	Enhancers	Aorta	Aorta
20	chr5:43999000-44001000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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