Variant report

Variant	nsv983750
Chromosome Location	chr13:67359108-67363510
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 146 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:146 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568781217	chr13:67359111-67359112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534481712	chr13:67359218-67359219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148056150	chr13:67359279-67359280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577281818	chr13:67359317-67359318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546337784	chr13:67359348-67359349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556582698	chr13:67359412-67359413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534190069	chr13:67359502-67359503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9540914	chr13:67359558-67359559	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs569989851	chr13:67359564-67359565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142302746	chr13:67359583-67359584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570590947	chr13:67359649-67359650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9571670	chr13:67359652-67359653	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs183031567	chr13:67359666-67359667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372870577	chr13:67359760-67359761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528334835	chr13:67359812-67359813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540111769	chr13:67359844-67359845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574642170	chr13:67359864-67359865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559735515	chr13:67359879-67359880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73501388	chr13:67359914-67359915	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs551864169	chr13:67359990-67359991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs61959182	chr13:67359992-67359993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538385116	chr13:67360013-67360014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568887409	chr13:67360046-67360047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531301685	chr13:67360101-67360102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147035072	chr13:67360121-67360122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79384719	chr13:67360122-67360123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554435886	chr13:67360125-67360126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548076383	chr13:67360224-67360225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570871258	chr13:67360242-67360243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572794852	chr13:67360244-67360245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539799131	chr13:67360246-67360247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187611339	chr13:67360247-67360248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112827486	chr13:67360252-67360253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540203420	chr13:67360260-67360261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376949024	chr13:67360281-67360282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs367757899	chr13:67360338-67360339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs35486749	chr13:67360391-67360392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565006529	chr13:67360446-67360447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191730422	chr13:67360469-67360470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184614160	chr13:67360492-67360493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371324517	chr13:67360531-67360532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs4883789	chr13:67360539-67360540	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs117568535	chr13:67360546-67360547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs116436337	chr13:67360655-67360656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576433048	chr13:67360656-67360657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541878958	chr13:67360697-67360698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562334398	chr13:67360701-67360702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544296595	chr13:67360781-67360782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs958503	chr13:67360800-67360801	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs138334407	chr13:67360826-67360827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	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
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Schizophrenia	23813976	CNVD
Prostate cancer	22341455	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67346200-67368400	Weak transcription	Brain Hippocampus Middle	brain
2	chr13:67355600-67374000	Weak transcription	HSMM	muscle
3	chr13:67362400-67364200	Enhancers	Brain Substantia Nigra	brain
4	chr13:67362600-67363400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr13:67363000-67363200	Enhancers	Brain Cingulate Gyrus	brain
6	chr13:67363200-67363600	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr13:67363200-67369600	Weak transcription	Brain Cingulate Gyrus	brain

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