Variant report

Variant	rs830314
Chromosome Location	chr1:217271500-217271501
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1166352	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1166353	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1339220	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2489773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs830304	0.87[AFR][1000 genomes]
rs830309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs830315	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs830319	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs946435	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs946436	0.97[AFR][1000 genomes];1.00[AMR][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	nsv428610	chr1:217143317-217307243	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv3326106	chr1:217270420-217271648	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:217264000-217271800	Weak transcription	Pancreas	Pancrea
2	chr1:217266200-217271800	Weak transcription	Fetal Intestine Large	intestine
3	chr1:217270600-217272200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:217270600-217278200	Weak transcription	Fetal Muscle Leg	muscle
5	chr1:217271400-217271600	Enhancers	Fetal Heart	heart
6	chr1:217271400-217272000	Enhancers	Sigmoid Colon	Sigmoid Colon

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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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