Variant report

Variant	rs7281104
Chromosome Location	chr21:15918577-15918578
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:15915978..15918625-chr21:15919465..15922478,3	K562	blood:
2	chr21:15916860..15919721-chr21:16123639..16127207,4	K562	blood:
3	chr21:15916876..15918776-chr21:16125268..16127207,2	K562	blood:
4	chr21:15916155..15921451-chr21:15952417..15958327,11	K562	blood:
5	chr21:15916330..15918586-chr21:16097161..16099794,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AF165138.7.1-4	chr21:15918526-15918634	NONHSAT081164

No data

Variant related genes	Relation type
ENSG00000232884	Chromatin interaction
ENSG00000155307	Chromatin interaction
ENSG00000223662	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1022446	0.84[CHB][hapmap];0.84[JPT][hapmap]
rs11700725	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1980954	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2064022	0.89[JPT][hapmap]
rs2178937	0.84[CHB][hapmap];0.84[CHD][hapmap];0.84[JPT][hapmap]
rs2223091	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2822749	0.95[JPT][hapmap]
rs2822769	0.84[CHB][hapmap];0.84[JPT][hapmap]
rs2822772	0.84[CHB][hapmap];0.84[JPT][hapmap]
rs28701010	0.81[ASN][1000 genomes]
rs4817234	0.90[JPT][hapmap]
rs4817235	0.85[JPT][hapmap]
rs4817236	0.94[JPT][hapmap]
rs6516877	0.88[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66740377	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7277560	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7280738	0.93[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs989938	0.84[CHB][hapmap];0.84[CHD][hapmap]
rs9978243	0.84[CHB][hapmap];0.81[JPT][hapmap]
rs9979842	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9979867	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9980028	0.84[CHB][hapmap];0.84[CHD][hapmap];0.84[JPT][hapmap]
rs9980764	0.84[CHB][hapmap];0.84[CHD][hapmap];0.84[JPT][hapmap]
rs9982259	0.93[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9982591	0.86[CHB][hapmap];0.88[JPT][hapmap]
rs9983068	0.84[CHB][hapmap];0.84[CHD][hapmap];0.84[JPT][hapmap]

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
rs7281104	RBM11	cis	cerebellum	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15913600-15919200	Active TSS	K562	blood
2	chr21:15914000-15918800	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr21:15914000-15919000	Active TSS	GM12878-XiMat	blood
4	chr21:15914200-15918800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr21:15914800-15918600	Active TSS	Primary B cells from cord blood	blood
6	chr21:15915600-15918800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
7	chr21:15916000-15918600	Active TSS	Primary T killer memory cells from peripheral blood	blood
8	chr21:15916000-15918600	Active TSS	Adipose Nuclei	Adipose
9	chr21:15916200-15918600	Active TSS	Duodenum Mucosa	Duodenum
10	chr21:15916400-15918800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
11	chr21:15916600-15918800	Active TSS	Primary hematopoietic stem cells	blood
12	chr21:15916600-15918800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
13	chr21:15916600-15918800	Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr21:15916800-15918600	Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr21:15916800-15918600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
16	chr21:15916800-15918800	Active TSS	Primary monocytes fromperipheralblood	blood
17	chr21:15916800-15918800	Active TSS	Primary T cells fromperipheralblood	blood
18	chr21:15916800-15918800	Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr21:15916800-15918800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
20	chr21:15916800-15919000	Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr21:15917000-15918600	Active TSS	Monocytes-CD14+_RO01746	blood
22	chr21:15917000-15918800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
23	chr21:15917000-15918800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr21:15917200-15918600	Active TSS	Dnd41	blood
25	chr21:15917400-15918800	Active TSS	Fetal Thymus	thymus
26	chr21:15917400-15919000	Flanking Active TSS	HUVEC	blood vessel
27	chr21:15917600-15918800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr21:15917800-15918600	Active TSS	Liver	Liver
29	chr21:15917800-15918600	Active TSS	Rectal Smooth Muscle	rectum
30	chr21:15917800-15918800	Active TSS	Primary B cells from peripheral blood	blood
31	chr21:15917800-15918800	Active TSS	Thymus	Thymus
32	chr21:15918000-15918600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
33	chr21:15918000-15918600	Active TSS	Fetal Stomach	stomach
34	chr21:15918000-15918800	Active TSS	Primary T cells from cord blood	blood
35	chr21:15918200-15918600	Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr21:15918200-15918600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr21:15918200-15918600	Active TSS	Right Atrium	heart
38	chr21:15918200-15918800	Active TSS	Placenta	Placenta
39	chr21:15918400-15918600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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