Variant report

Variant	rs9980490
Chromosome Location	chr21:15929682-15929683
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:15920671..15923360-chr21:15929340..15932218,2	K562	blood:
2	chr21:15927550..15930394-chr21:15933499..15936075,3	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10854319	0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11702574	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11909106	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12329657	0.81[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1882916	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1882917	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1974155	1.00[CHB][hapmap];0.88[JPT][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1980955	0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1985538	0.87[ASN][1000 genomes]
rs2064024	0.87[CHB][hapmap];0.84[JPT][hapmap];0.84[EUR][1000 genomes]
rs2064025	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2178933	0.81[EUR][1000 genomes]
rs2178934	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2205365	0.87[ASN][1000 genomes]
rs2205366	1.00[CHB][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs2223092	0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2822760	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2822761	0.81[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2822762	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2822763	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2822765	0.80[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2822767	0.87[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2822776	0.87[CHB][hapmap];0.83[JPT][hapmap];0.84[EUR][1000 genomes]
rs2822777	0.87[CHB][hapmap];0.83[JPT][hapmap];0.84[EUR][1000 genomes]
rs3810580	0.87[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3930263	0.87[CHB][hapmap];0.84[JPT][hapmap]
rs4817247	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4817248	0.89[ASN][1000 genomes]
rs6516875	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6516876	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6516880	0.85[ASN][1000 genomes]
rs7275507	0.93[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7280293	0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7282042	1.00[CHB][hapmap];0.88[JPT][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7510551	0.85[ASN][1000 genomes]
rs8132641	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9980395	0.87[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9981275	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9983245	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059591	chr21:15835325-15969195	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1056423	chr21:15838309-15948474	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv544376	chr21:15855470-15948474	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1065823	chr21:15863224-15948474	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1057934	chr21:15863224-15969195	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1058533	chr21:15896056-15948474	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv544377	chr21:15896056-15948474	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv834045	chr21:15900678-16112850	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv834046	chr21:15903792-16077369	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	esv2763685	chr21:15904945-15933282	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv587048	chr21:15908642-15932610	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv522627	chr21:15908642-15936503	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15925000-15933200	Weak transcription	K562	blood
2	chr21:15927000-15931800	Enhancers	Primary B cells from peripheral blood	blood
3	chr21:15927600-15932800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr21:15927600-15933600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr21:15928000-15930600	Enhancers	Primary B cells from cord blood	blood
6	chr21:15928600-15930000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr21:15929000-15930400	Flanking Active TSS	GM12878-XiMat	blood
8	chr21:15929000-15932400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr21:15929000-15933000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr21:15929200-15931600	Weak transcription	Dnd41	blood
11	chr21:15929400-15930600	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr21:15929600-15932000	Enhancers	Primary monocytes fromperipheralblood	blood

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