Variant report

Variant	nsv946347
Chromosome Location	chr1:153138813-153140659
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	chr1:153138048..153140059-chr17:57914589..57916677,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000062716	chromatin interactions

Extended variants
information (count: 101 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112261239	chr1:153138821-153138822	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs561772224	chr1:153138827-153138828	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs530595345	chr1:153138839-153138840	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs149972335	chr1:153138849-153138850	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs183807721	chr1:153138850-153138851	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs144625363	chr1:153138854-153138855	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs187588561	chr1:153138872-153138873	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs368752209	chr1:153138874-153138875	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs566351190	chr1:153138937-153138938	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs139379985	chr1:153138962-153138963	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs144112165	chr1:153138965-153138966	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs548465316	chr1:153138966-153138967	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs568237434	chr1:153138977-153138978	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs537183911	chr1:153139001-153139002	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs557013682	chr1:153139027-153139028	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs570804933	chr1:153139036-153139037	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs494052	chr1:153139037-153139038	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs190485220	chr1:153139044-153139045	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs555231000	chr1:153139067-153139068	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs558012824	chr1:153139068-153139069	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs533749263	chr1:153139097-153139098	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs542070742	chr1:153139102-153139103	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs114494105	chr1:153139142-153139143	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs183025010	chr1:153139153-153139154	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs12086522	chr1:153139169-153139170	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs146481649	chr1:153139178-153139179	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs564164592	chr1:153139198-153139199	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs547119	chr1:153139236-153139237	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs187401263	chr1:153139289-153139290	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs140953290	chr1:153139291-153139292	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs528754529	chr1:153139344-153139345	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs200188841	chr1:153139358-153139359	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs77307111	chr1:153139359-153139360	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs542215257	chr1:153139392-153139393	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs375113911	chr1:153139418-153139419	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs548389004	chr1:153139517-153139518	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs116345428	chr1:153139519-153139520	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs143274652	chr1:153139551-153139552	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs550704014	chr1:153139602-153139603	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs140111088	chr1:153139654-153139655	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs1846858	chr1:153139677-153139678	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs566671371	chr1:153139707-153139708	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs535785882	chr1:153139722-153139723	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs555675668	chr1:153139724-153139725	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs138344835	chr1:153139726-153139727	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs142626204	chr1:153139732-153139733	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs191484571	chr1:153139749-153139750	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs375378430	chr1:153139757-153139758	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs369483238	chr1:153139768-153139769	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs146847141	chr1:153139770-153139771	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:118)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21611746	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153138400-153141400	Weak transcription	H9 Cell Line	embryonic stem cell

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