Variant report

Variant	nsv983525
Chromosome Location	chr13:70115819-70122747
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 193 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:193 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563294824	chr13:70117639-70117640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs553550987	chr13:70117651-70117652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558442199	chr13:70117697-70117698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528834148	chr13:70117714-70117715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570617409	chr13:70117745-70117746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142530967	chr13:70117769-70117770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs565953497	chr13:70117784-70117785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577951235	chr13:70117815-70117816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537909899	chr13:70117824-70117825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556181036	chr13:70117827-70117828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189345454	chr13:70117840-70117841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570643583	chr13:70117914-70117915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs150920651	chr13:70117917-70117918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs375670749	chr13:70117953-70117954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556209423	chr13:70118004-70118005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370879877	chr13:70118021-70118022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140404186	chr13:70118029-70118030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144275202	chr13:70118045-70118046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112172350	chr13:70118058-70118059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555835171	chr13:70118121-70118122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374267361	chr13:70118188-70118189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574490681	chr13:70118190-70118191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572678185	chr13:70118203-70118204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541299128	chr13:70118215-70118216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376130263	chr13:70118225-70118226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs180929007	chr13:70118268-70118269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542188174	chr13:70118269-70118270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554431858	chr13:70118316-70118317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147827476	chr13:70118345-70118346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371039846	chr13:70118413-70118414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs117928798	chr13:70118435-70118436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141368084	chr13:70118447-70118448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185760416	chr13:70118451-70118452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559413359	chr13:70118455-70118456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527937183	chr13:70118459-70118460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191108762	chr13:70118470-70118471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370332789	chr13:70118521-70118522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370394744	chr13:70118522-70118523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147487491	chr13:70118541-70118542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs3048102	chr13:70118548-70118549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs56139188	chr13:70118551-70118552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183259047	chr13:70118554-70118555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150343658	chr13:70118558-70118559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145143181	chr13:70118562-70118563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77510477	chr13:70118574-70118575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7490641	chr13:70118668-70118669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545255450	chr13:70118682-70118683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530580665	chr13:70118689-70118690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2150149	chr13:70118731-70118732	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs570134209	chr13:70118754-70118755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Myelofibrosis	22110671	CNVD
Esophageal cancer	21851588	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:70117600-70118000	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr13:70118000-70119200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr13:70119000-70119800	Enhancers	Fetal Intestine Small	intestine
4	chr13:70119000-70119800	Enhancers	Stomach Mucosa	stomach
5	chr13:70119200-70119400	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr13:70119400-70119600	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr13:70119400-70120000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr13:70119400-70121000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr13:70119800-70122000	Weak transcription	Stomach Mucosa	stomach
10	chr13:70121000-70122600	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr13:70122000-70122400	Enhancers	Stomach Mucosa	stomach

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