Variant report

Variant	rs12966301
Chromosome Location	chr18:24591905-24591906
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:24590450..24592639-chr18:24595397..24598206,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10502482	0.99[ASN][1000 genomes]
rs12953982	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12954200	0.88[ASN][1000 genomes]
rs12963112	0.86[ASN][1000 genomes]
rs12965711	0.87[ASN][1000 genomes]
rs12966203	0.99[ASN][1000 genomes]
rs12967710	0.80[ASN][1000 genomes]
rs1436902	0.96[ASN][1000 genomes]
rs1436906	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16943045	0.83[CHB][hapmap];0.80[CHD][hapmap];0.82[GIH][hapmap];0.90[JPT][hapmap];0.91[TSI][hapmap]
rs16943049	0.83[CHB][hapmap];0.80[CHD][hapmap];0.90[JPT][hapmap]
rs16943089	0.91[ASN][1000 genomes]
rs16943144	0.99[ASN][1000 genomes]
rs16943156	0.99[ASN][1000 genomes]
rs16943160	0.99[ASN][1000 genomes]
rs16943161	0.99[ASN][1000 genomes]
rs16943164	0.99[ASN][1000 genomes]
rs16943175	1.00[ASN][1000 genomes]
rs16943178	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16943184	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16960687	0.99[ASN][1000 genomes]
rs1821789	0.91[ASN][1000 genomes]
rs1941113	0.99[ASN][1000 genomes]
rs28564652	0.91[ASN][1000 genomes]
rs28647464	0.87[ASN][1000 genomes]
rs34738073	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35443853	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35507377	0.89[ASN][1000 genomes]
rs35725335	0.80[ASN][1000 genomes]
rs3893013	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs4800274	0.90[ASN][1000 genomes]
rs4800782	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56218423	0.91[ASN][1000 genomes]
rs60742277	0.91[ASN][1000 genomes]
rs60856601	0.91[ASN][1000 genomes]
rs6508462	0.91[ASN][1000 genomes]
rs71353424	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs717284	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7229046	0.91[ASN][1000 genomes]
rs7234761	0.99[ASN][1000 genomes]
rs7236637	0.91[ASN][1000 genomes]
rs8087494	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833600	chr18:24473894-24681019	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv909472	chr18:24479960-24614192	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1067103	chr18:24524011-24760469	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv543668	chr18:24524011-24760469	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12966301	C18orf16	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:24570400-24598200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr18:24588600-24592600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr18:24589400-24598600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr18:24589600-24598800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr18:24589800-24594600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr18:24591000-24595200	Weak transcription	Pancreas	Pancrea
7	chr18:24591000-24601200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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