Variant report

Variant	esv3387489
Chromosome Location	chr15:92499398-92501396
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:92495579..92497655-chr15:92499848..92503443,3	MCF-7	breast:

Extended variants
information (count: 106 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369242842	chr15:92499437-92499438	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs542840934	chr15:92499441-92499442	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs72754086	chr15:92499448-92499449	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs75673498	chr15:92499558-92499559	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs575773059	chr15:92499686-92499687	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs544598889	chr15:92499707-92499708	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs555209542	chr15:92499770-92499771	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs533006741	chr15:92499837-92499838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573563649	chr15:92499844-92499845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542167526	chr15:92499874-92499875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558917919	chr15:92499953-92499954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76021035	chr15:92499996-92499997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549793736	chr15:92500012-92500013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201002182	chr15:92500029-92500030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs118149749	chr15:92500040-92500041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs386786495	chr15:92500100-92500101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs113270464	chr15:92500106-92500107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs11074028	chr15:92500111-92500112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371351060	chr15:92500125-92500126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537320084	chr15:92500166-92500167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs377177879	chr15:92500198-92500199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs6496881	chr15:92500206-92500207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs6496882	chr15:92500207-92500208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs370413709	chr15:92500223-92500224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12903468	chr15:92500224-92500225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs12903471	chr15:92500231-92500232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs12899458	chr15:92500232-92500233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs6496883	chr15:92500241-92500242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs12903477	chr15:92500242-92500243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs6496884	chr15:92500248-92500249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372562510	chr15:92500256-92500257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7163231	chr15:92500257-92500258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs376111825	chr15:92500263-92500264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs7163235	chr15:92500264-92500265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs7168106	chr15:92500265-92500266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs370993006	chr15:92500271-92500272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs375631439	chr15:92500280-92500281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs368307300	chr15:92500281-92500282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs7163392	chr15:92500282-92500283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191821446	chr15:92500296-92500297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184062240	chr15:92500297-92500298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs376432875	chr15:92500307-92500308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs372068841	chr15:92500321-92500322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374930705	chr15:92500322-92500323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs371356916	chr15:92500332-92500333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs376102636	chr15:92500338-92500339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs368376833	chr15:92500340-92500341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs367903221	chr15:92500341-92500342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372416499	chr15:92500344-92500345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs375554448	chr15:92500355-92500356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Epilepsy	19486360	CNVD
Acute myeloid leukemia	17237825	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	21147756	CNVD
Hepatocellular carcinoma	16750200	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Schizophrenia	17989066	CNVD
Myelofibrosis	22110671	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:92489200-92499400	Enhancers	Brain Hippocampus Middle	brain
2	chr15:92491600-92500600	Weak transcription	Psoas Muscle	Psoas
3	chr15:92492000-92499400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:92492000-92499400	Weak transcription	Brain Anterior Caudate	brain
5	chr15:92492400-92499400	Weak transcription	NHLF	lung
6	chr15:92493200-92500200	Enhancers	HMEC	breast
7	chr15:92494000-92499400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr15:92494600-92499400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr15:92495400-92505400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr15:92495600-92499400	Enhancers	Hela-S3	cervix
11	chr15:92495600-92499600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr15:92496000-92499800	Enhancers	Fetal Heart	heart
13	chr15:92496000-92500800	Enhancers	Left Ventricle	heart
14	chr15:92496000-92500800	Enhancers	Right Atrium	heart
15	chr15:92496400-92500800	Enhancers	Lung	lung
16	chr15:92496800-92500200	Enhancers	Right Ventricle	heart
17	chr15:92497000-92499400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr15:92497000-92499800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr15:92497000-92499800	Enhancers	Esophagus	oesophagus
20	chr15:92497000-92500000	Enhancers	Adipose Nuclei	Adipose
21	chr15:92497000-92500200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr15:92497600-92499600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr15:92497800-92499400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr15:92498000-92500000	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr15:92498000-92500800	Enhancers	Ovary	ovary
26	chr15:92498000-92502200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr15:92498200-92499800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr15:92498200-92505200	Weak transcription	Colonic Mucosa	Colon
29	chr15:92498200-92555000	Weak transcription	Gastric	stomach
30	chr15:92498400-92499400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr15:92498400-92505200	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr15:92498600-92499600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr15:92498600-92503000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr15:92498800-92500000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr15:92499000-92499600	Enhancers	Brain Cingulate Gyrus	brain
36	chr15:92499000-92499600	Flanking Active TSS	NHEK	skin
37	chr15:92499000-92499800	Enhancers	Placenta Amnion	Placenta Amnion
38	chr15:92499000-92499800	Enhancers	A549	lung
39	chr15:92499000-92500000	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr15:92499000-92500000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr15:92499000-92500000	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr15:92499000-92500000	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr15:92499000-92500000	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr15:92499000-92500000	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr15:92499000-92500000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr15:92499000-92500000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr15:92499000-92500000	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr15:92499000-92500000	Enhancers	Osteobl	bone
49	chr15:92499000-92505200	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr15:92499200-92499400	Enhancers	Duodenum Mucosa	Duodenum

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