Variant report

Variant	nsv826056
Chromosome Location	chr11:100540362-100544479
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:100539958..100542554-chr11:100542689..100545080,3	MCF-7	breast:
2	chr11:100539958..100542554-chr11:100542689..100545080,3	MCF-7	breast:
3	chr11:100500501..100502106-chr11:100540054..100542243,2	MCF-7	breast:

Extended variants
information (count: 156 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:156 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561519915	chr11:100540373-100540374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs80020768	chr11:100540494-100540495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs671220	chr11:100540513-100540514	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs560309186	chr11:100540533-100540534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11224373	chr11:100540536-100540537	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs552430636	chr11:100540567-100540568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369278289	chr11:100540570-100540571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114877101	chr11:100540574-100540575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187389754	chr11:100540578-100540579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs377046637	chr11:100540610-100540611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567185599	chr11:100540641-100540642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536175913	chr11:100540646-100540647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371085472	chr11:100540648-100540649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs142761250	chr11:100540688-100540689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566380827	chr11:100540703-100540704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191948386	chr11:100540745-100540746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558734599	chr11:100540778-100540779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575415048	chr11:100540787-100540788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538401706	chr11:100540838-100540839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555218343	chr11:100540848-100540849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539188934	chr11:100540888-100540889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145161120	chr11:100540889-100540890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs545769436	chr11:100540908-100540909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554093497	chr11:100540911-100540912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs3958711	chr11:100540928-100540929	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs540604071	chr11:100540956-100540957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs560528111	chr11:100540967-100540968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577214425	chr11:100540980-100540981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs75153381	chr11:100540989-100540990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs673536	chr11:100541050-100541051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562599447	chr11:100541054-100541055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536331418	chr11:100541066-100541067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs182996586	chr11:100541074-100541075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs543972869	chr11:100541087-100541088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560774856	chr11:100541094-100541095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146951073	chr11:100541114-100541115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546620253	chr11:100541121-100541122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs694878	chr11:100541127-100541128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs376983757	chr11:100541131-100541132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185874230	chr11:100541167-100541168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531967876	chr11:100541173-100541174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs552211731	chr11:100541186-100541187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536043423	chr11:100541208-100541209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs568938376	chr11:100541271-100541272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs537962029	chr11:100541279-100541280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs12577659	chr11:100541340-100541341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs61090250	chr11:100541348-100541349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555179723	chr11:100541353-100541354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs3990358	chr11:100541354-100541355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs72370957	chr11:100541355-100541356	Weak transcription Enhancers	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
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
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mantle cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100535000-100541000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:100535200-100541400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr11:100535200-100547400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr11:100537200-100547400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr11:100537600-100547600	Weak transcription	K562	blood
6	chr11:100539000-100543000	Weak transcription	Liver	Liver
7	chr11:100540400-100541400	Enhancers	Placenta	Placenta
8	chr11:100541000-100541400	Enhancers	H9 Cell Line	embryonic stem cell
9	chr11:100541400-100541600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr11:100541400-100541800	Weak transcription	Placenta	Placenta
11	chr11:100541400-100551800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr11:100541600-100542200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr11:100541800-100542000	Enhancers	Placenta	Placenta
14	chr11:100542000-100546000	Weak transcription	Placenta	Placenta
15	chr11:100542200-100542400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr11:100542400-100543000	Enhancers	NHLF	lung
17	chr11:100542400-100547400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr11:100542800-100544400	Enhancers	Fetal Lung	lung
19	chr11:100543000-100543400	Weak transcription	NHLF	lung
20	chr11:100543000-100544000	Enhancers	Fetal Stomach	stomach
21	chr11:100543000-100544800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr11:100543000-100544800	Enhancers	Liver	Liver
23	chr11:100543000-100545600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr11:100543200-100544800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:100543400-100543600	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr11:100543400-100544200	Enhancers	NHLF	lung
27	chr11:100543400-100544600	Enhancers	Stomach Smooth Muscle	stomach
28	chr11:100543600-100552200	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr11:100543800-100544600	Enhancers	Fetal Kidney	kidney
30	chr11:100544400-100546000	Weak transcription	Fetal Lung	lung

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