Variant report

Variant	nsv983533
Chromosome Location	chr13:87479232-87484215
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141477192	chr13:87479242-87479243	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs560039245	chr13:87479255-87479256	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs553411761	chr13:87479290-87479291	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs77291481	chr13:87479344-87479345	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs545414843	chr13:87479346-87479347	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs532189509	chr13:87479364-87479365	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs150867191	chr13:87479383-87479384	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs560104409	chr13:87479409-87479410	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs575675201	chr13:87479455-87479456	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs543270263	chr13:87479495-87479496	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs561895148	chr13:87479501-87479502	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs529178950	chr13:87479529-87479530	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs540887567	chr13:87479545-87479546	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs369456055	chr13:87479559-87479560	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs9515995	chr13:87479611-87479612	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs369601932	chr13:87479625-87479626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550941169	chr13:87479663-87479664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs9515996	chr13:87479694-87479695	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs187050688	chr13:87479703-87479704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs74101959	chr13:87479728-87479729	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs115802627	chr13:87479745-87479746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564164932	chr13:87479776-87479777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs368850281	chr13:87479863-87479864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534894983	chr13:87479883-87479884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553748127	chr13:87479890-87479891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571946778	chr13:87479899-87479900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531294265	chr13:87479939-87479940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185036942	chr13:87482025-87482026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548586527	chr13:87482026-87482027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566487850	chr13:87482085-87482086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs527668890	chr13:87482233-87482234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189838603	chr13:87482242-87482243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543101448	chr13:87482298-87482299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183777278	chr13:87482299-87482300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556841507	chr13:87482316-87482317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71442155	chr13:87482321-87482322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368472201	chr13:87482350-87482351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536108322	chr13:87482366-87482367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554560864	chr13:87482394-87482395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370928180	chr13:87482421-87482422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs540231783	chr13:87482422-87482423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs34962866	chr13:87482438-87482439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs528833624	chr13:87482446-87482447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562557880	chr13:87482456-87482457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558716122	chr13:87482471-87482472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs576998962	chr13:87482474-87482475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs544807285	chr13:87482495-87482496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375164357	chr13:87482536-87482537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs531303857	chr13:87482539-87482540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562913308	chr13:87482545-87482546	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Prostate cancer	18632612	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:87478600-87480000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:87479000-87479600	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr13:87479400-87479600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr13:87479400-87479800	Enhancers	Brain Cingulate Gyrus	brain
5	chr13:87482000-87482800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr13:87482200-87482400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr13:87482200-87482600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr13:87482200-87482800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr13:87482400-87482600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr13:87482400-87483800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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