Variant report

Variant	rs72924519
Chromosome Location	chr2:56102923-56102924
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17047273	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17047275	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17047297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2903836	1.00[AMR][1000 genomes]
rs6715632	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6715773	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6747198	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6752961	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72922491	1.00[EUR][1000 genomes]
rs72922494	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7560742	1.00[AMR][1000 genomes];1.00[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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56089200-56112200	Weak transcription	Pancreas	Pancrea
2	chr2:56090000-56107600	Weak transcription	Fetal Stomach	stomach
3	chr2:56090200-56107400	Weak transcription	Fetal Lung	lung
4	chr2:56092400-56111600	Genic enhancers	HUVEC	blood vessel
5	chr2:56092800-56107800	Weak transcription	Brain Anterior Caudate	brain
6	chr2:56092800-56112400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr2:56092800-56114400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:56093800-56109000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:56094800-56116200	Weak transcription	Spleen	Spleen
10	chr2:56095600-56109600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:56096000-56106000	Weak transcription	Ovary	ovary
12	chr2:56097000-56108800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:56098000-56107600	Weak transcription	Lung	lung
14	chr2:56098600-56107000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr2:56101000-56106800	Weak transcription	Fetal Kidney	kidney
16	chr2:56101000-56107600	Weak transcription	Gastric	stomach
17	chr2:56101200-56105800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:56101200-56106000	Genic enhancers	Osteobl	bone
19	chr2:56102000-56103400	Genic enhancers	NHLF	lung
20	chr2:56102000-56105000	Enhancers	NHDF-Ad	bronchial
21	chr2:56102600-56103000	Enhancers	HSMMtube	muscle
22	chr2:56102600-56103400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:56102600-56103400	Enhancers	Liver	Liver
24	chr2:56102600-56103400	Enhancers	A549	lung
25	chr2:56102600-56103600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:56102600-56103600	Strong transcription	HMEC	breast
27	chr2:56102600-56103800	Genic enhancers	HSMM	muscle
28	chr2:56102600-56103800	Strong transcription	NHEK	skin
29	chr2:56102600-56104600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:56102600-56105600	Enhancers	Hela-S3	cervix
31	chr2:56102800-56103000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:56102800-56103000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:56102800-56103200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr2:56102800-56103200	Enhancers	Right Atrium	heart
35	chr2:56102800-56103200	Flanking Active TSS	NH-A	brain
36	chr2:56102800-56103400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:56102800-56103600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:56102800-56103600	Genic enhancers	Adipose Nuclei	Adipose
39	chr2:56102800-56104000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:56102800-56105000	Enhancers	Aorta	Aorta

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