Variant report

Variant	rs1146365
Chromosome Location	chr20:22608678-22608679
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1007202	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1007458	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1203920	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1203921	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1203925	0.83[CEU][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1203927	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1203928	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1203929	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1203930	0.83[CEU][hapmap];0.86[GIH][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1203931	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1203932	0.83[CEU][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1203933	0.83[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1203934	0.83[CEU][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1203935	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1203936	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1203937	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1203938	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1203939	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1203940	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1203941	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1203942	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1203943	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1203944	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1203945	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1203946	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1203947	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1203948	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1203949	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1203950	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12479757	0.97[ASN][1000 genomes]
rs1884742	0.87[EUR][1000 genomes]
rs2180553	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2224316	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2424436	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2424442	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2424443	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2424444	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2424446	0.81[ASN][1000 genomes]
rs2424450	0.81[ASN][1000 genomes]
rs4815129	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4815130	0.82[ASN][1000 genomes]
rs6075931	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6082762	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6082765	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6137712	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs747911	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs747912	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs754855	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs910956	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs910957	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs910960	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs995734	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428690	chr20:22528757-22649625	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1064571	chr20:22601105-22645251	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1146365	CST8	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22603800-22611200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr20:22607200-22610400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr20:22607200-22610400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr20:22607400-22610200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr20:22607400-22611200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr20:22608000-22610000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr20:22608600-22609400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr20:22608600-22609400	Enhancers	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links