Variant report

Variant	esv3433373
Chromosome Location	chr13:67923651-67927249
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:67919389..67921263-chr13:67925624..67927193,2	MCF-7	breast:

Extended variants
information (count: 111 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552868441	chr13:67924454-67924455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573122053	chr13:67924512-67924513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190088329	chr13:67924603-67924604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558691820	chr13:67924641-67924642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs377255741	chr13:67924748-67924749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs437614	chr13:67924763-67924764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201109069	chr13:67924824-67924825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373518008	chr13:67924841-67924842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543884795	chr13:67924863-67924864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75617333	chr13:67924891-67924892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575012385	chr13:67924892-67924893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540970146	chr13:67924896-67924897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185347011	chr13:67924927-67924928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140933795	chr13:67924963-67924964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs207473954	chr13:67924998-67924999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552206557	chr13:67924999-67925000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190204682	chr13:67925018-67925019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554590592	chr13:67925023-67925024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531697620	chr13:67925098-67925099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548273742	chr13:67925164-67925165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568468222	chr13:67925192-67925193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144759333	chr13:67925219-67925220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546913930	chr13:67925287-67925288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566626991	chr13:67925306-67925307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377129351	chr13:67925328-67925329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138713260	chr13:67925335-67925336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572905959	chr13:67925436-67925437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141847977	chr13:67925446-67925447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368247300	chr13:67925452-67925453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533891864	chr13:67925454-67925455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150799122	chr13:67925464-67925465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554267235	chr13:67925465-67925466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559219529	chr13:67925483-67925484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540533065	chr13:67925495-67925496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182139102	chr13:67925519-67925520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576996407	chr13:67925547-67925548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546004421	chr13:67925553-67925554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372928944	chr13:67925578-67925579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112071528	chr13:67925585-67925586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138681499	chr13:67925596-67925597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs76996553	chr13:67925607-67925608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548709215	chr13:67925623-67925624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149354917	chr13:67925631-67925632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185229687	chr13:67925633-67925634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546866648	chr13:67925654-67925655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566791500	chr13:67925676-67925677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371300085	chr13:67925688-67925689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78926157	chr13:67925729-67925730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139955862	chr13:67925760-67925761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569082726	chr13:67925793-67925794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67924400-67927200	Weak transcription	HSMM	muscle
2	chr13:67925800-67927800	Enhancers	Muscle Satellite Cultured Cells	--
3	chr13:67926000-67926200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr13:67926200-67928000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr13:67927200-67928000	Enhancers	HSMM	muscle

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