Variant report

Variant	rs2424408
Chromosome Location	chr20:21924173-21924174
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:11)

rs_ID	r²[population]
rs1535203	0.83[EUR][1000 genomes]
rs201546	0.98[EUR][1000 genomes]
rs2224260	0.81[EUR][1000 genomes]
rs2224367	0.81[EUR][1000 genomes]
rs2328640	0.81[EUR][1000 genomes]
rs2424420	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2424422	0.98[EUR][1000 genomes]
rs6047654	0.81[EUR][1000 genomes]
rs6047657	0.81[EUR][1000 genomes]
rs6047741	0.82[EUR][1000 genomes]
rs7263348	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058137	chr20:21549350-22295051	Weak transcription Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv912814	chr20:21703615-21946928	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv912815	chr20:21884693-21953649	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
4	nsv585715	chr20:21906780-21951847	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
5	nsv585716	chr20:21906780-21967950	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv585717	chr20:21917393-21949593	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region lncRNA	1 gene(s)	inside rSNPs	n/a
7	nsv458947	chr20:21917393-21961410	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
8	nsv585718	chr20:21917393-21961410	Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:21922200-21924600	Enhancers	Colon Smooth Muscle	Colon
2	chr20:21923800-21924400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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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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