Variant report

Variant	esv3311447
Chromosome Location	chr15:79084192-79084417
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561321972	chr15:79084204-79084205	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs531745036	chr15:79084229-79084230	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs74679220	chr15:79084234-79084235	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs397518109	chr15:79084265-79084266	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376354682	chr15:79084266-79084267	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565004067	chr15:79084328-79084329	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368709174	chr15:79084354-79084355	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370971674	chr15:79084355-79084356	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571336396	chr15:79084390-79084391	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532391074	chr15:79084410-79084411	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1383633	chr15:79084411-79084412	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Intellectual disability	22102821	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
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:79058000-79090000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr15:79069200-79090200	Weak transcription	NHDF-Ad	bronchial
3	chr15:79072000-79096600	Weak transcription	Brain Substantia Nigra	brain
4	chr15:79072000-79096800	Weak transcription	Colon Smooth Muscle	Colon
5	chr15:79072800-79089800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr15:79072800-79102400	Weak transcription	Fetal Kidney	kidney
7	chr15:79076400-79090400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr15:79076400-79090400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr15:79076400-79090800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr15:79077200-79084800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr15:79077200-79085200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr15:79077200-79089800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr15:79077200-79096600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:79077400-79089000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr15:79077600-79084200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr15:79077600-79087800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr15:79077800-79090600	Strong transcription	Brain Germinal Matrix	brain
18	chr15:79078000-79084200	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr15:79078000-79089400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr15:79078200-79093200	Strong transcription	Fetal Stomach	stomach
21	chr15:79078400-79085000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr15:79078400-79091800	Weak transcription	Gastric	stomach
23	chr15:79078600-79084600	Strong transcription	Fetal Muscle Trunk	muscle
24	chr15:79078600-79084800	Strong transcription	Fetal Muscle Leg	muscle
25	chr15:79078600-79085000	Strong transcription	HSMMtube	muscle
26	chr15:79078600-79089800	Weak transcription	HMEC	breast
27	chr15:79078600-79090600	Strong transcription	Fetal Brain Female	brain
28	chr15:79079000-79089600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr15:79079400-79091000	Weak transcription	HUVEC	blood vessel
30	chr15:79079600-79090600	Weak transcription	NH-A	brain
31	chr15:79080200-79084800	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr15:79080400-79096200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr15:79080600-79087400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr15:79080600-79087400	Weak transcription	Osteobl	bone
35	chr15:79080800-79084400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr15:79080800-79089400	Weak transcription	NHLF	lung
37	chr15:79080800-79095200	Weak transcription	Fetal Intestine Large	intestine
38	chr15:79081000-79088600	Weak transcription	Placenta	Placenta
39	chr15:79081400-79084400	Weak transcription	Fetal Lung	lung
40	chr15:79081800-79084200	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr15:79081800-79084600	Strong transcription	Spleen	Spleen
42	chr15:79082000-79084400	Genic enhancers	Left Ventricle	heart
43	chr15:79082000-79088000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr15:79082400-79087800	Weak transcription	Lung	lung
45	chr15:79082600-79085000	Strong transcription	Right Ventricle	heart
46	chr15:79082600-79089800	Weak transcription	Stomach Smooth Muscle	stomach
47	chr15:79082800-79087400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr15:79082800-79096200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr15:79082800-79102200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr15:79083000-79087200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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