Variant report

Variant	esv3415063
Chromosome Location	chr11:120978923-120979266
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542033819	chr11:120978927-120978928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs116373866	chr11:120978973-120978974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572294794	chr11:120978976-120978977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1783778	chr11:120978982-120978983	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs371686379	chr11:120978998-120978999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564036292	chr11:120979014-120979015	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531290757	chr11:120979032-120979033	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1783777	chr11:120979036-120979037	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs565423624	chr11:120979047-120979048	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540175497	chr11:120979052-120979053	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529571027	chr11:120979069-120979070	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564482761	chr11:120979100-120979101	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561441051	chr11:120979117-120979118	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113954911	chr11:120979119-120979120	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185501209	chr11:120979124-120979125	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs202061177	chr11:120979173-120979174	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs72336065	chr11:120979178-120979179	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs57043439	chr11:120979179-120979180	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs199917988	chr11:120979181-120979182	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565899286	chr11:120979194-120979195	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189334410	chr11:120979215-120979216	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550255348	chr11:120979234-120979235	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551412108	chr11:120979239-120979240	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs62646299	chr11:120979250-120979251	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570094605	chr11:120979266-120979267	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Autism	22543975	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120942800-120979000	Weak transcription	Aorta	Aorta
2	chr11:120958800-120980600	Weak transcription	Brain Germinal Matrix	brain
3	chr11:120971800-120983600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:120975400-120979400	Weak transcription	Spleen	Spleen
5	chr11:120975800-121005600	Weak transcription	Right Ventricle	heart
6	chr11:120976400-120984200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:120976600-120980000	Weak transcription	Fetal Brain Male	brain
8	chr11:120976600-120982000	Weak transcription	Lung	lung
9	chr11:120976600-120982200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr11:120976600-120982200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr11:120976600-120983200	Weak transcription	Brain Substantia Nigra	brain
12	chr11:120976600-120992200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr11:120976600-120998400	Weak transcription	Brain Anterior Caudate	brain
14	chr11:120976800-120980800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:120976800-120983600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr11:120977200-120979200	Weak transcription	Fetal Lung	lung
17	chr11:120977200-120979200	Weak transcription	Ovary	ovary
18	chr11:120977200-120980400	Weak transcription	Fetal Stomach	stomach
19	chr11:120977600-120980000	Weak transcription	Fetal Muscle Leg	muscle
20	chr11:120977600-120983600	Weak transcription	HSMMtube	muscle
21	chr11:120978000-120980200	Weak transcription	Fetal Brain Female	brain
22	chr11:120978200-120983000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr11:120979000-120980000	Strong transcription	Aorta	Aorta
24	chr11:120979000-120981200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr11:120979200-120979400	Enhancers	Ovary	ovary
26	chr11:120979200-120983600	Enhancers	Fetal Lung	lung

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