Variant report

Variant	rs72748178
Chromosome Location	chr5:43997895-43997896
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:43996877..43998407-chr5:44002800..44004617,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs4256351	1.00[EUR][1000 genomes]
rs4526111	1.00[EUR][1000 genomes]
rs55729179	1.00[EUR][1000 genomes]
rs55742498	0.81[EUR][1000 genomes]
rs56260024	1.00[EUR][1000 genomes]
rs56310009	1.00[EUR][1000 genomes]
rs6451738	0.93[EUR][1000 genomes]
rs6451739	0.91[EUR][1000 genomes]
rs72748143	0.93[EUR][1000 genomes]
rs72748153	1.00[EUR][1000 genomes]
rs72748154	1.00[EUR][1000 genomes]
rs72748156	1.00[EUR][1000 genomes]
rs72748159	1.00[EUR][1000 genomes]
rs72748163	1.00[EUR][1000 genomes]
rs72748164	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72748168	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72748169	1.00[EUR][1000 genomes]
rs72748187	1.00[EUR][1000 genomes]
rs72748197	1.00[EUR][1000 genomes]
rs72748198	1.00[EUR][1000 genomes]
rs72748200	1.00[EUR][1000 genomes]
rs72750162	0.91[EUR][1000 genomes]
rs72750165	1.00[EUR][1000 genomes]
rs72750171	0.97[EUR][1000 genomes]
rs72764223	0.87[EUR][1000 genomes]
rs72764224	0.87[EUR][1000 genomes]
rs72764226	0.81[EUR][1000 genomes]
rs72764227	0.87[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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43993800-43998000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr5:43997000-43998000	Enhancers	Pancreas	Pancrea
3	chr5:43997000-43999200	Enhancers	Ovary	ovary
4	chr5:43997200-43999200	Enhancers	Liver	Liver
5	chr5:43997400-43998000	Enhancers	NHLF	lung
6	chr5:43997400-43998200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr5:43997600-43998000	Enhancers	Fetal Lung	lung
8	chr5:43997600-43998600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr5:43997600-43998800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr5:43997600-43999000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:43997800-43998000	Enhancers	Aorta	Aorta
12	chr5:43997800-43998000	Enhancers	Stomach Smooth Muscle	stomach
13	chr5:43997800-43998000	Enhancers	HepG2	liver
14	chr5:43997800-43998200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:43997800-43998200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:43997800-43998200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:43997800-43998200	Enhancers	Colon Smooth Muscle	Colon
18	chr5:43997800-43998400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:43997800-43998400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:43997800-43998400	Enhancers	Fetal Stomach	stomach
21	chr5:43997800-43998400	Enhancers	Stomach Mucosa	stomach
22	chr5:43997800-43998400	Flanking Active TSS	Hela-S3	cervix
23	chr5:43997800-43998800	Enhancers	Adipose Nuclei	Adipose

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