Variant report

Variant	nsv983589
Chromosome Location	chr13:52950916-52951676
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557992523	chr13:52950925-52950926	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs61285838	chr13:52950929-52950930	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs60045380	chr13:52950960-52950961	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553779934	chr13:52950982-52950983	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs117820220	chr13:52950987-52950988	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191654726	chr13:52950990-52950991	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368164269	chr13:52951052-52951053	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563159237	chr13:52951105-52951106	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576562030	chr13:52951107-52951108	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545553006	chr13:52951175-52951176	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564040138	chr13:52951230-52951231	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138972063	chr13:52951246-52951247	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114349426	chr13:52951269-52951270	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560237642	chr13:52951294-52951295	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528885624	chr13:52951299-52951300	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7997389	chr13:52951302-52951303	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs1052735	chr13:52951344-52951345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569105285	chr13:52951348-52951349	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1052734	chr13:52951350-52951351	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531423866	chr13:52951385-52951386	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1052731	chr13:52951417-52951418	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369626439	chr13:52951439-52951440	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369124344	chr13:52951523-52951524	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551588081	chr13:52951524-52951525	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571090286	chr13:52951566-52951567	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534074839	chr13:52951574-52951575	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553843095	chr13:52951657-52951658	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200361023	chr13:52951673-52951674	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
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
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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	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
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
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Melanoma	18172304	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	18852474	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52934000-52951800	Weak transcription	Fetal Intestine Small	intestine
2	chr13:52946000-52951800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr13:52946000-52951800	Weak transcription	Adipose Nuclei	Adipose
4	chr13:52946000-52951800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr13:52946000-52951800	Weak transcription	Left Ventricle	heart
6	chr13:52946000-52951800	Weak transcription	Lung	lung
7	chr13:52946000-52951800	Weak transcription	Pancreas	Pancrea
8	chr13:52946000-52951800	Weak transcription	Right Ventricle	heart
9	chr13:52946000-52952000	Weak transcription	Aorta	Aorta
10	chr13:52946000-52952000	Weak transcription	Ovary	ovary
11	chr13:52946000-52952800	Weak transcription	Gastric	stomach
12	chr13:52946000-52969600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr13:52946200-52951800	Weak transcription	Esophagus	oesophagus
14	chr13:52946200-52951800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr13:52946200-52952000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr13:52946200-52952600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr13:52946200-52979200	Weak transcription	A549	lung
18	chr13:52946800-52951800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr13:52946800-52951800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr13:52946800-52951800	Weak transcription	Fetal Muscle Leg	muscle
21	chr13:52947400-52951800	Weak transcription	NHLF	lung
22	chr13:52947600-52951800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr13:52947800-52968000	Weak transcription	NHDF-Ad	bronchial
24	chr13:52948000-52951800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr13:52948000-52952000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr13:52948000-52952000	Weak transcription	NHEK	skin
27	chr13:52949000-52955800	Weak transcription	Brain Angular Gyrus	brain
28	chr13:52949200-52951800	Weak transcription	Brain Germinal Matrix	brain
29	chr13:52949400-52951800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr13:52949400-52951800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr13:52949400-52952000	Weak transcription	HMEC	breast
32	chr13:52949400-52952000	Weak transcription	HUVEC	blood vessel
33	chr13:52949600-52951400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr13:52949600-52951600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr13:52949600-52951800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr13:52949600-52952800	Weak transcription	Liver	Liver
37	chr13:52949800-52951800	Weak transcription	Spleen	Spleen
38	chr13:52949800-52979000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr13:52950000-52951800	Weak transcription	Fetal Stomach	stomach
40	chr13:52950200-52951800	Weak transcription	Stomach Smooth Muscle	stomach
41	chr13:52950200-52954200	Strong transcription	HSMM	muscle
42	chr13:52950400-52952000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr13:52950400-52952000	Weak transcription	Fetal Intestine Large	intestine
44	chr13:52950400-52952600	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr13:52950600-52952200	Weak transcription	Fetal Brain Female	brain
46	chr13:52950600-52952600	Strong transcription	Osteobl	bone
47	chr13:52950600-52953600	Strong transcription	HSMMtube	muscle
48	chr13:52950800-52951400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr13:52951000-52952600	Weak transcription	Primary T cells from cord blood	blood
50	chr13:52951000-52953400	Weak transcription	Thymus	Thymus

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