Variant report

Variant	nsv556195
Chromosome Location	chr11:104267449-104272940
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	chr11:104266914..104269126-chr11:104273371..104275072,3	K562	blood:

Extended variants
information (count: 143 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4755029	chr11:104267449-104267450	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs531934931	chr11:104267455-104267456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs11425883	chr11:104267470-104267471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs397973576	chr11:104267472-104267473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373812309	chr11:104267560-104267561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547499416	chr11:104267598-104267599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138089419	chr11:104267600-104267601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562153130	chr11:104267617-104267618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527929128	chr11:104267645-104267646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567234125	chr11:104267747-104267748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368323719	chr11:104267752-104267753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs372328045	chr11:104267753-104267754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374672389	chr11:104267754-104267755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs113070442	chr11:104267930-104267931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533330084	chr11:104267942-104267943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116476898	chr11:104267944-104267945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200203704	chr11:104267960-104267961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375001388	chr11:104267961-104267962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs386374744	chr11:104267963-104267964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10635150	chr11:104267964-104267965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188142443	chr11:104268024-104268025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373834828	chr11:104268026-104268027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192887455	chr11:104268028-104268029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375694813	chr11:104268036-104268037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549296813	chr11:104268076-104268077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs71464733	chr11:104268095-104268096	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs182695531	chr11:104268111-104268112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186567506	chr11:104268128-104268129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs367869542	chr11:104268136-104268137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370578771	chr11:104268177-104268178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527644099	chr11:104268218-104268219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565557037	chr11:104268222-104268223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527631933	chr11:104268223-104268224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75422382	chr11:104268259-104268260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373697430	chr11:104268263-104268264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11602131	chr11:104268265-104268266	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs368494056	chr11:104268295-104268296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs114591178	chr11:104268324-104268325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192573541	chr11:104268396-104268397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375567447	chr11:104268531-104268532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542149554	chr11:104268562-104268563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7933741	chr11:104268565-104268566	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs142567257	chr11:104268683-104268684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114411791	chr11:104268717-104268718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145991809	chr11:104268718-104268719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533269610	chr11:104268723-104268724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558417414	chr11:104268748-104268749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550107119	chr11:104268799-104268800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12417906	chr11:104268822-104268823	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs529332990	chr11:104268913-104268914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
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
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
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Melanoma	17363583	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mantle cell lymphoma	19029149	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Obesity	19966786	CNVD
Tetralogy of Fallot	22912587	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104265200-104267800	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr11:104266400-104267800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:104266600-104267800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr11:104266800-104267800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr11:104267000-104267600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr11:104267000-104267600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr11:104267400-104271600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr11:104267600-104273200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr11:104267600-104273400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr11:104267800-104273200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr11:104267800-104273200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr11:104267800-104273200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr11:104271600-104272000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr11:104272000-104273400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr11:104272200-104273600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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