Variant report

Variant	esv14634
Chromosome Location	chr11:83532806-83538775
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:83538716..83539440-chr11:84254537..84255078,2	MCF-7	breast:
2	chr11:82964651..82967620-chr11:83532923..83535009,2	MCF-7	breast:
3	chr11:83527114..83529633-chr11:83531470..83533535,2	K562	blood:

Extended variants
information (count: 230 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:230 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79963321	chr11:83532835-83532836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12295948	chr11:83532857-83532858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547140406	chr11:83532876-83532877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540312093	chr11:83532881-83532882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1516623	chr11:83532889-83532890	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs76472724	chr11:83532910-83532911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs118086238	chr11:83532930-83532931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11826877	chr11:83532940-83532941	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs533079513	chr11:83532947-83532948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574866742	chr11:83533024-83533025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551114952	chr11:83533035-83533036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143136112	chr11:83533037-83533038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373834515	chr11:83533038-83533039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190618337	chr11:83533070-83533071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547068588	chr11:83533096-83533097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558696252	chr11:83533120-83533121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568491492	chr11:83533127-83533128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs61546028	chr11:83533143-83533144	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs183818212	chr11:83533274-83533275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116867007	chr11:83533337-83533338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540144259	chr11:83533352-83533353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558526158	chr11:83533361-83533362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186286391	chr11:83533415-83533416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534154995	chr11:83533440-83533441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555424279	chr11:83533442-83533443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191533640	chr11:83533443-83533444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112845810	chr11:83533457-83533458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182435406	chr11:83533499-83533500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562148043	chr11:83533507-83533508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577475717	chr11:83533551-83533552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544894231	chr11:83533574-83533575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560235254	chr11:83533583-83533584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377594576	chr11:83533589-83533590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35355907	chr11:83533591-83533592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs117323256	chr11:83533642-83533643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115153439	chr11:83533675-83533676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554518946	chr11:83533707-83533708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562180262	chr11:83533724-83533725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186689505	chr11:83533733-83533734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138779356	chr11:83533772-83533773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569262661	chr11:83533828-83533829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142482754	chr11:83533852-83533853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115945452	chr11:83533868-83533869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546486856	chr11:83533878-83533879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192313948	chr11:83533891-83533892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7108986	chr11:83533903-83533904	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs146522109	chr11:83533962-83533963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555704734	chr11:83533969-83533970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573633404	chr11:83534004-83534005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371705324	chr11:83534038-83534039	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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:83526800-83534600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr11:83527800-83539200	Weak transcription	Brain Angular Gyrus	brain
3	chr11:83529600-83534600	Weak transcription	NH-A	brain
4	chr11:83529800-83537800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr11:83530200-83534600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:83531000-83534800	Weak transcription	Brain Hippocampus Middle	brain
7	chr11:83531000-83536800	Weak transcription	Brain Substantia Nigra	brain
8	chr11:83531600-83534800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr11:83532200-83534600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr11:83534600-83535000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr11:83534600-83535000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr11:83534600-83535000	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr11:83534600-83535000	Enhancers	NH-A	brain
14	chr11:83534600-83535200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:83534600-83535200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:83534600-83535200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr11:83534600-83535200	Enhancers	HUVEC	blood vessel
18	chr11:83534800-83535200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr11:83534800-83535200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:83534800-83535400	Enhancers	Brain Cingulate Gyrus	brain
21	chr11:83534800-83535600	Enhancers	Brain Hippocampus Middle	brain
22	chr11:83535000-83535200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:83535000-83535200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr11:83535000-83537800	Weak transcription	NH-A	brain
25	chr11:83535000-83538800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr11:83535000-83546600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:83535200-83536600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:83535200-83536600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr11:83535200-83537200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr11:83535400-83539000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr11:83535600-83538800	Weak transcription	Brain Hippocampus Middle	brain
32	chr11:83536600-83537000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:83536600-83538400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:83536800-83537400	Enhancers	Brain Substantia Nigra	brain
35	chr11:83537200-83538000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:83537200-83538400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr11:83537400-83539200	Weak transcription	Brain Substantia Nigra	brain
38	chr11:83537800-83538400	Enhancers	Osteobl	bone
39	chr11:83537800-83538600	Enhancers	NH-A	brain
40	chr11:83537800-83538800	Enhancers	Muscle Satellite Cultured Cells	--
41	chr11:83537800-83539800	Enhancers	NHDF-Ad	bronchial
42	chr11:83538000-83538600	Enhancers	NHLF	lung
43	chr11:83538000-83538800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:83538000-83539200	Enhancers	Brain Anterior Caudate	brain
45	chr11:83538000-83539600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr11:83538200-83539400	Enhancers	HSMM	muscle
47	chr11:83538400-83538600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr11:83538400-83538600	Flanking Active TSS	Osteobl	bone
49	chr11:83538400-83538800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr11:83538400-83539000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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