Variant report

Variant	rs73033548
Chromosome Location	chr2:187573686-187573687
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs56940720	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60628990	1.00[AMR][1000 genomes]
rs61396080	1.00[AMR][1000 genomes]
rs61764172	1.00[AMR][1000 genomes]
rs61764180	1.00[AMR][1000 genomes]
rs61764185	1.00[AMR][1000 genomes]
rs73033523	1.00[AMR][1000 genomes]
rs73033526	1.00[AMR][1000 genomes]
rs73033530	1.00[AMR][1000 genomes]
rs73033534	1.00[AMR][1000 genomes]
rs73033537	1.00[AMR][1000 genomes]
rs73033547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73033561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73035684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73035691	0.95[AFR][1000 genomes];1.00[AMR][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	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187560400-187579400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:187560600-187575400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:187560600-187582200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:187560600-187584200	Weak transcription	Fetal Lung	lung
5	chr2:187561400-187577800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:187567000-187574800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr2:187567400-187581400	Weak transcription	Fetal Brain Female	brain
8	chr2:187570200-187578400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:187570600-187577600	Weak transcription	Brain Hippocampus Middle	brain
10	chr2:187570600-187578800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:187571000-187577000	Weak transcription	Brain Substantia Nigra	brain
12	chr2:187571200-187574400	Weak transcription	Fetal Brain Male	brain
13	chr2:187571200-187577600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr2:187572400-187575000	Weak transcription	Brain Angular Gyrus	brain
15	chr2:187572400-187575000	Weak transcription	Brain Anterior Caudate	brain
16	chr2:187572400-187577000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr2:187573000-187578800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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