Variant report

Variant	rs56268747
Chromosome Location	chr2:56136691-56136692
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	chr2:56125602..56128230-chr2:56135592..56138446,2	K562	blood:
2	chr2:56124048..56126966-chr2:56136585..56138996,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10167115	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10201208	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10469935	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13429887	0.95[EUR][1000 genomes]
rs14282	0.95[EUR][1000 genomes]
rs28370328	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28371015	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55886642	0.95[EUR][1000 genomes]
rs56210563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6707184	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6718023	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6736923	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6737397	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6748550	0.90[EUR][1000 genomes]
rs72811703	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72811704	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72811714	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72811719	0.95[EUR][1000 genomes]
rs7562440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][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	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 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	chr2:56116400-56144400	Weak transcription	Lung	lung
2	chr2:56129000-56144200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:56129000-56144400	Weak transcription	HSMMtube	muscle
4	chr2:56129200-56138400	Weak transcription	HMEC	breast
5	chr2:56129200-56142400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr2:56129200-56150200	Weak transcription	Pancreas	Pancrea
7	chr2:56129400-56143000	Weak transcription	NHLF	lung
8	chr2:56130200-56137000	Weak transcription	NH-A	brain
9	chr2:56132000-56149000	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:56133800-56140800	Strong transcription	HSMM	muscle
11	chr2:56134800-56137400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:56135000-56138000	Strong transcription	Osteobl	bone
13	chr2:56135200-56138800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:56135200-56142000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:56135200-56143600	Weak transcription	Adipose Nuclei	Adipose
16	chr2:56135200-56146600	Weak transcription	Brain Anterior Caudate	brain
17	chr2:56135400-56141000	Weak transcription	Aorta	Aorta
18	chr2:56135600-56140000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:56135600-56143000	Weak transcription	NHEK	skin
20	chr2:56136400-56136800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:56136400-56136800	Enhancers	Ovary	ovary
22	chr2:56136400-56137000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:56136400-56137200	Transcr. at gene 5' and 3'	HUVEC	blood vessel
24	chr2:56136400-56137800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr2:56136400-56139000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:56136600-56145800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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