Variant report

Variant	esv3478908
Chromosome Location	chr11:121056063-121056842
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549771138	chr11:121056065-121056066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs74790858	chr11:121056084-121056085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558818	chr11:121056092-121056093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs485285	chr11:121056094-121056095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201062842	chr11:121056098-121056099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112713076	chr11:121056105-121056106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199590493	chr11:121056119-121056120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77493898	chr11:121056127-121056128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373883854	chr11:121056129-121056130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs55751521	chr11:121056140-121056141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs75231882	chr11:121056141-121056142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs485466	chr11:121056154-121056155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549916594	chr11:121056162-121056163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74880625	chr11:121056164-121056165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs202242930	chr11:121056170-121056171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12801565	chr11:121056189-121056190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs470134	chr11:121056197-121056198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369876167	chr11:121056205-121056206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147261613	chr11:121056211-121056212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558971628	chr11:121056228-121056229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74203531	chr11:121056242-121056243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374276310	chr11:121056243-121056244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs71473184	chr11:121056244-121056245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs512821	chr11:121056245-121056246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2850315	chr11:121056246-121056247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577494776	chr11:121056249-121056250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs3016531	chr11:121056255-121056256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs71486359	chr11:121056267-121056268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527692416	chr11:121056269-121056270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377261096	chr11:121056275-121056276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs61901228	chr11:121056302-121056303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370528314	chr11:121056310-121056311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs613763	chr11:121056329-121056330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371205767	chr11:121056337-121056338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs512549	chr11:121056339-121056340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs614292	chr11:121056372-121056373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2847389	chr11:121056385-121056386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs56177612	chr11:121056395-121056396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs513936	chr11:121056407-121056408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2509188	chr11:121056409-121056410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs386578578	chr11:121056430-121056431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537776122	chr11:121056442-121056443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs613868	chr11:121056469-121056470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200473189	chr11:121056476-121056477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368770920	chr11:121056512-121056513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs58298349	chr11:121056547-121056548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs199688424	chr11:121056574-121056575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78471820	chr11:121056582-121056583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11518392	chr11:121056617-121056618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373256344	chr11:121056625-121056626	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:12 , 50 per page) page: 1

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

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