Variant report

Variant	rs12034683
Chromosome Location	chr1:217270475-217270476
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11117772	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1166348	0.88[ASN][1000 genomes]
rs1166354	0.82[ASN][1000 genomes]
rs12033461	0.85[AFR][1000 genomes]
rs1890550	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35118047	0.91[AFR][1000 genomes]
rs3851301	0.94[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs72743303	0.94[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7514298	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7532682	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs830307	0.92[ASN][1000 genomes]
rs830318	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs987445	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[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	chr1:217269600-217270600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:217270400-217270600	Enhancers	Fetal Muscle Leg	muscle
8	chr1:217270400-217271400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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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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