Variant report

Variant	nsv974214
Chromosome Location	chr13:70129981-70142962
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:70139358..70139986-chr13:70431208..70431784,2	MCF-7	breast:
2	chr13:70138280..70140328-chr13:70148714..70150548,2	MCF-7	breast:
3	chr13:70139732..70140265-chr13:71142279..71142907,2	MCF-7	breast:

Extended variants
information (count: 264 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:264 , 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	rs538342155	chr13:70129984-70129985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554605122	chr13:70129999-70130000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139389380	chr13:70130043-70130044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533927934	chr13:70130059-70130060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554069697	chr13:70130060-70130061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377418505	chr13:70130109-70130110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573844094	chr13:70130114-70130115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143276064	chr13:70130157-70130158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556738193	chr13:70130213-70130214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192895551	chr13:70130302-70130303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541954345	chr13:70130318-70130319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561756037	chr13:70130371-70130372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184316918	chr13:70130389-70130390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs116053028	chr13:70130399-70130400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563891770	chr13:70130415-70130416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533279606	chr13:70130439-70130440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs56358562	chr13:70130466-70130467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549764117	chr13:70130570-70130571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569844683	chr13:70130585-70130586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529046425	chr13:70130607-70130608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs548323566	chr13:70130624-70130625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533361130	chr13:70130626-70130627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533963908	chr13:70130654-70130655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533472612	chr13:70130662-70130663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs146932309	chr13:70130668-70130669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570726944	chr13:70130744-70130745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540128416	chr13:70130745-70130746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs556537410	chr13:70130762-70130763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576616923	chr13:70130769-70130770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187200020	chr13:70130783-70130784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs147974459	chr13:70130883-70130884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191622472	chr13:70130885-70130886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs183856932	chr13:70130931-70130932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564115616	chr13:70130934-70130935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577529386	chr13:70130970-70130971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs141691929	chr13:70130981-70130982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563433905	chr13:70131003-70131004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189117050	chr13:70131009-70131010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182501213	chr13:70131014-70131015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548750490	chr13:70131039-70131040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201767173	chr13:70131043-70131044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116331986	chr13:70131044-70131045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527799648	chr13:70131072-70131073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547527543	chr13:70131089-70131090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12862523	chr13:70131113-70131114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12863220	chr13:70131131-70131132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570834445	chr13:70131204-70131205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539439621	chr13:70131207-70131208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550495392	chr13:70131261-70131262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570348244	chr13:70131267-70131268	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:70129200-70137600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:70130200-70131000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr13:70130400-70131000	Enhancers	Hela-S3	cervix
4	chr13:70136800-70137000	Enhancers	Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links