Variant report

Variant	rs72924527
Chromosome Location	chr2:56116800-56116801
allele	A/G
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	0.91[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	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61185054	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72924526	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:34 , 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	chr2:56110400-56116800	Enhancers	NHDF-Ad	bronchial
4	chr2:56115400-56118800	Weak transcription	Fetal Lung	lung
5	chr2:56115400-56120000	Enhancers	Hela-S3	cervix
6	chr2:56115400-56125800	Weak transcription	HSMMtube	muscle
7	chr2:56115400-56128800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:56116000-56116800	Transcr. at gene 5' and 3'	HUVEC	blood vessel
9	chr2:56116000-56117200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:56116200-56118600	Enhancers	Osteobl	bone
11	chr2:56116200-56119400	Weak transcription	Aorta	Aorta
12	chr2:56116200-56119400	Enhancers	NHEK	skin
13	chr2:56116400-56117000	Strong transcription	HSMM	muscle
14	chr2:56116400-56118800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:56116400-56125800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr2:56116400-56128600	Weak transcription	Ovary	ovary
17	chr2:56116400-56128800	Weak transcription	Placenta	Placenta
18	chr2:56116400-56128800	Weak transcription	Pancreas	Pancrea
19	chr2:56116400-56144400	Weak transcription	Lung	lung
20	chr2:56116600-56116800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:56116600-56117200	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr2:56116600-56118600	Weak transcription	A549	lung
23	chr2:56116600-56118800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:56116600-56118800	Weak transcription	NHLF	lung
25	chr2:56116600-56119000	Weak transcription	NH-A	brain
26	chr2:56116600-56119600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:56116600-56120600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:56116600-56121600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:56116600-56128200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr2:56116600-56128200	Weak transcription	HMEC	breast
31	chr2:56116600-56131000	Weak transcription	Adipose Nuclei	Adipose
32	chr2:56116800-56118600	Weak transcription	NHDF-Ad	bronchial
33	chr2:56116800-56118800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:56116800-56119200	Genic enhancers	HUVEC	blood vessel

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