Variant report

Variant	rs1227993
Chromosome Location	chr6:165322093-165322094
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1227992	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1322188	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58801628	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6455971	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6455973	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6455974	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6901342	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6934301	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs911723	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9365813	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9365818	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv605232	chr6:164994771-165401154	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv521153	chr6:165279393-165343557	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv605244	chr6:165293940-165330551	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
4	nsv886925	chr6:165319631-165705488	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:165321000-165325800	Weak transcription	Fetal Brain Female	brain
2	chr6:165321400-165326000	Weak transcription	Fetal Brain Male	brain

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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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