Variant report

Variant	rs703018
Chromosome Location	chr10:28621507-28621508
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:28593200..28596095-chr10:28620526..28622698,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1148188	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1249319	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1249329	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1249334	0.91[ASW][hapmap];1.00[CEU][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1249343	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1249345	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1249352	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1249419	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1249500	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1262024	1.00[ASW][hapmap];1.00[CEU][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72805607	0.84[EUR][1000 genomes]
rs72805623	0.88[EUR][1000 genomes]
rs72805652	0.80[EUR][1000 genomes]
rs915208	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][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	nsv917149	chr10:28018919-28688694	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1041555	chr10:28419399-29304934	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv1037863	chr10:28419399-29378871	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv540521	chr10:28419399-29378871	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv1044938	chr10:28601993-28659440	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs703018	NUP210	trans	brain	seeQTL

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:28616000-28621600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr10:28616800-28623000	Weak transcription	Fetal Muscle Leg	muscle
3	chr10:28616800-28623800	Weak transcription	NHLF	lung
4	chr10:28617000-28621600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr10:28617000-28621600	Weak transcription	Pancreas	Pancrea
6	chr10:28617000-28622800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr10:28617800-28622600	Weak transcription	NHEK	skin
8	chr10:28617800-28623000	Weak transcription	Fetal Stomach	stomach
9	chr10:28618600-28621600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr10:28618600-28621800	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr10:28618800-28621800	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr10:28618800-28624400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr10:28618800-28626600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr10:28619000-28621800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr10:28619000-28624600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr10:28619200-28624600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr10:28619400-28624600	Enhancers	Primary hematopoietic stem cells	blood
18	chr10:28619600-28621800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
19	chr10:28619800-28621600	Weak transcription	Fetal Thymus	thymus
20	chr10:28620000-28621600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr10:28620000-28623800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr10:28620400-28621600	Weak transcription	Primary B cells from peripheral blood	blood
23	chr10:28620600-28622000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr10:28620600-28622000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr10:28620600-28622000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
26	chr10:28620600-28622000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
27	chr10:28620600-28622200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr10:28620600-28622200	Enhancers	Stomach Smooth Muscle	stomach
29	chr10:28620600-28623800	Flanking Active TSS	Primary T cells from cord blood	blood
30	chr10:28620800-28623200	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr10:28621000-28621600	Active TSS	Primary T cells fromperipheralblood	blood
32	chr10:28621000-28621600	Enhancers	HSMMtube	muscle
33	chr10:28621000-28621600	Enhancers	Osteobl	bone
34	chr10:28621000-28622000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr10:28621000-28622000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr10:28621000-28622000	Enhancers	HSMM	muscle
37	chr10:28621000-28623400	Enhancers	Thymus	Thymus
38	chr10:28621200-28621600	Weak transcription	Primary B cells from cord blood	blood
39	chr10:28621200-28621600	Enhancers	Rectal Smooth Muscle	rectum
40	chr10:28621200-28621800	Weak transcription	Colon Smooth Muscle	Colon
41	chr10:28621200-28622200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr10:28621400-28621600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr10:28621400-28622000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr10:28621400-28622000	Enhancers	Muscle Satellite Cultured Cells	--
45	chr10:28621400-28622000	Enhancers	NH-A	brain
46	chr10:28621400-28622200	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr10:28621400-28623000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood

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