Variant report

Variant	rs62137262
Chromosome Location	chr2:39850495-39850496
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	chr2:39843949..39847114-chr2:39849230..39851562,4	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs56284069	1.00[AMR][1000 genomes]
rs62136499	1.00[AMR][1000 genomes]
rs62136542	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	nsv833858	chr2:39684483-39856498	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv873889	chr2:39830183-39950482	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv833870	chr2:39837022-40026024	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39843200-39852800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:39843400-39852800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:39844800-39852000	Enhancers	Fetal Lung	lung
4	chr2:39846400-39852600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:39847600-39858400	Weak transcription	Left Ventricle	heart
6	chr2:39847800-39851000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:39847800-39851000	Weak transcription	Brain Anterior Caudate	brain
8	chr2:39847800-39851200	Weak transcription	Right Atrium	heart
9	chr2:39847800-39851400	Weak transcription	Fetal Heart	heart
10	chr2:39847800-39852200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr2:39847800-39852400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:39847800-39852600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:39847800-39852600	Weak transcription	Hela-S3	cervix
14	chr2:39847800-39852800	Weak transcription	HMEC	breast
15	chr2:39848000-39850800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr2:39848000-39852600	Weak transcription	NH-A	brain
17	chr2:39848000-39857000	Weak transcription	HSMM	muscle
18	chr2:39848000-39858600	Weak transcription	NHEK	skin
19	chr2:39848000-39860000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:39848200-39852200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:39848200-39852800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr2:39848200-39852800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr2:39848200-39852800	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr2:39848600-39851600	Enhancers	Fetal Stomach	stomach
25	chr2:39848800-39852400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:39849400-39852600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:39849800-39850800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:39850200-39851600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr2:39850200-39851800	Enhancers	Adipose Nuclei	Adipose

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