Variant report

Variant	esv15304
Chromosome Location	chr11:83464992-83467903
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:83465597..83467714-chr11:83469852..83471903,2	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544704157	chr11:83465003-83465004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556625998	chr11:83465038-83465039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200726094	chr11:83465090-83465091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557455006	chr11:83465095-83465096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191290218	chr11:83465106-83465107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546130484	chr11:83465118-83465119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564322862	chr11:83465191-83465192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183045168	chr11:83465234-83465235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540557780	chr11:83465278-83465279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs17548479	chr11:83465336-83465337	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs529419097	chr11:83465396-83465397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11233740	chr11:83465413-83465414	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs139101754	chr11:83465451-83465452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187693354	chr11:83465535-83465536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191274740	chr11:83465563-83465564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551625252	chr11:83465622-83465623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533811645	chr11:83465669-83465670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560580675	chr11:83465739-83465740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527887468	chr11:83465748-83465749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542897877	chr11:83465779-83465780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555669628	chr11:83465781-83465782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567579282	chr11:83465863-83465864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149894344	chr11:83465891-83465892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183759689	chr11:83465908-83465909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577818163	chr11:83465941-83465942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571500303	chr11:83466001-83466002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531338267	chr11:83466028-83466029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549442600	chr11:83466120-83466121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558268197	chr11:83466192-83466193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13377524	chr11:83466233-83466234	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs13377219	chr11:83466265-83466266	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs562010568	chr11:83466298-83466299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529553018	chr11:83466353-83466354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557238116	chr11:83466397-83466398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544354289	chr11:83466413-83466414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187699829	chr11:83466476-83466477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147140777	chr11:83466518-83466519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573969615	chr11:83466541-83466542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551167114	chr11:83466557-83466558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs80288861	chr11:83466570-83466571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144558536	chr11:83466643-83466644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78718042	chr11:83466655-83466656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567518952	chr11:83466664-83466665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192616900	chr11:83466666-83466667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565884180	chr11:83466709-83466710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs17482676	chr11:83466751-83466752	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs201877736	chr11:83466774-83466775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571340325	chr11:83466810-83466811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141486480	chr11:83466832-83466833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149608828	chr11:83466833-83466834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	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
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	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
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	20844748	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Colorectal cancer	16912164	CNVD
Mental retardation	17847001	CNVD
Melanoma	19509136	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Cancer	20164920	CNVD
Obesity	20622171	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Developmental delay	21147756	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:83460800-83471800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr11:83461200-83472000	Weak transcription	Brain Inferior Temporal Lobe	brain

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