Variant report

Variant	nsv975956
Chromosome Location	chr11:84350978-84352532
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	chr11:84351835-84351920	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000240174	TF binding region

Extended variants
information (count: 74 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536527948	chr11:84350978-84350979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187875706	chr11:84351065-84351066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532344202	chr11:84351070-84351071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376987206	chr11:84351087-84351088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537087497	chr11:84351139-84351140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560414239	chr11:84351214-84351215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566989943	chr11:84351226-84351227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576925798	chr11:84351232-84351233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540799233	chr11:84351252-84351253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527565500	chr11:84351283-84351284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140537238	chr11:84351304-84351305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192035281	chr11:84351310-84351311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563641252	chr11:84351315-84351316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530386798	chr11:84351335-84351336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538714887	chr11:84351339-84351340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552207325	chr11:84351356-84351357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185460159	chr11:84351368-84351369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528213798	chr11:84351381-84351382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150328028	chr11:84351386-84351387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566118824	chr11:84351425-84351426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs137928437	chr11:84351437-84351438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548591492	chr11:84351456-84351457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75011292	chr11:84351464-84351465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142382433	chr11:84351468-84351469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368566068	chr11:84351516-84351517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375297471	chr11:84351545-84351546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558550416	chr11:84351562-84351563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570547159	chr11:84351612-84351613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs56405892	chr11:84351629-84351630	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs189569218	chr11:84351673-84351674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574537432	chr11:84351685-84351686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542019165	chr11:84351693-84351694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556931206	chr11:84351715-84351716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11234103	chr11:84351760-84351761	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs368587484	chr11:84351770-84351771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372441520	chr11:84351783-84351784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544189031	chr11:84351798-84351799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192914006	chr11:84351804-84351805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564053781	chr11:84351822-84351823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527750423	chr11:84351844-84351845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116054070	chr11:84351856-84351857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539947487	chr11:84351897-84351898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs80095156	chr11:84351958-84351959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11234104	chr11:84351987-84351988	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs34851864	chr11:84351995-84351996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs71036435	chr11:84351996-84351997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201325870	chr11:84351997-84351998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201334567	chr11:84351998-84351999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530192641	chr11:84351999-84352000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200183840	chr11:84352006-84352007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	20844748	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Colorectal cancer	16912164	CNVD
Mental retardation	17847001	CNVD
Melanoma	19509136	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Cancer	20164920	CNVD
Obesity	20622171	CNVD
Breast cancer	22522925	CNVD
Developmental delay	21147756	CNVD
Bipolar disorder	19114987	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ductal carcinoma	22052326	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:84349600-84366800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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