Variant report

Variant	rs7282042
Chromosome Location	chr21:15932610-15932611
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:15919906..15922793-chr21:15932302..15934213,2	K562	blood:
2	chr21:15932451..15935066-chr21:15942952..15944927,2	K562	blood:
3	chr21:15930237..15934475-chr21:15937814..15942130,5	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1040341	0.86[ASN][1000 genomes]
rs10854319	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs11702574	0.81[EUR][1000 genomes]
rs11909106	1.00[CHB][hapmap];0.92[CHD][hapmap];0.91[GIH][hapmap];0.89[JPT][hapmap];0.89[TSI][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12329657	0.82[CHB][hapmap];0.89[JPT][hapmap];0.85[TSI][hapmap]
rs1882916	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1882917	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1974155	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1980955	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs2064024	0.87[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2064025	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2178934	0.80[ASN][1000 genomes]
rs2205365	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2205366	0.89[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.87[TSI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2223092	0.93[CHB][hapmap];0.88[JPT][hapmap];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2822761	0.82[CHB][hapmap];0.89[JPT][hapmap];0.91[TSI][hapmap];0.82[EUR][1000 genomes]
rs2822762	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2822763	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2822765	0.87[CHB][hapmap];0.89[JPT][hapmap];0.83[TSI][hapmap];0.80[ASN][1000 genomes]
rs2822767	0.87[CHB][hapmap];0.89[JPT][hapmap];0.89[TSI][hapmap];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2822776	0.96[CEU][hapmap];0.87[CHB][hapmap];0.96[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2822777	0.96[CEU][hapmap];0.87[CHB][hapmap];0.96[CHD][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3810580	0.87[CHB][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3930263	0.87[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6516875	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6516876	0.80[ASN][1000 genomes]
rs6516880	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7275507	0.93[CHB][hapmap];0.89[JPT][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7280293	0.82[CHB][hapmap];0.89[JPT][hapmap];0.81[EUR][1000 genomes]
rs8132641	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9980395	0.87[CHB][hapmap];0.89[JPT][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9980490	1.00[CHB][hapmap];0.88[JPT][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9981275	0.88[ASN][1000 genomes]
rs9983245	1.00[CHB][hapmap];0.92[CHD][hapmap];0.86[GIH][hapmap];0.89[JPT][hapmap];0.81[TSI][hapmap];0.88[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7282042	SAMSN1	cis	lymphoblastoid	seeQTL

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15925000-15933200	Weak transcription	K562	blood
2	chr21:15927600-15932800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr21:15927600-15933600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr21:15929000-15933000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr21:15931200-15933600	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr21:15931600-15933200	Enhancers	Dnd41	blood
7	chr21:15932000-15933400	Weak transcription	Monocytes-CD14+_RO01746	blood

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