Variant report

Variant	rs10518694
Chromosome Location	chr15:53072673-53072674
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:53060401..53062540-chr15:53070993..53073276,2	MCF-7	breast:
2	chr15:53072253..53073288-chr15:54008890..54009735,3	MCF-7	breast:
3	chr15:53072513..53073379-chr15:53804086..53804809,3	MCF-7	breast:
4	chr15:53072465..53075963-chr15:53080706..53083147,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169856	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs2120450	0.83[EUR][1000 genomes]
rs2243790	0.89[CEU][hapmap];0.82[TSI][hapmap];0.88[EUR][1000 genomes]
rs2440317	0.85[ASN][1000 genomes]
rs2440322	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2440376	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs2456507	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2456522	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2456524	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2456525	0.91[EUR][1000 genomes]
rs2456526	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];0.87[TSI][hapmap];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2456529	0.93[EUR][1000 genomes]
rs2456530	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs2456532	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs28475375	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60065065	0.92[EUR][1000 genomes]
rs7180600	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv471245	chr15:52607262-53187165	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv1041421	chr15:52661342-53148286	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv457142	chr15:53041887-53091896	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
4	nsv569427	chr15:53041887-53091896	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
5	nsv1046970	chr15:53065114-53142386	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a
6	nsv569428	chr15:53069874-53140045	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10518694	ORMDL3	trans	cerebellum	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:53069800-53073000	Weak transcription	Pancreas	Pancrea
2	chr15:53070600-53073000	Enhancers	Liver	Liver
3	chr15:53071000-53075400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr15:53071800-53073000	Enhancers	H1 Cell Line	embryonic stem cell
5	chr15:53072000-53072800	Enhancers	Primary B cells from peripheral blood	blood
6	chr15:53072000-53073400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr15:53072000-53073400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
8	chr15:53072200-53072800	Enhancers	Primary hematopoietic stem cells	blood
9	chr15:53072200-53073400	Bivalent Enhancer	Colon Smooth Muscle	Colon
10	chr15:53072200-53073600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr15:53072400-53072800	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr15:53072400-53072800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
13	chr15:53072400-53072800	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
14	chr15:53072400-53072800	Flanking Bivalent TSS/Enh	A549	lung
15	chr15:53072400-53073000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
16	chr15:53072400-53073000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
17	chr15:53072400-53073000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
18	chr15:53072400-53073000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
19	chr15:53072400-53073000	Bivalent Enhancer	Fetal Lung	lung
20	chr15:53072400-53073400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr15:53072400-53073400	Bivalent Enhancer	Fetal Muscle Leg	muscle
22	chr15:53072400-53073800	Enhancers	HepG2	liver
23	chr15:53072600-53072800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
24	chr15:53072600-53072800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr15:53072600-53072800	Bivalent Enhancer	Primary T cells from cord blood	blood
26	chr15:53072600-53072800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
27	chr15:53072600-53072800	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr15:53072600-53072800	Bivalent Enhancer	Hela-S3	cervix
29	chr15:53072600-53073000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
30	chr15:53072600-53073000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr15:53072600-53073000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
32	chr15:53072600-53073000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr15:53072600-53073000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr15:53072600-53073000	Bivalent Enhancer	Brain Cingulate Gyrus	brain
35	chr15:53072600-53073000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
36	chr15:53072600-53073000	Bivalent Enhancer	Fetal Heart	heart
37	chr15:53072600-53073000	Active TSS	GM12878-XiMat	blood
38	chr15:53072600-53073000	Enhancers	HMEC	breast
39	chr15:53072600-53073200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
40	chr15:53072600-53073200	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr15:53072600-53073200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr15:53072600-53073400	Flanking Active TSS	Primary B cells from cord blood	blood
43	chr15:53072600-53073400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain

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