Variant report

Variant	rs2192693
Chromosome Location	chr2:58953831-58953832
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1030020	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11679573	0.84[EUR][1000 genomes]
rs72802106	1.00[AMR][1000 genomes]
rs72802114	1.00[AMR][1000 genomes]
rs72815812	0.84[EUR][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	nsv431180	chr2:58857542-59178687	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv9891	chr2:58951097-58953857	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58941200-58954600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:58948400-58955200	Weak transcription	K562	blood
3	chr2:58948400-58960000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr2:58953200-58954200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:58953600-58958000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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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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