Variant report

Variant	rs1350106
Chromosome Location	chr5:114673479-114673480
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11741985	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11749663	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11955800	0.81[AMR][1000 genomes]
rs13169467	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13179618	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13181560	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17137637	0.93[ASN][1000 genomes]
rs185566	0.92[CHB][hapmap];0.90[JPT][hapmap]
rs2121099	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2416412	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs267286	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs267287	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs267288	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs34536681	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6878783	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6886607	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6894010	0.83[AMR][1000 genomes]
rs7734039	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[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	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1350106	CCDC112	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114672000-114673600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:114672400-114677200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr5:114673000-114674600	Enhancers	Fetal Intestine Small	intestine
4	chr5:114673000-114678400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr5:114673000-114678400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr5:114673200-114673600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:114673200-114673600	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr5:114673200-114673800	Enhancers	Fetal Intestine Large	intestine
9	chr5:114673200-114674200	Enhancers	HepG2	liver
10	chr5:114673400-114674200	Enhancers	Liver	Liver

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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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