Variant report

Variant	esv3472075
Chromosome Location	chr11:101072349-101074484
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115091597	chr11:101072421-101072422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147498906	chr11:101072445-101072446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555691509	chr11:101072449-101072450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76100456	chr11:101072460-101072461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188928395	chr11:101072471-101072472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139355459	chr11:101072586-101072587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577637301	chr11:101072593-101072594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543154385	chr11:101072624-101072625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150048552	chr11:101072629-101072630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181982503	chr11:101072634-101072635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564226003	chr11:101072697-101072698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369790932	chr11:101072759-101072760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542261009	chr11:101072784-101072785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551941928	chr11:101072800-101072801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs17737362	chr11:101072805-101072806	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs528792883	chr11:101072829-101072830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546604580	chr11:101072849-101072850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35883926	chr11:101072877-101072878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372991389	chr11:101072878-101072879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4754737	chr11:101072882-101072883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545162692	chr11:101072892-101072893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565361448	chr11:101072982-101072983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12291802	chr11:101073005-101073006	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs371675418	chr11:101073018-101073019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4754738	chr11:101073037-101073038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550805817	chr11:101073092-101073093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12419582	chr11:101073094-101073095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567789245	chr11:101073134-101073135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377607831	chr11:101073147-101073148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547047120	chr11:101073162-101073163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565966241	chr11:101073200-101073201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534934318	chr11:101073207-101073208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560400295	chr11:101073251-101073252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534812611	chr11:101073257-101073258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557884760	chr11:101073294-101073295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529585374	chr11:101073312-101073313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs55963819	chr11:101073345-101073346	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs537291171	chr11:101073402-101073403	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116739378	chr11:101073420-101073421	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569063211	chr11:101073452-101073453	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573429263	chr11:101073471-101073472	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542199832	chr11:101073497-101073498	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538443624	chr11:101073504-101073505	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114043706	chr11:101073508-101073509	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186285834	chr11:101073557-101073558	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144485301	chr11:101073571-101073572	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535748391	chr11:101073575-101073576	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551555631	chr11:101073611-101073612	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1942847	chr11:101073649-101073650	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11224629	chr11:101073672-101073673	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	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
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
Melanoma	22183965	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mantle cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal cancer	21851588	CNVD
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101037400-101080800	Weak transcription	Left Ventricle	heart
2	chr11:101060800-101073800	Weak transcription	Ovary	ovary
3	chr11:101070800-101082200	Weak transcription	Aorta	Aorta
4	chr11:101072200-101073400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr11:101073400-101074200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
6	chr11:101073800-101074800	Strong transcription	Ovary	ovary

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