Variant report

Variant	rs72904112
Chromosome Location	chr2:53357335-53357336
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11890433	1.00[AMR][1000 genomes]
rs55730541	1.00[AMR][1000 genomes]
rs56981147	1.00[AMR][1000 genomes]
rs57585796	1.00[AMR][1000 genomes]
rs57876662	1.00[AMR][1000 genomes]
rs57906377	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59677793	1.00[AMR][1000 genomes]
rs72894110	1.00[AMR][1000 genomes]
rs72900245	1.00[AMR][1000 genomes]
rs72904110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72904114	1.00[AMR][1000 genomes]
rs72904116	1.00[AMR][1000 genomes]
rs72904119	1.00[AMR][1000 genomes]
rs72904121	1.00[AMR][1000 genomes]
rs72906085	1.00[AMR][1000 genomes]
rs72906088	1.00[AMR][1000 genomes]
rs72906094	1.00[AMR][1000 genomes]
rs72906098	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72906100	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72906102	1.00[AMR][1000 genomes]
rs72908103	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72908224	1.00[AMR][1000 genomes]
rs72908242	1.00[AMR][1000 genomes]
rs72908247	1.00[AMR][1000 genomes]
rs72908300	1.00[AMR][1000 genomes]
rs72910203	1.00[AMR][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	nsv520722	chr2:53039770-53421015	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1012463	chr2:53187151-53377118	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
3	nsv1011118	chr2:53328397-53375220	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53338400-53362600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:53354600-53360200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:53356000-53358800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:53356600-53358200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:53356600-53359000	Enhancers	Osteobl	bone
6	chr2:53356600-53359200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:53356600-53359200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:53356600-53359200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:53356600-53359200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:53356600-53359200	Enhancers	Hela-S3	cervix
11	chr2:53356600-53359200	Enhancers	HSMM	muscle
12	chr2:53356600-53359200	Enhancers	HSMMtube	muscle
13	chr2:53356600-53359400	Enhancers	HMEC	breast
14	chr2:53356600-53359400	Enhancers	NHEK	skin
15	chr2:53356800-53357400	Enhancers	Adipose Nuclei	Adipose
16	chr2:53356800-53357600	Enhancers	NHLF	lung
17	chr2:53356800-53357800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:53356800-53357800	Enhancers	Placenta Amnion	Placenta Amnion
19	chr2:53356800-53357800	Enhancers	NH-A	brain
20	chr2:53356800-53359200	Enhancers	NHDF-Ad	bronchial
21	chr2:53356800-53359400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:53357000-53357400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:53357000-53358400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:53357000-53358800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr2:53357000-53359200	Enhancers	Muscle Satellite Cultured Cells	--
26	chr2:53357200-53357400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:53357200-53357400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:53357200-53357800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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