Variant report

Variant	rs12369130
Chromosome Location	chr12:49203805-49203806
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11168749	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11168751	0.91[EUR][1000 genomes]
rs12369114	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34014405	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs36000595	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55638074	0.81[AMR][1000 genomes]
rs55916159	0.87[AMR][1000 genomes];0.91[EUR][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
rs12369130	CACNB3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49190400-49204000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr12:49195200-49204200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:49196000-49204000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:49198000-49204400	Weak transcription	Lung	lung
5	chr12:49199000-49204400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:49199400-49204000	Weak transcription	Fetal Intestine Small	intestine
7	chr12:49201200-49207600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:49201400-49204000	Weak transcription	HepG2	liver
9	chr12:49201600-49207600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:49201800-49204400	Weak transcription	NH-A	brain
11	chr12:49202600-49204000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:49202800-49204200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:49203000-49204000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:49203000-49204600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:49203600-49207600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr12:49203800-49204400	Enhancers	NHLF	lung
17	chr12:49203800-49205600	Enhancers	Fetal Kidney	kidney
18	chr12:49203800-49205800	Enhancers	Stomach Smooth Muscle	stomach

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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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