Variant report

Variant	rs830307
Chromosome Location	chr1:217270667-217270668
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11117772	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1166348	0.95[ASN][1000 genomes]
rs1166354	0.89[ASN][1000 genomes]
rs12034683	0.92[ASN][1000 genomes]
rs1890550	0.95[CHB][hapmap];0.92[CHD][hapmap];0.83[JPT][hapmap];0.90[ASN][1000 genomes]
rs3851301	0.89[CHB][hapmap];0.82[ASN][1000 genomes]
rs72743303	0.84[ASN][1000 genomes]
rs7514298	0.95[CHB][hapmap];0.83[JPT][hapmap];0.90[ASN][1000 genomes]
rs7532682	0.95[CHB][hapmap];0.95[CHD][hapmap];0.83[JPT][hapmap];0.90[ASN][1000 genomes]
rs830318	0.88[ASN][1000 genomes]
rs987445	1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.97[ASN][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:8 , 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	chr1:217266200-217271200	Weak transcription	Fetal Heart	heart
4	chr1:217266200-217271400	Weak transcription	Fetal Intestine Small	intestine
5	chr1:217266200-217271800	Weak transcription	Fetal Intestine Large	intestine
6	chr1:217270400-217271400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:217270600-217272200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr1:217270600-217278200	Weak transcription	Fetal Muscle Leg	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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