Variant report

Variant	rs987990
Chromosome Location	chr2:39785624-39785625
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10194434	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10195027	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1023591	0.84[AFR][1000 genomes]
rs10865155	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1474424	0.81[ASW][hapmap];1.00[MEX][hapmap]
rs1526026	0.81[AFR][1000 genomes]
rs2056656	0.86[YRI][hapmap]
rs4670934	0.91[ASW][hapmap];1.00[MEX][hapmap]
rs6544223	0.91[ASW][hapmap];1.00[MEX][hapmap]
rs7573067	0.85[AFR][1000 genomes]
rs7574785	1.00[MEX][hapmap]
rs7582160	0.91[ASW][hapmap];1.00[MEX][hapmap]
rs987991	0.88[AFR][1000 genomes];1.00[AMR][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	nsv833858	chr2:39684483-39856498	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39770800-39789600	Weak transcription	Left Ventricle	heart
2	chr2:39778000-39788000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:39778400-39791800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:39778800-39797400	Weak transcription	Fetal Heart	heart
5	chr2:39783200-39786600	Strong transcription	HepG2	liver

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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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