Variant report

Variant	nsv977180
Chromosome Location	chr13:87581380-87584204
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr13:87583546-87583725	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
LINC00430	TF binding region

Extended variants
information (count: 109 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187713262	chr13:87581399-87581400	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs537316686	chr13:87581456-87581457	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs79075065	chr13:87581465-87581466	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs193301498	chr13:87581473-87581474	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs567594137	chr13:87581475-87581476	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs547172416	chr13:87581477-87581478	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs535014623	chr13:87581532-87581533	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs553508045	chr13:87581534-87581535	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs202132526	chr13:87581546-87581547	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs9589653	chr13:87581592-87581593	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs185141123	chr13:87581660-87581661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557959213	chr13:87581666-87581667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532614002	chr13:87581707-87581708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75938390	chr13:87581742-87581743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142631045	chr13:87581743-87581744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9561214	chr13:87581748-87581749	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs190341101	chr13:87581768-87581769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181802128	chr13:87581777-87581778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74103656	chr13:87581860-87581861	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs536565837	chr13:87581874-87581875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150584562	chr13:87581900-87581901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551580110	chr13:87581905-87581906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200519969	chr13:87581909-87581910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548222286	chr13:87581913-87581914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183847800	chr13:87581923-87581924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4773692	chr13:87581945-87581946	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs549459359	chr13:87582007-87582008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9561217	chr13:87582058-87582059	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs4773693	chr13:87582059-87582060	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs375347883	chr13:87582079-87582080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188573319	chr13:87582131-87582132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576538604	chr13:87582160-87582161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139630555	chr13:87582179-87582180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537498868	chr13:87582182-87582183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9561221	chr13:87582189-87582190	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs557477586	chr13:87582203-87582204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149763977	chr13:87582227-87582228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537245327	chr13:87582234-87582235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs180680883	chr13:87582273-87582274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185256996	chr13:87582310-87582311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574057457	chr13:87582377-87582378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114518773	chr13:87582409-87582410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577195857	chr13:87582421-87582422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544737423	chr13:87582457-87582458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190343644	chr13:87582467-87582468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146787646	chr13:87582549-87582550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541790515	chr13:87582573-87582574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368463801	chr13:87582761-87582762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140570997	chr13:87582864-87582865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144280474	chr13:87582922-87582923	Weak transcription	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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:87579000-87581600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:87581600-87584200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:87584000-87586000	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr13:87584000-87586200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:87584000-87588000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr13:87584200-87585800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr13:87584200-87588000	Enhancers	HUES64 Cell Line	embryonic stem cell

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