Variant report

Variant	rs12714110
Chromosome Location	chr2:21812907-21812908
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17042603	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs55837078	1.00[AMR][1000 genomes]
rs57105491	0.94[ASN][1000 genomes]
rs6707232	1.00[ASN][1000 genomes]
rs73921237	0.85[AMR][1000 genomes]
rs73921253	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs73921254	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7585644	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011486	chr2:21475803-22364002	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv535602	chr2:21475803-22364002	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv3406784	chr2:21805088-22160765	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21811800-21813800	Enhancers	Brain Germinal Matrix	brain
2	chr2:21812000-21813600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr2:21812400-21813600	Enhancers	Fetal Brain Male	brain
4	chr2:21812600-21815400	Enhancers	Fetal Lung	lung
5	chr2:21812800-21813000	Flanking Active TSS	Fetal Brain Female	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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