Variant report

Variant	rs2898989
Chromosome Location	chr4:54680879-54680880
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13124199	0.87[EUR][1000 genomes]
rs2133333	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4241977	0.84[EUR][1000 genomes]
rs4864829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9312646	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9686060	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879016	chr4:54638218-54710952	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
2	esv19126	chr4:54653249-54709054	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv1014792	chr4:54655382-54768963	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv537095	chr4:54655382-54768963	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv879017	chr4:54656948-54784205	Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2898989	KDR	cis	parietal	SCAN
rs2898989	SGCB	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54677000-54681200	Weak transcription	Fetal Stomach	stomach
2	chr4:54677000-54681400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:54680200-54681000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:54680200-54685000	Enhancers	Fetal Lung	lung
5	chr4:54680600-54682400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr4:54680600-54682800	Weak transcription	NHDF-Ad	bronchial
7	chr4:54680800-54681200	Weak transcription	NHLF	lung

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Input of quick search could be:

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

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