Variant report

Variant	esv3510955
Chromosome Location	chr11:57753826-57762624
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 231 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:231 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529736960	chr11:57753828-57753829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533352142	chr11:57753846-57753847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78945376	chr11:57753852-57753853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569922000	chr11:57753916-57753917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144311562	chr11:57753955-57753956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552301654	chr11:57753961-57753962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs117738297	chr11:57753962-57753963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147794995	chr11:57754022-57754023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370110021	chr11:57754041-57754042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553869600	chr11:57754042-57754043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371201700	chr11:57754063-57754064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374777972	chr11:57754100-57754101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554708384	chr11:57754102-57754103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190313232	chr11:57754128-57754129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543765646	chr11:57754131-57754132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559067843	chr11:57754133-57754134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577530561	chr11:57754165-57754166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs80031051	chr11:57754210-57754211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181179579	chr11:57754217-57754218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79220761	chr11:57754221-57754222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79981265	chr11:57754232-57754233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11229195	chr11:57754243-57754244	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs559474763	chr11:57754277-57754278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529855105	chr11:57754306-57754307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536115215	chr11:57754339-57754340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549425364	chr11:57754362-57754363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563139505	chr11:57754373-57754374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370326087	chr11:57754505-57754506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373004983	chr11:57754514-57754515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs386753860	chr11:57754519-57754520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs386753861	chr11:57754532-57754533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376973337	chr11:57754541-57754542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530789653	chr11:57754556-57754557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141381029	chr11:57754578-57754579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570595839	chr11:57754593-57754594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142603669	chr11:57754607-57754608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546425271	chr11:57754614-57754615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565827850	chr11:57754655-57754656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536397406	chr11:57754720-57754721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113101314	chr11:57754726-57754727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569959836	chr11:57754859-57754860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186100776	chr11:57755003-57755004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559010138	chr11:57755010-57755011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577640196	chr11:57755056-57755057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541634233	chr11:57755057-57755058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553648201	chr11:57755073-57755074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574538152	chr11:57755100-57755101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190633067	chr11:57755146-57755147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184224071	chr11:57755155-57755156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563258572	chr11:57755177-57755178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	20067559	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
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57749800-57758800	Weak transcription	HepG2	liver
2	chr11:57758800-57760000	Enhancers	HepG2	liver

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