Variant report

Variant	rs830309
Chromosome Location	chr1:217269158-217269159
allele	C/T
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]
rs830314	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	nsv549205	chr1:217165548-217270219	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:217264000-217271800	Weak transcription	Pancreas	Pancrea
2	chr1:217264400-217270800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr1:217265000-217269800	Weak transcription	Psoas Muscle	Psoas
4	chr1:217265200-217269600	Weak transcription	Fetal Muscle Leg	muscle
5	chr1:217265600-217269600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:217266200-217269800	Weak transcription	Right Ventricle	heart
7	chr1:217266200-217271200	Weak transcription	Fetal Heart	heart
8	chr1:217266200-217271400	Weak transcription	Fetal Intestine Small	intestine
9	chr1:217266200-217271800	Weak transcription	Fetal Intestine Large	intestine
10	chr1:217269000-217269800	Enhancers	Skeletal Muscle Female	skeletal muscle

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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