Variant report

Variant	rs72924526
Chromosome Location	chr2:56116595-56116596
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:56109102..56111149-chr2:56116391..56119036,2	K562	blood:
2	chr2:56110918..56113507-chr2:56115471..56117431,2	K562	blood:
3	chr2:56114693..56117341-chr2:56117578..56120415,2	K562	blood:
4	chr2:56115118..56117380-chr2:56124971..56126764,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs3791665	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3791668	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3828241	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60421193	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61185054	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72924527	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56109800-56120000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr2:56110000-56117200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:56110200-56116600	Enhancers	NH-A	brain
4	chr2:56110400-56116600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr2:56110400-56116600	Enhancers	NHLF	lung
6	chr2:56110400-56116800	Enhancers	NHDF-Ad	bronchial
7	chr2:56112200-56116600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:56112200-56116600	Enhancers	HMEC	breast
9	chr2:56113600-56116600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:56114000-56116600	Enhancers	Adipose Nuclei	Adipose
11	chr2:56114400-56116600	Enhancers	Brain Hippocampus Middle	brain
12	chr2:56114800-56116600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr2:56115400-56118800	Weak transcription	Fetal Lung	lung
14	chr2:56115400-56120000	Enhancers	Hela-S3	cervix
15	chr2:56115400-56125800	Weak transcription	HSMMtube	muscle
16	chr2:56115400-56128800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:56115800-56116600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:56115800-56116600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:56116000-56116600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:56116000-56116600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr2:56116000-56116800	Transcr. at gene 5' and 3'	HUVEC	blood vessel
22	chr2:56116000-56117200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:56116200-56116600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:56116200-56118600	Enhancers	Osteobl	bone
25	chr2:56116200-56119400	Weak transcription	Aorta	Aorta
26	chr2:56116200-56119400	Enhancers	NHEK	skin
27	chr2:56116400-56116600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:56116400-56116600	Enhancers	A549	lung
29	chr2:56116400-56117000	Strong transcription	HSMM	muscle
30	chr2:56116400-56118800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:56116400-56125800	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr2:56116400-56128600	Weak transcription	Ovary	ovary
33	chr2:56116400-56128800	Weak transcription	Placenta	Placenta
34	chr2:56116400-56128800	Weak transcription	Pancreas	Pancrea
35	chr2:56116400-56144400	Weak transcription	Lung	lung

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