Variant report

Variant	rs6137527
Chromosome Location	chr20:22043921-22043922
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1160312	0.86[ASN][1000 genomes]
rs1887056	0.88[ASN][1000 genomes]
rs201585	0.88[EUR][1000 genomes]
rs201594	0.81[ASN][1000 genomes]
rs2876631	0.81[ASN][1000 genomes]
rs4813446	0.88[ASN][1000 genomes]
rs4815090	0.81[EUR][1000 genomes]
rs6036026	0.88[ASN][1000 genomes]
rs6036027	0.88[ASN][1000 genomes]
rs6036029	0.88[ASN][1000 genomes]
rs6047844	0.81[ASN][1000 genomes]
rs6113483	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6113495	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6113496	0.88[ASN][1000 genomes]
rs6132477	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs913063	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv432114	chr20:22012900-22148200	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1064957	chr20:22042418-22148798	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv1057093	chr20:22042418-22154100	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv1056616	chr20:22042418-22154935	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6137527	PLK1S1	cis	cerebellum	SCAN
rs6137527	OVOL2	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22039200-22044000	Enhancers	Primary T cells from cord blood	blood
2	chr20:22043200-22044400	Enhancers	Dnd41	blood
3	chr20:22043600-22044000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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