Variant report

Variant	rs73939827
Chromosome Location	chr2:55651717-55651718
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	chr2:55651546..55653549-chr2:55657687..55659327,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11898619	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11898783	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11904203	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11904238	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17046915	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56020076	0.94[AFR][1000 genomes]
rs56214821	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6710144	0.84[AFR][1000 genomes]
rs6718645	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6739731	0.80[AFR][1000 genomes]
rs6759310	0.81[EUR][1000 genomes]
rs73938301	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73939645	0.88[AFR][1000 genomes]
rs73939646	0.90[AFR][1000 genomes]
rs73939825	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7564072	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7578788	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006170	chr2:55530179-55809251	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv520581	chr2:55622825-55903016	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55647800-55652400	Weak transcription	Stomach Mucosa	stomach
2	chr2:55648000-55652200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:55648000-55652200	Weak transcription	HUVEC	blood vessel
4	chr2:55648000-55652200	Weak transcription	NH-A	brain
5	chr2:55648000-55652400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:55648000-55652400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:55648000-55652400	Weak transcription	HSMM	muscle
8	chr2:55648000-55653400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr2:55648000-55659000	Weak transcription	Adipose Nuclei	Adipose
10	chr2:55648200-55652200	Weak transcription	Osteobl	bone
11	chr2:55648400-55651800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:55648400-55652400	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr2:55648400-55652400	Enhancers	A549	lung
14	chr2:55648400-55652400	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr2:55649400-55652200	Enhancers	Hela-S3	cervix
16	chr2:55649600-55653000	Enhancers	HepG2	liver
17	chr2:55650000-55652400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr2:55650000-55653400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:55650000-55659000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:55650200-55652400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:55650400-55652400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:55650600-55651800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:55650800-55651800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:55651000-55652400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr2:55651000-55653400	Enhancers	HMEC	breast
26	chr2:55651200-55651800	Enhancers	K562	blood
27	chr2:55651200-55653400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:55651200-55653400	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr2:55651600-55652000	Weak transcription	NHDF-Ad	bronchial
30	chr2:55651600-55652000	Weak transcription	NHLF	lung
31	chr2:55651600-55653400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:55651600-55653400	Enhancers	NHEK	skin

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