Variant report

Variant	rs2822718
Chromosome Location	chr21:15892799-15892800
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:15886516..15889058-chr21:15891380..15893121,2	K562	blood:
2	chr21:15882543..15884938-chr21:15891850..15893710,2	K562	blood:
3	chr21:15882543..15885229-chr21:15891850..15893526,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1028270	0.92[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1028271	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1028273	0.96[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13046425	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13046549	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13050841	0.86[EUR][1000 genomes]
rs13051840	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1556278	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1556279	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1556280	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2049858	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2049860	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2822706	0.82[CEU][hapmap];0.87[AMR][1000 genomes]
rs2822712	0.92[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2822713	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2822714	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2822717	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2822720	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2822722	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2822723	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2822724	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2822725	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2822727	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2822728	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2822733	0.89[CHB][hapmap];0.85[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2822734	0.88[CEU][hapmap];0.83[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35382371	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35447186	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35778413	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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	nsv913405	chr21:15875108-15899085	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv913406	chr21:15875108-15905580	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv1796464	chr21:15884475-15900198	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv1800015	chr21:15884475-15906590	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv913407	chr21:15885274-15899085	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv913408	chr21:15885274-15905580	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv913409	chr21:15885274-15908642	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv459097	chr21:15886919-15902978	Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv587045	chr21:15886919-15902978	Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv459098	chr21:15886919-15906590	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv587046	chr21:15886919-15906590	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv913410	chr21:15889553-15906590	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2822718	SAMSN1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15853400-15905400	Weak transcription	HUVEC	blood vessel
2	chr21:15875800-15894000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr21:15879400-15892800	Strong transcription	Primary T helper cells PMA-I stimulated	--
4	chr21:15879800-15892800	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr21:15880800-15892800	Strong transcription	K562	blood
6	chr21:15881800-15893600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr21:15883000-15892800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr21:15883200-15892800	Weak transcription	Thymus	Thymus
9	chr21:15883200-15893200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr21:15883200-15898600	Weak transcription	Spleen	Spleen
11	chr21:15883600-15895200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr21:15884400-15892800	Weak transcription	Fetal Thymus	thymus
13	chr21:15888800-15892800	Weak transcription	Primary B cells from peripheral blood	blood
14	chr21:15889000-15892800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr21:15889200-15892800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr21:15889400-15893000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr21:15889600-15893000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr21:15891000-15892800	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr21:15891000-15892800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr21:15891200-15892800	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr21:15891400-15892800	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr21:15891400-15892800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr21:15891400-15893200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr21:15892200-15892800	Strong transcription	GM12878-XiMat	blood
25	chr21:15892400-15892800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr21:15892400-15893000	Strong transcription	Primary T cells from cord blood	blood
27	chr21:15892400-15893000	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr21:15892400-15894400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr21:15892400-15894400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr21:15892600-15892800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr21:15892600-15892800	Enhancers	Dnd41	blood
32	chr21:15892600-15893400	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr21:15892600-15893600	Genic enhancers	Primary T helper cells fromperipheralblood	blood

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