Variant report

Variant	rs6127049
Chromosome Location	chr20:52616373-52616374
allele	C/T
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:19)

rs_ID	r²[population]
rs2276498	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2276499	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6091803	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6123336	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6123337	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6123338	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6123339	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6127051	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6127053	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6127054	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6127055	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs66737174	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs66752610	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs66896772	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs66913293	0.94[ASN][1000 genomes]
rs66935272	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs67369019	0.93[AFR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67617961	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs68120080	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34060	chr20:52251863-52702186	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	296 gene(s)	inside rSNPs	diseases
2	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52566400-52644800	Weak transcription	Gastric	stomach
2	chr20:52601800-52630800	Weak transcription	Stomach Mucosa	stomach
3	chr20:52604400-52618200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr20:52612600-52618600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr20:52614400-52616600	Weak transcription	Brain Hippocampus Middle	brain
6	chr20:52614400-52623400	Weak transcription	Brain Angular Gyrus	brain
7	chr20:52615800-52617200	Enhancers	HSMMtube	muscle

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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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