Variant report

Variant	rs12463603
Chromosome Location	chr2:63798198-63798199
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1109027	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12470478	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12472865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12476015	0.82[EUR][1000 genomes]
rs17618045	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17619012	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2054120	0.82[EUR][1000 genomes]
rs2278718	0.80[EUR][1000 genomes]
rs4671062	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72806010	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72806027	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72806056	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72821631	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72821632	0.80[AMR][1000 genomes];0.82[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	esv1800788	chr2:63473443-63900292	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12463603	GNAO1	trans	lymphoblastoid	RTeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63777400-63806800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:63780200-63814800	Weak transcription	Psoas Muscle	Psoas
3	chr2:63781000-63804000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:63783400-63798600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:63789000-63808200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:63789000-63808200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr2:63790600-63803000	Weak transcription	Fetal Heart	heart
8	chr2:63791800-63798800	Weak transcription	Adipose Nuclei	Adipose
9	chr2:63794000-63799000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:63795000-63805600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:63796600-63798800	Enhancers	GM12878-XiMat	blood
12	chr2:63797000-63798600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr2:63797000-63805400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:63797400-63798600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr2:63798000-63798400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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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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