Variant report

Variant	rs62116484
Chromosome Location	chr2:12150922-12150923
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:12149476..12151758-chr2:12152643..12155527,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12472165	0.82[EUR][1000 genomes]
rs13012119	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13025618	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16858133	0.90[EUR][1000 genomes]
rs34424904	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34774368	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35951700	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62113775	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62113776	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs71446446	0.92[AMR][1000 genomes];0.91[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	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:12146400-12151000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:12146600-12153600	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr2:12147400-12154000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:12147800-12153800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:12148200-12152000	Enhancers	HSMM	muscle
6	chr2:12148800-12151200	Enhancers	HSMMtube	muscle
7	chr2:12148800-12151400	Flanking Active TSS	GM12878-XiMat	blood
8	chr2:12149200-12154000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:12149400-12151400	Enhancers	Liver	Liver
10	chr2:12149400-12153200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr2:12149800-12154200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:12150000-12153800	Weak transcription	NHDF-Ad	bronchial
13	chr2:12150000-12154000	Weak transcription	K562	blood
14	chr2:12150000-12154000	Weak transcription	Osteobl	bone
15	chr2:12150200-12153800	Weak transcription	NHLF	lung
16	chr2:12150400-12153800	Weak transcription	Primary B cells from peripheral blood	blood
17	chr2:12150400-12153800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:12150400-12154000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr2:12150600-12151200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:12150800-12151000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:12150800-12151000	Enhancers	HMEC	breast
22	chr2:12150800-12151600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:12150800-12151600	Enhancers	NHEK	skin
24	chr2:12150800-12151800	Enhancers	Fetal Muscle Leg	muscle
25	chr2:12150800-12153800	Weak transcription	Muscle Satellite Cultured Cells	--

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