Variant report

Variant	nsv974211
Chromosome Location	chr13:66378120-66383831
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	chr13:66377468..66378968-chr8:43092929..43094908,2	MCF-7	breast:

Extended variants
information (count: 223 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:223 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188016307	chr13:66378153-66378154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565039490	chr13:66378165-66378166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs5804258	chr13:66378171-66378172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370666403	chr13:66378172-66378173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs398023142	chr13:66378180-66378181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs28644243	chr13:66378226-66378227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573767629	chr13:66378250-66378251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575358639	chr13:66378291-66378292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544121862	chr13:66378308-66378309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141793512	chr13:66378319-66378320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191848106	chr13:66378401-66378402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553538434	chr13:66378402-66378403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560482940	chr13:66378416-66378417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542808179	chr13:66378432-66378433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150580333	chr13:66378434-66378435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs117750373	chr13:66378440-66378441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569490421	chr13:66378515-66378516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138852378	chr13:66378518-66378519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142795705	chr13:66378522-66378523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567007990	chr13:66378523-66378524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535910618	chr13:66378545-66378546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377096068	chr13:66378551-66378552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376367278	chr13:66378553-66378554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530915265	chr13:66378562-66378563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571290854	chr13:66378621-66378622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147388679	chr13:66378624-66378625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538267838	chr13:66378638-66378639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545248450	chr13:66378639-66378640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575474751	chr13:66378649-66378650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563346265	chr13:66378684-66378685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561028447	chr13:66378701-66378702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574704011	chr13:66378723-66378724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371203553	chr13:66378735-66378736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540682077	chr13:66378754-66378755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560574823	chr13:66378760-66378761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200552521	chr13:66378787-66378788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201778458	chr13:66378803-66378804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532527914	chr13:66378860-66378861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183605274	chr13:66378918-66378919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77492112	chr13:66378923-66378924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575275458	chr13:66378924-66378925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs13378265	chr13:66378974-66378975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9540559	chr13:66378986-66378987	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs188102095	chr13:66379007-66379008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs115154592	chr13:66379012-66379013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143877742	chr13:66379034-66379035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192717034	chr13:66379074-66379075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528250250	chr13:66379110-66379111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546251197	chr13:66379131-66379132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs566489054	chr13:66379152-66379153	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Intellectual disability	21811512	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	20877625	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:66377000-66379000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:66377200-66379000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr13:66379000-66379200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:66379000-66379400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr13:66379200-66379600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr13:66379400-66382200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr13:66379600-66379800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr13:66379800-66382400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr13:66380800-66382000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr13:66381000-66382800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr13:66381000-66382800	Enhancers	Osteobl	bone
12	chr13:66381400-66383200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr13:66381800-66383400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr13:66382000-66382200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr13:66382200-66382600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr13:66382200-66383000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr13:66382400-66382800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links