Variant report

Variant	esv3403739
Chromosome Location	chr11:59816476-59820674
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	chr11:59818235-59818293	GM10248	blood:	n/a	n/a
2	CTCF	chr11:59819883-59819909	GM20000	blood:	n/a	n/a
3	POLR2A	chr11:59820110-59820111	GM12878	blood:	n/a	n/a
4	POLR2A	chr11:59820230-59820263	GM12878	blood:	n/a	n/a
5	SPI1	chr11:59818012-59818224	GM12891	blood:	n/a	n/a
6	SPI1	chr11:59818066-59818226	GM12878	blood:	n/a	n/a
7	SPI1	chr11:59818065-59818162	K562	blood:	n/a	n/a
8	SPI1	chr11:59818059-59818206	K562	blood:	n/a	n/a
9	STAT3	chr11:59819332-59819599	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
MS4A3	TF binding region

Extended variants
information (count: 151 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:151 , 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	rs61903634	chr11:59816521-59816522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs10431134	chr11:59816639-59816640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372096882	chr11:59816674-59816675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200986428	chr11:59816740-59816741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201899126	chr11:59816963-59816964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs61903635	chr11:59816967-59816968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373771364	chr11:59817028-59817029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375003134	chr11:59817072-59817073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369019822	chr11:59817097-59817098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372958404	chr11:59817143-59817144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377139758	chr11:59817171-59817172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370871464	chr11:59817183-59817184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373102740	chr11:59817191-59817192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376127240	chr11:59817205-59817206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371039810	chr11:59817236-59817237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375440498	chr11:59817282-59817283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372830792	chr11:59817327-59817328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs367772745	chr11:59817345-59817346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370351282	chr11:59817349-59817350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374073230	chr11:59817440-59817441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs367986477	chr11:59817461-59817462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1286275	chr11:59817496-59817497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377100910	chr11:59817549-59817550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368214815	chr11:59817619-59817620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570304427	chr11:59817637-59817638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1286276	chr11:59817661-59817662	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs376684231	chr11:59817664-59817665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369068414	chr11:59817684-59817685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565956999	chr11:59817687-59817688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373058919	chr11:59817725-59817726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536479746	chr11:59817728-59817729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183660511	chr11:59817747-59817748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576170262	chr11:59817786-59817787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375032169	chr11:59817920-59817921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537145979	chr11:59817956-59817957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369258101	chr11:59818017-59818018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558914876	chr11:59818020-59818021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577123939	chr11:59818077-59818078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188327293	chr11:59818106-59818107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559711079	chr11:59818132-59818133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574768216	chr11:59818162-59818163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529851670	chr11:59818173-59818174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1286277	chr11:59818185-59818186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563466905	chr11:59818223-59818224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376267499	chr11:59818272-59818273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530630557	chr11:59818276-59818277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551942497	chr11:59818315-59818316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1286278	chr11:59818347-59818348	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs61903636	chr11:59818390-59818391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528049352	chr11:59818403-59818404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Lung adenocarcinoma	17086460	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59813800-59822400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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