Variant report

Variant	esv1809938
Chromosome Location	chr11:83716145-83789540
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:83715504..83717050-chr11:83718239..83720670,2	K562	blood:
2	chr11:83715504..83717050-chr11:83718239..83720670,2	K562	blood:
3	chr11:83708534..83710057-chr11:83729711..83731527,2	K562	blood:
4	chr11:83757394..83757894-chr8:43092430..43092931,2	MCF-7	breast:
5	chr11:83756394..83757894-chr8:43091429..43092930,2	MCF-7	breast:

Extended variants
information (count: 2288 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:2288 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1905325	chr11:83716145-83716146	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555817996	chr11:83716164-83716165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574534240	chr11:83716169-83716170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1905326	chr11:83716175-83716176	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs538163350	chr11:83716191-83716192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538764208	chr11:83716238-83716239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112984967	chr11:83716253-83716254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs578143529	chr11:83716262-83716263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs72949818	chr11:83716282-83716283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75391657	chr11:83716300-83716301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111261112	chr11:83716316-83716317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184774761	chr11:83716396-83716397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571823253	chr11:83716412-83716413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572492230	chr11:83716420-83716421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139620724	chr11:83716421-83716422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114892915	chr11:83716514-83716515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2374467	chr11:83716566-83716567	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs565088366	chr11:83716659-83716660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35861377	chr11:83716681-83716682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548982731	chr11:83716690-83716691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532238418	chr11:83716724-83716725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576856863	chr11:83716741-83716742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs80085352	chr11:83716826-83716827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566940244	chr11:83716844-83716845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76161957	chr11:83716871-83716872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78222689	chr11:83716881-83716882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534287881	chr11:83716885-83716886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544086791	chr11:83716898-83716899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189577723	chr11:83716944-83716945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75556939	chr11:83716946-83716947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538527420	chr11:83716947-83716948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs367820760	chr11:83716954-83716955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149730197	chr11:83717097-83717098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12797177	chr11:83717106-83717107	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs538821874	chr11:83717109-83717110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553967886	chr11:83717181-83717182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs180702012	chr11:83717182-83717183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540790999	chr11:83717187-83717188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560539122	chr11:83717214-83717215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183591188	chr11:83717223-83717224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534963305	chr11:83717239-83717240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs79956899	chr11:83717247-83717248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145557934	chr11:83717270-83717271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188327952	chr11:83717285-83717286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558990098	chr11:83717287-83717288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149172964	chr11:83717297-83717298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527775885	chr11:83717318-83717319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75261048	chr11:83717425-83717426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs76213376	chr11:83717453-83717454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34128815	chr11:83717482-83717483	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:79)

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

Chromatin state (count:212 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:83714800-83723200	Weak transcription	Brain Hippocampus Middle	brain
2	chr11:83718800-83719000	Enhancers	Brain Angular Gyrus	brain
3	chr11:83719000-83722800	Weak transcription	Brain Angular Gyrus	brain
4	chr11:83720200-83720800	Enhancers	Brain Substantia Nigra	brain
5	chr11:83720600-83723800	Enhancers	Brain Anterior Caudate	brain
6	chr11:83720800-83722600	Weak transcription	Brain Substantia Nigra	brain
7	chr11:83721400-83721600	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr11:83721600-83721800	Enhancers	Brain Cingulate Gyrus	brain
9	chr11:83721600-83722600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr11:83722000-83723200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr11:83722600-83723800	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr11:83722600-83723800	Enhancers	Brain Substantia Nigra	brain
13	chr11:83722600-83724400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:83722800-83723600	Enhancers	Brain Angular Gyrus	brain
15	chr11:83723200-83723800	Enhancers	Brain Cingulate Gyrus	brain
16	chr11:83723200-83723800	Enhancers	Brain Hippocampus Middle	brain
17	chr11:83723200-83723800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr11:83723200-83723800	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr11:83723200-83724400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr11:83723200-83724400	Enhancers	Colon Smooth Muscle	Colon
21	chr11:83723400-83723600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:83723400-83723600	Enhancers	Liver	Liver
23	chr11:83723400-83723600	Enhancers	Stomach Smooth Muscle	stomach
24	chr11:83723400-83723800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr11:83723400-83723800	Enhancers	Ovary	ovary
26	chr11:83723400-83724000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:83723400-83724200	Enhancers	Rectal Smooth Muscle	rectum
28	chr11:83723600-83731400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:83723800-83728200	Weak transcription	Brain Hippocampus Middle	brain
30	chr11:83723800-83730200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr11:83723800-83730600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr11:83723800-83730600	Weak transcription	Brain Substantia Nigra	brain
33	chr11:83724200-83731000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr11:83724400-83730200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr11:83724600-83725600	Weak transcription	Liver	Liver
36	chr11:83725600-83725800	Enhancers	Liver	Liver
37	chr11:83728200-83733200	Enhancers	Brain Hippocampus Middle	brain
38	chr11:83730200-83730800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr11:83730200-83730800	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr11:83730200-83731400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr11:83730200-83733600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:83730400-83730800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:83730400-83731200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr11:83730400-83731200	Enhancers	NH-A	brain
45	chr11:83730400-83731800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:83730600-83732000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr11:83730600-83733600	Enhancers	Brain Angular Gyrus	brain
48	chr11:83730600-83734000	Enhancers	Brain Substantia Nigra	brain
49	chr11:83730600-83734400	Enhancers	Brain Cingulate Gyrus	brain
50	chr11:83730800-83731000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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