Variant report

Variant	nsv1051015
Chromosome Location	chr13:54100401-54125854
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 255 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:255 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9536451	chr13:54100401-54100402	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs150039559	chr13:54100448-54100449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs78087369	chr13:54100487-54100488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145318022	chr13:54100507-54100508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544791345	chr13:54100552-54100553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs75438761	chr13:54100554-54100555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572330986	chr13:54100592-54100593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541209691	chr13:54100596-54100597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561284859	chr13:54100597-54100598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188755715	chr13:54100601-54100602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544055941	chr13:54100603-54100604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563551496	chr13:54100623-54100624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532512937	chr13:54100638-54100639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs145383328	chr13:54100670-54100671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566163088	chr13:54100731-54100732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs146450888	chr13:54100759-54100760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs367746555	chr13:54100761-54100762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs191657971	chr13:54100854-54100855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs140850236	chr13:54100864-54100865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554750610	chr13:54100866-54100867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568218473	chr13:54100872-54100873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184559456	chr13:54100964-54100965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs537230243	chr13:54100972-54100973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs78819101	chr13:54101012-54101013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541829337	chr13:54101041-54101042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs527515125	chr13:54101052-54101053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538604505	chr13:54101103-54101104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs148275935	chr13:54101135-54101136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs60464442	chr13:54101148-54101149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571796663	chr13:54101198-54101199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140367853	chr13:54101216-54101217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554754303	chr13:54101217-54101218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189794973	chr13:54101228-54101229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs11148276	chr13:54101324-54101325	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs563987411	chr13:54101343-54101344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs182572500	chr13:54101361-54101362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546171399	chr13:54101367-54101368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559934528	chr13:54101374-54101375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187144057	chr13:54101416-54101417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs150356533	chr13:54101418-54101419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561082314	chr13:54101437-54101438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529871023	chr13:54101463-54101464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs376118670	chr13:54101485-54101486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs545419229	chr13:54101544-54101545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs371189997	chr13:54101562-54101563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558644119	chr13:54101592-54101593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs549832028	chr13:54101607-54101608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572507757	chr13:54101628-54101629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189576516	chr13:54101649-54101650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs538294469	chr13:54101656-54101657	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

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
Urothelial carcinoma	21177765	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:54097400-54102400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr13:54097800-54100600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr13:54100600-54101600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:54101600-54102200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:54102000-54102200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr13:54102400-54103600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr13:54103200-54104000	Enhancers	Brain Substantia Nigra	brain
8	chr13:54103400-54104000	Enhancers	Brain Hippocampus Middle	brain
9	chr13:54103600-54103800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr13:54109600-54112600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr13:54110200-54112200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr13:54111200-54111800	Enhancers	Fetal Brain Female	brain
13	chr13:54111800-54112800	Weak transcription	Fetal Brain Female	brain
14	chr13:54112800-54113200	Enhancers	Fetal Brain Female	brain

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