Variant report

Variant	esv3393010
Chromosome Location	chr11:121054942-121057940
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 167 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:167 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557020585	chr11:121054971-121054972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575101262	chr11:121054981-121054982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535459201	chr11:121054985-121054986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542619869	chr11:121054988-121054989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188546126	chr11:121055025-121055026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554108878	chr11:121055101-121055102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551694351	chr11:121055109-121055110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs193062953	chr11:121055115-121055116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540419459	chr11:121055135-121055136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184815465	chr11:121055180-121055181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12787375	chr11:121055191-121055192	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs550770905	chr11:121055198-121055199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569349248	chr11:121055205-121055206	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs111982661	chr11:121055215-121055216	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs527840288	chr11:121055277-121055278	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs576219745	chr11:121055283-121055284	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs115404732	chr11:121055288-121055289	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs189376097	chr11:121055364-121055365	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs534956607	chr11:121055368-121055369	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs553312241	chr11:121055414-121055415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201338861	chr11:121055448-121055449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539113041	chr11:121055475-121055476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145308091	chr11:121055487-121055488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192371904	chr11:121055520-121055521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147632429	chr11:121055528-121055529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141553950	chr11:121055590-121055591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554186322	chr11:121055597-121055598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143631930	chr11:121055637-121055638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551086251	chr11:121055643-121055644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs151075962	chr11:121055661-121055662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565260050	chr11:121055674-121055675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529764071	chr11:121055698-121055699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140986493	chr11:121055711-121055712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs481703	chr11:121055740-121055741	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs562820299	chr11:121055768-121055769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530259751	chr11:121055800-121055801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548593117	chr11:121055805-121055806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150254594	chr11:121055826-121055827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527688617	chr11:121055830-121055831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546886916	chr11:121055854-121055855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183630599	chr11:121055900-121055901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538437939	chr11:121055902-121055903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557170334	chr11:121055958-121055959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527592257	chr11:121055967-121055968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs484314	chr11:121055978-121055979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117117457	chr11:121055986-121055987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34973152	chr11:121055989-121055990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535905642	chr11:121055990-121055991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189293726	chr11:121056005-121056006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs377397961	chr11:121056009-121056010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	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
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
Glioblastoma multiforme	21080181	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Ovarian cancer	21720365	CNVD
Neuroblastoma	17327916	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Renal cell carcinoma	21668985	CNVD
Developmental delay	21147756	CNVD
Squamous cell cancer	20885788	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Neurocytoma	17123091	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Central neurocytomas	17123091	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	16750200	CNVD
Multiple myeloma	17550852	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Acute myeloid leukemia	19651601	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	20409316	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Heart disease	20551144	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21509527	CNVD
Barrett''s syndrome	19417022	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21385341	CNVD
Multiple myeloma	16461302	CNVD
Burkitt''s lymphoma	18698080	CNVD
Prostate cancer	23792589	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121039600-121055200	Weak transcription	Ovary	ovary
2	chr11:121051200-121056200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr11:121052800-121065600	Weak transcription	Gastric	stomach
4	chr11:121053400-121057600	Weak transcription	Aorta	Aorta
5	chr11:121053800-121065600	Weak transcription	Pancreas	Pancrea
6	chr11:121054400-121061800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr11:121055200-121055400	ZNF genes & repeats	Ovary	ovary
8	chr11:121055400-121065600	Weak transcription	Ovary	ovary
9	chr11:121055600-121065600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:121056000-121060400	Weak transcription	Brain Anterior Caudate	brain
11	chr11:121056200-121062000	Weak transcription	Fetal Brain Female	brain
12	chr11:121056800-121061800	Weak transcription	Fetal Heart	heart
13	chr11:121056800-121065400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:121056800-121065600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr11:121057600-121058000	Strong transcription	Aorta	Aorta
16	chr11:121057800-121058000	Enhancers	Fetal Lung	lung

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