Variant report

Variant	rs1211717
Chromosome Location	chr2:189741678-189741679
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1201147	1.00[AMR][1000 genomes]
rs1201148	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1201149	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1518007	0.89[AFR][1000 genomes]
rs1607318	0.83[AFR][1000 genomes]
rs1882678	0.92[AFR][1000 genomes]
rs2675403	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2708211	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2708212	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2708213	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6759257	0.89[AFR][1000 genomes]
rs781235	0.89[AFR][1000 genomes]
rs781274	0.86[AFR][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	nsv1003974	chr2:189331760-189827814	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1008847	chr2:189603961-189769705	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv997454	chr2:189615728-189770133	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1002175	chr2:189615728-189776301	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv834490	chr2:189703550-189840963	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr2:189737200-189743200	Weak transcription	Fetal Lung	lung
2	chr2:189739000-189755600	Weak transcription	Aorta	Aorta

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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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