Variant report

Variant	rs36000595
Chromosome Location	chr12:49196827-49196828
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11168749	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168751	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12369114	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12369130	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12814893	1.00[ASN][1000 genomes]
rs2453467	1.00[ASN][1000 genomes]
rs34014405	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3730308	1.00[ASN][1000 genomes]
rs55638074	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55916159	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv826363	chr12:49177227-49250989	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs36000595	CACNB3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49184200-49198800	Weak transcription	NHLF	lung
2	chr12:49190000-49197400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:49190000-49197400	Weak transcription	A549	lung
4	chr12:49190400-49204000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr12:49191000-49198600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:49195200-49204200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:49196000-49204000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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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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