Variant report

Variant	rs2123338
Chromosome Location	chr9:21694039-21694040
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10811582	0.88[CEU][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs10811584	0.86[ASN][1000 genomes]
rs12380505	0.94[CHB][hapmap];0.82[CHD][hapmap];0.83[GIH][hapmap];0.86[JPT][hapmap];0.86[LWK][hapmap];0.91[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1335498	0.85[ASN][1000 genomes]
rs1335499	0.85[ASN][1000 genomes]
rs1335500	0.85[ASN][1000 genomes]
rs1335501	0.84[ASN][1000 genomes]
rs1335505	0.95[JPT][hapmap]
rs1372057	0.95[JPT][hapmap]
rs1372058	0.95[JPT][hapmap]
rs1372059	0.95[JPT][hapmap]
rs1414232	0.85[ASN][1000 genomes]
rs1414233	0.85[ASN][1000 genomes]
rs1414234	0.84[ASN][1000 genomes]
rs1414242	0.95[JPT][hapmap]
rs1414244	0.95[JPT][hapmap]
rs1452658	0.86[ASN][1000 genomes]
rs1542075	0.81[JPT][hapmap]
rs1542076	0.81[JPT][hapmap]
rs1840050	0.86[ASN][1000 genomes]
rs1889680	0.85[ASW][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.91[MEX][hapmap];0.93[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2004627	0.82[ASN][1000 genomes]
rs2165408	0.81[JPT][hapmap]
rs2167691	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2383202	0.85[ASN][1000 genomes]
rs2891159	0.95[JPT][hapmap]
rs2891164	0.84[ASN][1000 genomes]
rs2891165	0.84[ASN][1000 genomes]
rs3928894	0.85[JPT][hapmap]
rs4352937	0.95[JPT][hapmap]
rs4364717	0.81[JPT][hapmap]
rs4428748	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4548267	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs4560881	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4636294	0.85[JPT][hapmap]
rs6475547	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6475548	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6475549	0.86[ASN][1000 genomes]
rs6475550	0.86[ASN][1000 genomes]
rs6475551	0.84[ASN][1000 genomes]
rs6475552	0.86[ASN][1000 genomes]
rs6475585	0.80[CHB][hapmap];0.82[JPT][hapmap]
rs7023474	0.85[JPT][hapmap]
rs7039487	0.85[ASN][1000 genomes]
rs7047136	0.86[ASN][1000 genomes]
rs751173	0.86[ASN][1000 genomes]
rs7848524	0.86[ASN][1000 genomes]
rs7857636	0.86[ASN][1000 genomes]
rs7858959	0.86[ASN][1000 genomes]
rs7867994	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7868091	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs869329	0.81[JPT][hapmap]
rs869330	0.81[JPT][hapmap]
rs871024	0.81[JPT][hapmap]
rs9298821	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9298822	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9298823	0.95[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029634	chr9:21542970-21765286	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv1015623	chr9:21579110-21694039	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
3	nsv892742	chr9:21589041-21707372	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv892743	chr9:21675545-21772064	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv471290	chr9:21694038-21721939	Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv892744	chr9:21694039-21746419	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2123338	MTAP	cis	parietal	SCAN
rs2123338	PLIN2	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21685200-21695600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:21688400-21696200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:21690600-21701200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr9:21691000-21695400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr9:21691600-21695400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links