Variant report

Variant	esv3415313
Chromosome Location	chr11:93077221-93079448
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	chr11:93073470..93075711-chr11:93076090..93078058,3	K562	blood:
2	chr11:93071693..93075420-chr11:93075820..93077590,4	K562	blood:

Extended variants
information (count: 85 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552158962	chr11:93077348-93077349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570739913	chr11:93077380-93077381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537601671	chr11:93077393-93077394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556325252	chr11:93077401-93077402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567955858	chr11:93077416-93077417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535541021	chr11:93077418-93077419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553877737	chr11:93077486-93077487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189271765	chr11:93077490-93077491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144364545	chr11:93077540-93077541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148772891	chr11:93077566-93077567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs78677121	chr11:93077615-93077616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs34017458	chr11:93077619-93077620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543806184	chr11:93077646-93077647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185504716	chr11:93077737-93077738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs368590505	chr11:93077738-93077739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs79467687	chr11:93077743-93077744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189583335	chr11:93077746-93077747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560310873	chr11:93077887-93077888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs113542953	chr11:93077966-93077967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs61919164	chr11:93077969-93077970	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs59612948	chr11:93078025-93078026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570606733	chr11:93078028-93078029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531626439	chr11:93078050-93078051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186245636	chr11:93078117-93078118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567892672	chr11:93078121-93078122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs76638887	chr11:93078132-93078133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs146363243	chr11:93078136-93078137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565849221	chr11:93078146-93078147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs116437107	chr11:93078147-93078148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558131251	chr11:93078191-93078192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190074556	chr11:93078262-93078263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs544076606	chr11:93078314-93078315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556120818	chr11:93078328-93078329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556073949	chr11:93078341-93078342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541659092	chr11:93078345-93078346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs552805448	chr11:93078358-93078359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs371584482	chr11:93078359-93078360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560249975	chr11:93078378-93078379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs527383426	chr11:93078386-93078387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369721998	chr11:93078398-93078399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181279516	chr11:93078470-93078471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs564095232	chr11:93078492-93078493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs531238375	chr11:93078496-93078497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs549636732	chr11:93078544-93078545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs561664152	chr11:93078590-93078591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs555732486	chr11:93078640-93078641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs74871210	chr11:93078728-93078729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185971115	chr11:93078737-93078738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547196020	chr11:93078749-93078750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190840142	chr11:93078766-93078767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	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
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	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
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	CNVD
Cancer	21499728	CNVD
Breast cancer	19181860	CNVD
Breast cancer	17603634	CNVD
Mantle cell lymphoma	19029149	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93064600-93081800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr11:93075800-93077400	Weak transcription	K562	blood
3	chr11:93076000-93077800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:93077400-93078600	Enhancers	K562	blood
5	chr11:93078600-93082000	Weak transcription	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links