Variant report

Variant	esv3385560
Chromosome Location	chr11:92956504-92958602
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:92958484-92959497	SK-N-SH	brain:	n/a	chr11:92958984-92959005 chr11:92958996-92959003 chr11:92958989-92959007
2	E2F6	chr11:92957622-92957872	H1-hESC	embryonic stem cell:	n/a	n/a
3	E2F6	chr11:92957484-92957917	H1-hESC	embryonic stem cell:	n/a	n/a
4	JUND	chr11:92957624-92957711	K562	blood:	n/a	n/a
5	MAX	chr11:92957593-92957840	H1-hESC	embryonic stem cell:	n/a	chr11:92957691-92957700 chr11:92957729-92957740 chr11:92957730-92957740 chr11:92957691-92957701
6	MAX	chr11:92957514-92957902	H1-hESC	embryonic stem cell:	n/a	chr11:92957691-92957700 chr11:92957729-92957740 chr11:92957730-92957740 chr11:92957691-92957701
7	MAX	chr11:92957529-92957936	H1-hESC	embryonic stem cell:	n/a	chr11:92957691-92957700 chr11:92957729-92957740 chr11:92957730-92957740 chr11:92957691-92957701
8	MAX	chr11:92957647-92957846	NB4	blood:	n/a	chr11:92957691-92957700 chr11:92957729-92957740 chr11:92957730-92957740 chr11:92957691-92957701
9	POLR2A	chr11:92957376-92957473	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr11:92957732-92957749	A549	lung:	n/a	n/a
11	POLR2A	chr11:92957687-92957728	A549	lung:	n/a	n/a
12	RAD21	chr11:92958570-92959460	SK-N-SH	brain:	n/a	chr11:92958987-92959006 chr11:92958996-92959005
13	SMC3	chr11:92958415-92959479	SK-N-SH	brain:	n/a	chr11:92958991-92959005
14	USF1	chr11:92957593-92957917	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:92674857..92675942-chr11:92958477..92959471,4	K562	blood:
2	chr11:92862981..92865243-chr11:92958375..92960659,2	MCF-7	breast:
3	chr11:92864615..92865138-chr11:92958534..92959079,2	K562	blood:
4	chr11:92674953..92675677-chr11:92958460..92959354,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233737	TF binding region

Extended variants
information (count: 100 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536625778	chr11:92956515-92956516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555146652	chr11:92956613-92956614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569101899	chr11:92956624-92956625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs117604335	chr11:92956628-92956629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537739044	chr11:92956634-92956635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545522709	chr11:92956755-92956756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540325414	chr11:92956769-92956770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142500726	chr11:92956774-92956775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577335554	chr11:92956788-92956789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544516672	chr11:92956792-92956793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562823046	chr11:92956797-92956798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146591983	chr11:92956810-92956811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79149612	chr11:92956826-92956827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560682708	chr11:92956827-92956828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs36110955	chr11:92956844-92956845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs16918677	chr11:92956873-92956874	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs546350484	chr11:92956918-92956919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187417577	chr11:92956963-92956964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534050414	chr11:92956985-92956986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190488274	chr11:92957022-92957023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550921458	chr11:92957074-92957075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569168755	chr11:92957109-92957110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536684436	chr11:92957122-92957123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183021015	chr11:92957137-92957138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554956135	chr11:92957166-92957167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573106428	chr11:92957170-92957171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187602854	chr11:92957173-92957174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558745609	chr11:92957194-92957195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368178820	chr11:92957210-92957211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201634642	chr11:92957214-92957215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139461402	chr11:92957245-92957246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370564758	chr11:92957246-92957247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577397749	chr11:92957247-92957248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373700763	chr11:92957253-92957254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11020203	chr11:92957254-92957255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375775168	chr11:92957255-92957256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553942005	chr11:92957267-92957268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79778835	chr11:92957269-92957270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs28697917	chr11:92957276-92957277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377295899	chr11:92957279-92957280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs199928256	chr11:92957288-92957289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs58454053	chr11:92957297-92957298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375216016	chr11:92957298-92957299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368259893	chr11:92957299-92957300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11020204	chr11:92957319-92957320	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs11020205	chr11:92957326-92957327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144704201	chr11:92957338-92957339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576852336	chr11:92957344-92957345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113285473	chr11:92957357-92957358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201841237	chr11:92957358-92957359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Prostate cancer	18632612	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

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:92955200-92962200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr11:92958200-92959200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr11:92958400-92958800	Enhancers	Brain Germinal Matrix	brain
4	chr11:92958600-92959000	Enhancers	Fetal Brain Male	brain

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