Variant report

Variant	rs2389487
Chromosome Location	chr4:118940052-118940053
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10009799	0.81[AFR][1000 genomes]
rs11098419	0.85[ASN][1000 genomes]
rs11098420	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs12500555	0.82[AFR][1000 genomes]
rs1994386	0.85[AFR][1000 genomes]
rs1994387	0.85[AFR][1000 genomes]
rs2254204	0.82[CHB][hapmap];0.88[JPT][hapmap]
rs2254215	0.82[CHB][hapmap];0.82[GIH][hapmap];0.90[JPT][hapmap]
rs2254218	0.82[CHB][hapmap];0.82[GIH][hapmap];0.90[JPT][hapmap]
rs2389486	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2389488	0.85[AFR][1000 genomes]
rs2389489	0.85[AFR][1000 genomes]
rs4403117	1.00[ASN][1000 genomes]
rs6534078	0.82[CHB][hapmap];0.82[GIH][hapmap];0.90[JPT][hapmap]
rs6848541	0.84[AFR][1000 genomes]
rs7687673	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs9997797	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482390	chr4:118804378-118944823	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
2	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv3432387	chr4:118936804-118940202	Enhancers	n/a	n/a	inside rSNPs	n/a
4	esv3430759	chr4:118937354-118940052	Enhancers	n/a	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:118939200-118940400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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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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