Variant report

Variant	esv2456833
Chromosome Location	chr11:83882769-83884212
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	JUN	chr11:83882851-83882904	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAFK	chr11:83883386-83883586	IMR90	lung:	n/a	n/a
3	MAFK	chr11:83883371-83883630	HepG2	liver:	n/a	n/a
4	POLR2A	chr11:83883034-83883181	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:83882213..83884699-chr11:83885574..83887254,2	K562	blood:

Variant related genes	Relation type
DLG2	TF binding region

Extended variants
information (count: 51 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191043664	chr11:83882806-83882807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs139216096	chr11:83882848-83882849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568278258	chr11:83882852-83882853	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs528974398	chr11:83882859-83882860	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs536043210	chr11:83882958-83882959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550212900	chr11:83882998-83882999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568842708	chr11:83883022-83883023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539110542	chr11:83883081-83883082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569796142	chr11:83883098-83883099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183676772	chr11:83883124-83883125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142754219	chr11:83883209-83883210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375043301	chr11:83883231-83883232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1609905	chr11:83883340-83883341	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs534049138	chr11:83883342-83883343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555622544	chr11:83883374-83883375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150734662	chr11:83883412-83883413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535276936	chr11:83883429-83883430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75112648	chr11:83883461-83883462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71468362	chr11:83883479-83883480	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs71468363	chr11:83883488-83883489	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs554025543	chr11:83883498-83883499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569838856	chr11:83883562-83883563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs397832938	chr11:83883592-83883593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201749984	chr11:83883597-83883598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574973385	chr11:83883600-83883601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs67846182	chr11:83883601-83883602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs71066098	chr11:83883603-83883604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1964504	chr11:83883604-83883605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7127625	chr11:83883654-83883655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577587995	chr11:83883655-83883656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540493520	chr11:83883672-83883673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191140315	chr11:83883680-83883681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529404534	chr11:83883688-83883689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550751093	chr11:83883707-83883708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555477099	chr11:83883715-83883716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11828185	chr11:83883718-83883719	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs71468364	chr11:83883735-83883736	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs182978111	chr11:83883741-83883742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566438654	chr11:83883744-83883745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534083950	chr11:83883833-83883834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555661239	chr11:83883890-83883891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7113736	chr11:83883903-83883904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143445304	chr11:83883910-83883911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs60581621	chr11:83883944-83883945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572565582	chr11:83883997-83883998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146249013	chr11:83884019-83884020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555711423	chr11:83884020-83884021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs59898655	chr11:83884095-83884096	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs557885441	chr11:83884110-83884111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577532036	chr11:83884121-83884122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	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
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	20844748	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Colorectal cancer	16912164	CNVD
Mental retardation	17847001	CNVD
Melanoma	19509136	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	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
Cancer	20164920	CNVD
Obesity	20622171	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Developmental delay	21147756	CNVD
Bipolar disorder	19114987	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:83868800-83884200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr11:83875800-83884200	Weak transcription	Brain Substantia Nigra	brain
3	chr11:83877200-83884200	Weak transcription	Brain Angular Gyrus	brain
4	chr11:83877200-83884200	Weak transcription	Brain Hippocampus Middle	brain
5	chr11:83884200-83884400	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr11:83884200-83884800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr11:83884200-83885000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr11:83884200-83885000	Enhancers	Brain Angular Gyrus	brain
9	chr11:83884200-83885000	Enhancers	Brain Anterior Caudate	brain
10	chr11:83884200-83885200	Enhancers	Brain Hippocampus Middle	brain
11	chr11:83884200-83887000	Enhancers	Brain Substantia Nigra	brain

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