Variant report

Variant	esv1008099
Chromosome Location	chr13:39934389-39935533
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs60645370	chr13:39934391-39934392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs55874275	chr13:39934399-39934400	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs77667268	chr13:39934422-39934423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111843053	chr13:39934423-39934424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs75491098	chr13:39934436-39934437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12429978	chr13:39934462-39934463	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs113759959	chr13:39934531-39934532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111271716	chr13:39934598-39934599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148521296	chr13:39934629-39934630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs55958075	chr13:39934649-39934650	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs564373586	chr13:39934691-39934692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74354370	chr13:39934709-39934710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12430909	chr13:39934816-39934817	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs569657910	chr13:39934820-39934821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113145088	chr13:39934831-39934832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549014306	chr13:39934841-39934842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73451025	chr13:39934842-39934843	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs111843446	chr13:39934888-39934889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572994705	chr13:39934893-39934894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs60151758	chr13:39934894-39934895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558187971	chr13:39934904-39934905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571634888	chr13:39934907-39934908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs397751265	chr13:39934908-39934909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114423355	chr13:39934950-39934951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566067136	chr13:39934995-39934996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139685423	chr13:39935019-39935020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181474114	chr13:39935143-39935144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187032046	chr13:39935225-39935226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553392660	chr13:39935300-39935301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191872268	chr13:39935338-39935339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144648546	chr13:39935382-39935383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201750548	chr13:39935441-39935442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111375073	chr13:39935442-39935443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188912701	chr13:39935445-39935446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200000081	chr13:39935448-39935449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113107948	chr13:39935449-39935450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376699028	chr13:39935450-39935451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370922872	chr13:39935454-39935455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182351463	chr13:39935458-39935459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs578058599	chr13:39935459-39935460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146825087	chr13:39935460-39935461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373957301	chr13:39935468-39935469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs56082041	chr13:39935469-39935470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs367772003	chr13:39935478-39935479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs56252801	chr13:39935479-39935480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs367908452	chr13:39935480-39935481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370591605	chr13:39935519-39935520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528853064	chr13:39935531-39935532	Weak transcription	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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39925200-39936800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr13:39925200-39938600	Weak transcription	Aorta	Aorta
3	chr13:39928400-39936400	Weak transcription	Left Ventricle	heart
4	chr13:39928400-39939000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr13:39928400-39939000	Weak transcription	Right Atrium	heart
6	chr13:39928800-39938800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr13:39929200-39938800	Weak transcription	Fetal Heart	heart
8	chr13:39933600-39936400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr13:39933800-39937000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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