Variant report

Variant	rs2281418
Chromosome Location	chr20:15931449-15931450
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1012298	0.83[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12624676	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1339257	0.83[CHB][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs1339258	0.83[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs58630549	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs59581588	0.94[AMR][1000 genomes]
rs60190468	0.94[AMR][1000 genomes]
rs6034327	0.90[CHB][hapmap];0.84[CHD][hapmap];0.80[ASN][1000 genomes]
rs6034328	0.90[CHB][hapmap];0.84[CHD][hapmap];0.82[ASN][1000 genomes]
rs6043620	0.90[CHB][hapmap];0.82[ASN][1000 genomes]
rs6074979	1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6074980	0.84[ASW][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.81[YRI][hapmap];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6074983	0.81[ASN][1000 genomes]
rs6074984	0.94[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.88[JPT][hapmap];0.94[ASN][1000 genomes]
rs6080021	0.90[CHB][hapmap];0.81[CHD][hapmap];0.82[ASN][1000 genomes]
rs6080023	0.82[CHD][hapmap]
rs6080024	0.85[CHD][hapmap]
rs6080032	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6080042	0.82[EUR][1000 genomes]
rs6080044	0.82[CHD][hapmap];0.83[GIH][hapmap];0.88[MEX][hapmap];0.81[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6080048	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6080050	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6080052	0.83[CHB][hapmap];0.94[JPT][hapmap];0.81[YRI][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6080055	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6080056	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6080057	0.83[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6080058	0.81[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6080063	0.82[JPT][hapmap]
rs6080064	0.82[ASN][1000 genomes]
rs6080069	0.94[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.88[JPT][hapmap];0.95[ASN][1000 genomes]
rs6105492	0.94[CHB][hapmap];0.86[CHD][hapmap];0.82[ASN][1000 genomes]
rs6110832	0.84[CHB][hapmap]
rs6110836	0.94[CHB][hapmap];0.83[CHD][hapmap];0.80[ASN][1000 genomes]
rs6110847	0.84[ASW][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.81[YRI][hapmap];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6110848	0.94[CHB][hapmap];0.94[JPT][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6131738	0.85[CHB][hapmap]
rs6131739	0.94[AMR][1000 genomes]
rs6131740	0.81[AMR][1000 genomes]
rs6131741	0.81[AMR][1000 genomes]
rs6131743	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6131745	0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6131747	0.83[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6131748	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6131749	0.81[ASN][1000 genomes]
rs6131750	0.82[ASN][1000 genomes]
rs6135598	0.82[JPT][hapmap];0.82[MEX][hapmap];0.81[AMR][1000 genomes]
rs6135600	0.81[AMR][1000 genomes]
rs6135601	0.81[AMR][1000 genomes]
rs6135602	0.88[CHD][hapmap];0.94[MEX][hapmap];0.91[MKK][hapmap];0.89[AMR][1000 genomes]
rs6135603	0.81[AMR][1000 genomes]
rs6135604	0.81[AMR][1000 genomes]
rs6135605	0.84[JPT][hapmap];0.91[AMR][1000 genomes]
rs6135606	0.91[AMR][1000 genomes]
rs6135607	0.93[YRI][hapmap];0.94[AMR][1000 genomes]
rs6135608	0.82[ASW][hapmap];0.85[CHD][hapmap];0.94[MEX][hapmap];0.88[MKK][hapmap];0.93[YRI][hapmap];0.94[AMR][1000 genomes]
rs6135612	0.94[CHB][hapmap];0.83[CHD][hapmap];0.82[ASN][1000 genomes]
rs6135614	0.81[AMR][1000 genomes]
rs6135620	0.86[ASN][1000 genomes]
rs6135621	0.94[ASN][1000 genomes]
rs6135622	1.00[CHB][hapmap];0.87[JPT][hapmap];0.95[ASN][1000 genomes]
rs766970	0.83[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.90[TSI][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8183396	0.82[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869328	chr20:15325423-16213898	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv833929	chr20:15765372-15977337	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv3447866	chr20:15799286-16115291	Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15923000-15951200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr20:15924200-15938400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr20:15930200-15932400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr20:15930600-15932200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr20:15930800-15933400	Enhancers	Hela-S3	cervix
6	chr20:15931000-15932400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr20:15931000-15937200	Strong transcription	Primary B cells from cord blood	blood
8	chr20:15931200-15932200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr20:15931400-15931800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr20:15931400-15932400	Enhancers	HSMMtube	muscle

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