Variant report

Variant	rs2216519
Chromosome Location	chr4:106718808-106718809
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2544428	1.00[AFR][1000 genomes]
rs2553444	1.00[AFR][1000 genomes]
rs2866783	0.85[AFR][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	nsv879700	chr4:106643445-106745057	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106692400-106729400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:106695200-106757000	Weak transcription	Primary B cells from cord blood	blood
3	chr4:106697200-106725800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr4:106697800-106723200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:106698000-106725200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:106698200-106719200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:106703200-106755600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr4:106714200-106725800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr4:106717400-106719000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr4:106717800-106729000	Weak transcription	Dnd41	blood
11	chr4:106718800-106719400	Weak transcription	HSMM	muscle

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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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