Variant report

Variant	nsv511481
Chromosome Location	chr11:104265055-104273524
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:104258415..104260627-chr11:104273421..104275003,2	K562	blood:
2	chr11:104266914..104269126-chr11:104273371..104275072,3	K562	blood:
3	chr11:104266914..104269126-chr11:104273371..104275072,3	K562	blood:
4	chr11:104263922..104265459-chr11:104276498..104278542,2	K562	blood:

Extended variants
information (count: 261 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:261 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10895675	chr11:104265055-104265056	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574363435	chr11:104265076-104265077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs147742420	chr11:104265132-104265133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546056454	chr11:104265148-104265149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562536655	chr11:104265160-104265161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374054345	chr11:104265240-104265241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142545129	chr11:104265246-104265247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189469999	chr11:104265272-104265273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548381153	chr11:104265283-104265284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192416074	chr11:104265317-104265318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs114521987	chr11:104265345-104265346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146664656	chr11:104265372-104265373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs71484355	chr11:104265383-104265384	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs538812148	chr11:104265398-104265399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138033154	chr11:104265411-104265412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569206220	chr11:104265459-104265460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142027859	chr11:104265491-104265492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529452875	chr11:104265492-104265493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7121183	chr11:104265494-104265495	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs184419951	chr11:104265531-104265532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531367629	chr11:104265579-104265580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368056716	chr11:104265600-104265601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188771828	chr11:104265671-104265672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368345273	chr11:104265682-104265683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181374572	chr11:104265684-104265685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs372830113	chr11:104265696-104265697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs545993387	chr11:104265700-104265701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186519650	chr11:104265702-104265703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569166361	chr11:104265720-104265721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10750698	chr11:104265742-104265743	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs571385509	chr11:104265804-104265805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs143070852	chr11:104265824-104265825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs527261638	chr11:104265860-104265861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547002967	chr11:104265908-104265909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs11823355	chr11:104265921-104265922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs148201317	chr11:104265937-104265938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533833381	chr11:104265980-104265981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532667686	chr11:104265990-104265991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147073750	chr11:104265999-104266000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs373108320	chr11:104266002-104266003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs189799707	chr11:104266015-104266016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569426868	chr11:104266023-104266024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs7107981	chr11:104266029-104266030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185995660	chr11:104266052-104266053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs568497585	chr11:104266128-104266129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs11226343	chr11:104266131-104266132	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs112190012	chr11:104266132-104266133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs191114872	chr11:104266149-104266150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs183263879	chr11:104266273-104266274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs12271564	chr11:104266294-104266295	Weak transcription Enhancers	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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104264800-104265400	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr11:104265000-104265200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr11:104265200-104265400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr11:104265200-104265400	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr11:104265200-104266000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr11:104265200-104267000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr11:104265200-104267800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr11:104265400-104266800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr11:104265600-104266600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr11:104266400-104267800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:104266600-104267800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr11:104266800-104267800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr11:104267000-104267400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:104267000-104267600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr11:104267000-104267600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr11:104267400-104271600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr11:104267600-104273200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr11:104267600-104273400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr11:104267800-104273200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr11:104267800-104273200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr11:104267800-104273200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr11:104271600-104272000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr11:104272000-104273400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr11:104272200-104273600	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr11:104273200-104273400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr11:104273200-104273600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr11:104273200-104274000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr11:104273200-104276000	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr11:104273400-104273600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr11:104273400-104273600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr11:104273400-104273600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:104273400-104273800	Enhancers	H1 Cell Line	embryonic stem cell
33	chr11:104273400-104274000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr11:104273400-104274200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr11:104273400-104274400	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr11:104273400-104274400	Enhancers	Stomach Mucosa	stomach
37	chr11:104273400-104275000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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