Variant report

Variant	rs2122875
Chromosome Location	chr2:187750377-187750378
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs41404244	0.80[AFR][1000 genomes]
rs58606847	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs67477382	0.80[AFR][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	nsv428069	chr2:187575692-187766209	ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv949700	chr2:187713412-188361211	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187747200-187752400	Enhancers	HUVEC	blood vessel
2	chr2:187748200-187753000	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr2:187748200-187753800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:187748600-187751000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:187749600-187750800	Weak transcription	Adipose Nuclei	Adipose
6	chr2:187749600-187753800	Enhancers	Primary hematopoietic stem cells	blood
7	chr2:187750200-187750600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:187750200-187751000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:187750200-187751800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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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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