Variant report

Variant	rs2424514
Chromosome Location	chr20:23048633-23048634
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1040585	0.91[CEU][hapmap];0.82[JPT][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16984890	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1998081	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1998082	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2144940	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2424504	0.93[AMR][1000 genomes]
rs2424505	0.87[AMR][1000 genomes]
rs2424508	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2424512	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs2424513	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2424515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2567617	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2749812	1.00[CHB][hapmap];0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs7492	0.86[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912816	chr20:22757960-23062927	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2758516	chr20:23029404-23173240	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	esv2758789	chr20:23029404-23179604	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23043400-23063000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:23043600-23053000	Weak transcription	Ovary	ovary
3	chr20:23043600-23054000	Weak transcription	Lung	lung
4	chr20:23043600-23062200	Weak transcription	Placenta	Placenta
5	chr20:23043600-23066600	Weak transcription	Aorta	Aorta
6	chr20:23043800-23055200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr20:23044800-23053000	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr20:23045000-23051800	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr20:23046600-23052600	Weak transcription	Fetal Lung	lung
10	chr20:23047200-23057800	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr20:23047800-23059000	Weak transcription	Right Atrium	heart
12	chr20:23048200-23050600	Weak transcription	Esophagus	oesophagus

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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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