Variant report

Variant	esv3322405
Chromosome Location	chr11:109020592-109021690
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556224775	chr11:109020597-109020598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565635600	chr11:109020651-109020652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376916228	chr11:109020653-109020654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545082485	chr11:109020697-109020698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539422450	chr11:109020762-109020763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560342927	chr11:109020791-109020792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527876119	chr11:109020822-109020823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549449242	chr11:109020857-109020858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561585647	chr11:109020890-109020891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531210263	chr11:109020894-109020895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10789716	chr11:109020953-109020954	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs139358890	chr11:109020955-109020956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565324617	chr11:109020997-109020998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571383177	chr11:109021031-109021032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs143265893	chr11:109021059-109021060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547496170	chr11:109021086-109021087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs147535058	chr11:109021167-109021168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564781336	chr11:109021227-109021228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139766787	chr11:109021244-109021245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536437210	chr11:109021248-109021249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554576198	chr11:109021259-109021260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569886174	chr11:109021267-109021268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs138334417	chr11:109021337-109021338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374710832	chr11:109021352-109021353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556554069	chr11:109021385-109021386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569745612	chr11:109021426-109021427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373166827	chr11:109021429-109021430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10890953	chr11:109021511-109021512	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs545144424	chr11:109021515-109021516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556652476	chr11:109021521-109021522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371404978	chr11:109021580-109021581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553837225	chr11:109021581-109021582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547904955	chr11:109021612-109021613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568949567	chr11:109021656-109021657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	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
Chronic lymphocytic leukemia	21546498	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
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
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
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
Prostate cancer	18632612	CNVD
Renal cell carcinoma	21668985	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21509527	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:109012000-109021200	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr11:109012000-109021400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr11:109019000-109020600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr11:109020200-109021200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:109020600-109021000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr11:109021000-109021200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:109021000-109021600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr11:109021200-109021400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:109021200-109021600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:109021200-109021600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr11:109021200-109021600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr11:109021400-109021600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:109021400-109021600	Enhancers	Aorta	Aorta
14	chr11:109021400-109021800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr11:109021400-109022200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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