Variant report

Variant	esv3344979
Chromosome Location	chr13:39922082-39922508
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73467353	chr13:39922168-39922169	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs74044028	chr13:39922269-39922270	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs77305045	chr13:39922295-39922296	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs145279585	chr13:39922324-39922325	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs141197104	chr13:39922329-39922330	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs73467356	chr13:39922355-39922356	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs74044030	chr13:39922365-39922366	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs138741123	chr13:39922373-39922374	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs182072918	chr13:39922435-39922436	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs185138986	chr13:39922436-39922437	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Cancer	20164920	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17899364	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Monoclonal gammopathy of undetermined significance	19135901	CNVD
Prostate cancer	19242612	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Melanoma	18172304	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Retinoblastoma	21504564	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Mental retardation	17502991	CNVD
Retinoblastoma	17502991	CNVD
Bipolar disorder	18458673	CNVD
Liposarcoma	21253554	CNVD
T-cell lymphomas	19863542	CNVD
Cervical cancer	21062161	CNVD
microdeletion syndrome	19284877	CNVD
Ovarian cancer	22355333	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39904200-39923600	Weak transcription	Ovary	ovary
2	chr13:39910600-39922400	Weak transcription	Aorta	Aorta
3	chr13:39910600-39924400	Weak transcription	Adipose Nuclei	Adipose
4	chr13:39912400-39924600	Weak transcription	Fetal Lung	lung
5	chr13:39913200-39922400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr13:39914000-39922400	Weak transcription	Gastric	stomach
7	chr13:39914200-39924400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr13:39914400-39922800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr13:39914800-39924600	Weak transcription	Fetal Stomach	stomach
10	chr13:39915800-39924200	Weak transcription	Osteobl	bone
11	chr13:39916000-39922200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr13:39916200-39928000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr13:39916800-39928000	Weak transcription	NHDF-Ad	bronchial
14	chr13:39917000-39922400	Weak transcription	Lung	lung
15	chr13:39918200-39928000	Weak transcription	Esophagus	oesophagus
16	chr13:39918400-39923800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr13:39918600-39922200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr13:39919200-39922200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr13:39919800-39923000	Enhancers	Right Atrium	heart
20	chr13:39920000-39922400	Weak transcription	Brain Hippocampus Middle	brain
21	chr13:39920400-39922200	Weak transcription	Fetal Muscle Leg	muscle
22	chr13:39920400-39923800	Weak transcription	HSMMtube	muscle
23	chr13:39921600-39922400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
24	chr13:39921600-39923000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr13:39921800-39922200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr13:39921800-39922200	Enhancers	Brain Substantia Nigra	brain
27	chr13:39921800-39922400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
28	chr13:39921800-39922600	Weak transcription	Right Ventricle	heart
29	chr13:39921800-39925400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr13:39922000-39922200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr13:39922000-39922600	Flanking Active TSS	Fetal Heart	heart
32	chr13:39922000-39923000	Enhancers	Left Ventricle	heart
33	chr13:39922200-39922400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
34	chr13:39922200-39922400	Active TSS	Brain Anterior Caudate	brain
35	chr13:39922200-39922400	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr13:39922200-39922600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
37	chr13:39922200-39922600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr13:39922200-39922600	Active TSS	Duodenum Mucosa	Duodenum
39	chr13:39922200-39922600	Enhancers	Placenta Amnion	Placenta Amnion
40	chr13:39922200-39922800	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr13:39922200-39923000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr13:39922200-39923000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr13:39922200-39923000	Flanking Active TSS	Brain Substantia Nigra	brain
44	chr13:39922200-39923200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
45	chr13:39922200-39923200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr13:39922200-39923200	Enhancers	Fetal Muscle Leg	muscle
47	chr13:39922200-39923600	Enhancers	Brain Germinal Matrix	brain
48	chr13:39922200-39924600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
49	chr13:39922200-39925200	Enhancers	Brain Cingulate Gyrus	brain
50	chr13:39922200-39925400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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