Variant report

Variant	rs34424904
Chromosome Location	chr2:12149445-12149446
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12472165	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12478633	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12478664	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12478705	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13012119	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13025618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16858133	0.99[EUR][1000 genomes]
rs34774368	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35951700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs41378155	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62113775	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62113776	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62116484	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71446446	0.97[AMR][1000 genomes];0.99[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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:12145000-12149800	Enhancers	Primary B cells from peripheral blood	blood
2	chr2:12146400-12151000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:12146600-12153600	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr2:12146800-12150800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:12147400-12150000	Weak transcription	Fetal Lung	lung
6	chr2:12147400-12150800	Weak transcription	Fetal Muscle Leg	muscle
7	chr2:12147400-12154000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:12147600-12150800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:12147800-12153800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr2:12148000-12150200	Enhancers	NHLF	lung
11	chr2:12148200-12150400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:12148200-12152000	Enhancers	HSMM	muscle
13	chr2:12148600-12150000	Enhancers	NHDF-Ad	bronchial
14	chr2:12148600-12150000	Enhancers	Osteobl	bone
15	chr2:12148600-12150400	Enhancers	Primary hematopoietic stem cells	blood
16	chr2:12148600-12150400	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr2:12148600-12150800	Enhancers	Muscle Satellite Cultured Cells	--
18	chr2:12148800-12149600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:12148800-12149800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:12148800-12150000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:12148800-12150000	Enhancers	K562	blood
22	chr2:12148800-12151200	Enhancers	HSMMtube	muscle
23	chr2:12148800-12151400	Flanking Active TSS	GM12878-XiMat	blood
24	chr2:12149000-12150400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:12149000-12150800	Weak transcription	NHEK	skin
26	chr2:12149200-12149800	Weak transcription	NH-A	brain
27	chr2:12149200-12150600	Weak transcription	HMEC	breast
28	chr2:12149200-12154000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:12149400-12149600	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr2:12149400-12151400	Enhancers	Liver	Liver
31	chr2:12149400-12153200	Weak transcription	Monocytes-CD14+_RO01746	blood

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