Variant report

Variant	rs456019
Chromosome Location	chr21:46034606-46034607
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46023116..46026036-chr21:46032352..46034707,2	K562	blood:
2	chr21:46033173..46036596-chr21:46037526..46039917,3	K562	blood:
3	chr21:46033170..46034673-chr21:46036556..46039026,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1211103	1.00[CEU][hapmap];0.90[CHD][hapmap];0.85[GIH][hapmap];0.81[EUR][1000 genomes]
rs1211121	1.00[CEU][hapmap]
rs1211123	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs12627414	0.90[CHD][hapmap]
rs170849	0.87[CEU][hapmap];0.88[CHB][hapmap];0.91[CHD][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs2226687	0.88[CHB][hapmap];0.95[CHD][hapmap];0.82[MEX][hapmap]
rs233262	0.82[CEU][hapmap];0.86[CHB][hapmap];0.85[EUR][1000 genomes]
rs233263	0.85[EUR][1000 genomes]
rs233264	0.87[CEU][hapmap];0.82[CHB][hapmap];0.85[EUR][1000 genomes]
rs233265	0.87[CEU][hapmap];0.88[CHB][hapmap];0.83[EUR][1000 genomes]
rs233267	0.88[EUR][1000 genomes]
rs233268	0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.96[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs233269	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs233270	0.87[CEU][hapmap];0.89[GIH][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs233271	0.89[CHB][hapmap];0.92[EUR][1000 genomes]
rs233272	0.87[CEU][hapmap];0.89[CHB][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs2838598	0.82[CHB][hapmap];0.95[CHD][hapmap];0.92[JPT][hapmap]
rs2838600	0.85[MEX][hapmap]
rs367771	0.87[CEU][hapmap];0.94[CHB][hapmap];0.92[EUR][1000 genomes]
rs370092	0.86[CHD][hapmap];0.81[EUR][1000 genomes]
rs371248	1.00[CEU][hapmap]
rs377234	1.00[CEU][hapmap];0.85[CHD][hapmap];0.85[GIH][hapmap];0.81[EUR][1000 genomes]
rs377263	1.00[CEU][hapmap]
rs382935	1.00[CEU][hapmap];0.90[CHD][hapmap];0.85[GIH][hapmap];0.81[EUR][1000 genomes]
rs384645	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs392451	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs392686	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.92[JPT][hapmap];0.83[EUR][1000 genomes]
rs398680	1.00[CEU][hapmap];0.90[CHD][hapmap];0.85[GIH][hapmap];0.81[EUR][1000 genomes]
rs403981	1.00[CEU][hapmap];0.81[CHD][hapmap];0.85[GIH][hapmap]
rs404341	1.00[CEU][hapmap];0.81[CHD][hapmap];0.85[GIH][hapmap];0.81[EUR][1000 genomes]
rs408958	1.00[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap]
rs411254	1.00[CEU][hapmap];0.88[CHB][hapmap];0.95[CHD][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs415753	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.92[JPT][hapmap];0.83[EUR][1000 genomes]
rs416056	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs417538	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs418260	0.82[MEX][hapmap]
rs423954	0.87[EUR][1000 genomes]
rs425823	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs437149	0.81[EUR][1000 genomes]
rs442226	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs445214	0.87[CEU][hapmap];0.88[CHB][hapmap];0.86[CHD][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs446817	1.00[CEU][hapmap]
rs451948	0.87[EUR][1000 genomes]
rs452002	1.00[CEU][hapmap];0.90[CHD][hapmap];0.85[GIH][hapmap];0.81[EUR][1000 genomes]
rs452547	0.81[EUR][1000 genomes]
rs465701	0.91[ASN][1000 genomes]
rs487102	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.92[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs659638	1.00[CEU][hapmap];0.90[CHD][hapmap];0.85[GIH][hapmap];0.81[EUR][1000 genomes]
rs8132500	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065798	chr21:45941000-46097463	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv869108	chr21:45941000-46097463	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv544476	chr21:45941000-46097463	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv913950	chr21:45985068-46097463	Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46018400-46048400	Weak transcription	Right Atrium	heart
2	chr21:46032200-46038600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr21:46032400-46036000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr21:46032400-46037000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr21:46032600-46036000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr21:46033800-46035200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr21:46033800-46036800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr21:46034600-46034800	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr21:46034600-46037200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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