Variant report

Variant	esv993276
Chromosome Location	chr11:94248944-94251829
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:94251536..94253179-chr11:94279297..94281845,2	MCF-7	breast:
2	chr11:94248605..94250717-chr11:94251159..94253101,2	K562	blood:
3	chr11:94248605..94250717-chr11:94251159..94253101,2	K562	blood:

Extended variants
information (count: 114 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs612075	chr11:94248949-94248950	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs535996681	chr11:94248951-94248952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142732519	chr11:94248952-94248953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371441996	chr11:94248956-94248957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528384838	chr11:94248993-94248994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539773490	chr11:94249030-94249031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557716476	chr11:94249042-94249043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536768	chr11:94249052-94249053	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs191364240	chr11:94249066-94249067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561906644	chr11:94249091-94249092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142715219	chr11:94249119-94249120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs386756336	chr11:94249126-94249127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs612632	chr11:94249128-94249129	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs542009286	chr11:94249206-94249207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183109492	chr11:94249268-94249269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs369327356	chr11:94249281-94249282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs527560356	chr11:94249312-94249313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs72980431	chr11:94249338-94249339	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs34778907	chr11:94249348-94249349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112921217	chr11:94249380-94249381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575844198	chr11:94249520-94249521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs614424	chr11:94249529-94249530	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs188906838	chr11:94249549-94249550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116280065	chr11:94249659-94249660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535196341	chr11:94249710-94249711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547563944	chr11:94249762-94249763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs201259228	chr11:94249795-94249796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565969098	chr11:94249852-94249853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539736358	chr11:94249888-94249889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558079007	chr11:94249907-94249908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576669365	chr11:94249943-94249944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs676521	chr11:94250020-94250021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
33	rs544337	chr11:94250064-94250065	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs372968558	chr11:94250142-94250143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541565206	chr11:94250151-94250152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560372064	chr11:94250152-94250153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572309397	chr11:94250153-94250154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546115354	chr11:94250154-94250155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144169012	chr11:94250199-94250200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148678510	chr11:94250214-94250215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs193062205	chr11:94250275-94250276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12276944	chr11:94250303-94250304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376879157	chr11:94250349-94250350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs628728	chr11:94250379-94250380	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs547207	chr11:94250411-94250412	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs76123940	chr11:94250417-94250418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs629119	chr11:94250446-94250447	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs533305235	chr11:94250451-94250452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs629156	chr11:94250475-94250476	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs570299216	chr11:94250483-94250484	Enhancers 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
Glioblastoma multiforme	21080181	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
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	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
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	CNVD
Cancer	21499728	CNVD
Breast cancer	19181860	CNVD
Breast cancer	17603634	CNVD
Mantle cell lymphoma	19029149	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94246000-94267400	Weak transcription	Aorta	Aorta
2	chr11:94246200-94252800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr11:94246800-94252800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr11:94246800-94252800	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr11:94246800-94259000	Weak transcription	Stomach Mucosa	stomach
6	chr11:94247200-94258800	Weak transcription	Fetal Intestine Small	intestine
7	chr11:94248800-94250800	Enhancers	HepG2	liver
8	chr11:94249800-94250600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:94250200-94250400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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