Variant report

Variant	rs1040341
Chromosome Location	chr21:15945824-15945825
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:15918667..15923010-chr21:15942455..15946099,5	K562	blood:
2	chr21:15945593..15948533-chr21:15955041..15959412,3	K562	blood:
3	chr21:15940693..15943113-chr21:15945415..15947276,2	K562	blood:
4	chr21:15944720..15947651-chr21:15950659..15952358,2	K562	blood:
5	chr21:15942194..15946580-chr21:15946989..15950349,5	K562	blood:

Variant related genes	Relation type
ENSG00000155307	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1022446	0.81[AFR][1000 genomes]
rs12162507	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12162519	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12162544	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1569360	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1882917	0.80[ASN][1000 genomes]
rs1974155	0.90[ASN][1000 genomes]
rs2064024	0.86[ASN][1000 genomes]
rs2064025	0.90[ASN][1000 genomes]
rs2142314	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2205365	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2205366	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2822768	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2822775	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2822776	0.86[ASN][1000 genomes]
rs2822777	0.86[ASN][1000 genomes]
rs3930263	0.85[ASN][1000 genomes]
rs6516880	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7282042	0.86[ASN][1000 genomes]
rs760347	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs9981275	0.86[EUR][1000 genomes]
rs9983245	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15940200-15946000	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr21:15945000-15946200	Enhancers	GM12878-XiMat	blood
3	chr21:15945000-15946200	Enhancers	K562	blood
4	chr21:15945400-15946200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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