Variant report

Variant	esv20190
Chromosome Location	chr15:40009652-40012222
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40004259..40006236-chr15:40010388..40013115,2	MCF-7	breast:
2	chr15:40011583..40013446-chr15:40013529..40016434,2	MCF-7	breast:
3	chr15:39991017..39993549-chr15:40010029..40012182,2	K562	blood:
4	chr15:40011315..40014662-chr15:40074849..40076901,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000150667	chromatin interactions

Extended variants
information (count: 105 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548377243	chr15:40009684-40009685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140743915	chr15:40009698-40009699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150089602	chr15:40009703-40009704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs16969688	chr15:40009739-40009740	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs570806786	chr15:40009802-40009803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539775454	chr15:40009806-40009807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556246577	chr15:40009810-40009811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569778594	chr15:40009829-40009830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200458801	chr15:40009838-40009839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76184526	chr15:40009928-40009929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs16969692	chr15:40009988-40009989	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs371085219	chr15:40010025-40010026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138354550	chr15:40010036-40010037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75101456	chr15:40010060-40010061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569378050	chr15:40010061-40010062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147375208	chr15:40010088-40010089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78287296	chr15:40010131-40010132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143628216	chr15:40010132-40010133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531463831	chr15:40010145-40010146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541931663	chr15:40010180-40010181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561908184	chr15:40010236-40010237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75886962	chr15:40010273-40010274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547380168	chr15:40010307-40010308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570687569	chr15:40010328-40010329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77802015	chr15:40010333-40010334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549734619	chr15:40010345-40010346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565434087	chr15:40010355-40010356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148693404	chr15:40010416-40010417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529665482	chr15:40010424-40010425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs57522022	chr15:40010438-40010439	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs199605968	chr15:40010452-40010453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574944778	chr15:40010454-40010455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562149768	chr15:40010462-40010463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs59826408	chr15:40010465-40010466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369054064	chr15:40010473-40010474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535171981	chr15:40010496-40010497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558175430	chr15:40010505-40010506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71882079	chr15:40010506-40010507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370804258	chr15:40010517-40010518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs578176768	chr15:40010531-40010532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544107323	chr15:40010552-40010553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556229288	chr15:40010572-40010573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7173948	chr15:40010577-40010578	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs193116323	chr15:40010593-40010594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537704862	chr15:40010638-40010639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527506162	chr15:40010661-40010662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545835524	chr15:40010694-40010695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377171587	chr15:40010695-40010696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs397934958	chr15:40010709-40010710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150620662	chr15:40010717-40010718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	17440070	CNVD
Basal cell lymphoma	17053054	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21129771	CNVD
Breast cancer	21045282	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Ovarian cancer	21720365	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40001200-40011800	Weak transcription	NHDF-Ad	bronchial
2	chr15:40003600-40011200	Weak transcription	Osteobl	bone
3	chr15:40007000-40011800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr15:40008800-40011600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr15:40009000-40011200	Weak transcription	NHEK	skin
6	chr15:40009000-40012600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr15:40011000-40014400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr15:40011000-40014800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr15:40011200-40012800	Enhancers	Placenta	Placenta
10	chr15:40011200-40012800	Enhancers	Osteobl	bone
11	chr15:40011200-40013200	Enhancers	NHEK	skin
12	chr15:40011200-40013400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr15:40011600-40013600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr15:40011600-40013600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr15:40011600-40014000	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr15:40011800-40012400	Enhancers	Fetal Lung	lung
17	chr15:40011800-40012800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr15:40011800-40012800	Enhancers	NHDF-Ad	bronchial
19	chr15:40011800-40013800	Enhancers	Primary hematopoietic stem cells	blood
20	chr15:40011800-40014400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr15:40012000-40014400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr15:40012000-40014400	Enhancers	HMEC	breast
23	chr15:40012200-40012800	Enhancers	NH-A	brain
24	chr15:40012200-40014000	Enhancers	HSMM	muscle

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