Variant report

Variant	esv5117
Chromosome Location	chr11:34048504-34048850
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:34040788..34042322-chr11:34047509..34050356,2	K562	blood:
2	chr11:34047888..34049807-chr11:34058557..34060291,2	K562	blood:
3	chr11:34046638..34048627-chr11:34065248..34067644,2	MCF-7	breast:
4	chr11:34048725..34050280-chr11:34056385..34058046,2	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565178524	chr11:34048514-34048515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560726854	chr11:34048517-34048518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529477707	chr11:34048519-34048520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542890753	chr11:34048520-34048521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375241767	chr11:34048535-34048536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200383110	chr11:34048545-34048546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562862215	chr11:34048548-34048549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs62648114	chr11:34048549-34048550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs62648115	chr11:34048550-34048551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571599558	chr11:34048562-34048563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs193241284	chr11:34048568-34048569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185732723	chr11:34048570-34048571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112553108	chr11:34048578-34048579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144307630	chr11:34048580-34048581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs367914951	chr11:34048581-34048582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201168508	chr11:34048588-34048589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201941262	chr11:34048590-34048591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201554152	chr11:34048591-34048592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200168285	chr11:34048596-34048597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527777800	chr11:34048609-34048610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199961671	chr11:34048616-34048617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201125024	chr11:34048618-34048619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs61728612	chr11:34048631-34048632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547610568	chr11:34048635-34048636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190063736	chr11:34048637-34048638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181761352	chr11:34048642-34048643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184757724	chr11:34048645-34048646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560662575	chr11:34048653-34048654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201514217	chr11:34048657-34048658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376006448	chr11:34048672-34048673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370488148	chr11:34048673-34048674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566639449	chr11:34048688-34048689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs28862046	chr11:34048692-34048693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369289603	chr11:34048700-34048701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs367835497	chr11:34048704-34048705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372019824	chr11:34048706-34048707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374506849	chr11:34048707-34048708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528086026	chr11:34048715-34048716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147813130	chr11:34048717-34048718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555667268	chr11:34048719-34048720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74220251	chr11:34048739-34048740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs28768368	chr11:34048748-34048749	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs117224323	chr11:34048759-34048760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372166222	chr11:34048797-34048798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201149685	chr11:34048799-34048800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs61880367	chr11:34048803-34048804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547827286	chr11:34048809-34048810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530066905	chr11:34048836-34048837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568070421	chr11:34048846-34048847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	CNVD
Aniridia syndrome	21572526	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Retinoblastoma	22278416	CNVD
Denys-drash syndrome	21085971	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
WAGR syndrome	16773131	CNVD
Disorders of sex development	22290220	CNVD
Aniridia syndrome	17204608	CNVD
Mental retardation	17204608	CNVD
WAGR syndrome	19617690	CNVD
genitourinary abnormalities	17204608	CNVD
Breast cancer	16397240	CNVD
Mental retardation	16773131	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Cancer	21183584	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
WAGR syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Denys-drash syndrome	19566914	CNVD
Familial wilms tumor	19566914	CNVD
Frasier syndrome	19566914	CNVD
Non-small cell lung cancer	21829676	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Breast cancer	16620391	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34041400-34048800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:34046600-34049400	Weak transcription	Aorta	Aorta
3	chr11:34047600-34048800	Weak transcription	Fetal Intestine Small	intestine
4	chr11:34047800-34048800	Weak transcription	Liver	Liver
5	chr11:34048800-34049200	Enhancers	Liver	Liver
6	chr11:34048800-34049400	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr11:34048800-34049600	Enhancers	H9 Cell Line	embryonic stem cell
8	chr11:34048800-34050200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:34048800-34050400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:34048800-34050400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:34048800-34050400	Enhancers	Pancreas	Pancrea
12	chr11:34048800-34050600	Enhancers	Fetal Intestine Small	intestine
13	chr11:34048800-34052400	Enhancers	Cortex derived primary cultured neurospheres	brain

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