Variant report

Variant	rs2424500
Chromosome Location	chr20:22988426-22988427
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1211376	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1360405	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1360406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1360407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1360409	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1431678	0.81[AFR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs220986	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs220987	0.82[CHB][hapmap]
rs2258208	0.81[AFR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2424498	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424499	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424501	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424502	0.84[CHB][hapmap];0.84[CHD][hapmap];0.86[ASN][1000 genomes]
rs4815170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58357425	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61056253	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6106592	0.86[ASN][1000 genomes]
rs73608985	0.82[ASN][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	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22986600-22988600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr20:22986800-22990200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr20:22988200-22988600	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr20:22988200-22988800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr20:22988200-22989000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr20:22988200-22989000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr20:22988200-22990200	Enhancers	A549	lung
8	chr20:22988400-22989000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr20:22988400-22989200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr20:22988400-22990200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr20:22988400-22993400	Weak transcription	Aorta	Aorta
12	chr20:22988400-22995600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	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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