Variant report

Variant	nsv898023
Chromosome Location	chr11:83566115-83602367
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:83571091..83572760-chr11:83577479..83580150,2	K562	blood:
2	chr11:83571091..83572760-chr11:83577479..83580150,2	K562	blood:
3	chr11:83571260..83574141-chr11:83577479..83579450,2	K562	blood:
4	chr11:83571260..83574141-chr11:83577479..83579450,2	K562	blood:

Extended variants
information (count: 1655 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1655 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1914204	chr11:83566115-83566116	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs79053680	chr11:83566116-83566117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376649447	chr11:83566129-83566130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184117900	chr11:83566192-83566193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116115074	chr11:83566193-83566194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565188059	chr11:83566240-83566241	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576934425	chr11:83566244-83566245	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188262983	chr11:83566265-83566266	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559149925	chr11:83566339-83566340	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527775159	chr11:83566360-83566361	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77853236	chr11:83566374-83566375	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560905016	chr11:83566406-83566407	Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181007798	chr11:83566410-83566411	Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550175944	chr11:83566503-83566504	Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571921438	chr11:83566517-83566518	Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73520828	chr11:83566552-83566553	Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs186397118	chr11:83566554-83566555	Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189587007	chr11:83566587-83566588	Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144868541	chr11:83566611-83566612	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560667458	chr11:83566628-83566629	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374631720	chr11:83566637-83566638	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs116581511	chr11:83566639-83566640	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543672432	chr11:83566652-83566653	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148254642	chr11:83566695-83566696	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558539134	chr11:83566707-83566708	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577045123	chr11:83566798-83566799	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541013653	chr11:83566837-83566838	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532262072	chr11:83566876-83566877	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79679048	chr11:83566877-83566878	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs72958264	chr11:83566889-83566890	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs376414142	chr11:83566899-83566900	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181518040	chr11:83566916-83566917	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542663908	chr11:83566943-83566944	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140323383	chr11:83566962-83566963	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531569448	chr11:83566969-83566970	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565048008	chr11:83566987-83566988	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543786751	chr11:83567039-83567040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150341752	chr11:83567053-83567054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545122985	chr11:83567112-83567113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560630691	chr11:83567208-83567209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568409201	chr11:83567212-83567213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370512112	chr11:83567234-83567235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113642344	chr11:83567236-83567237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549341907	chr11:83567277-83567278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138811638	chr11:83567279-83567280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143057311	chr11:83567341-83567342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531373407	chr11:83567348-83567349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147468941	chr11:83567364-83567365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138284023	chr11:83567373-83567374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34055888	chr11:83567498-83567499	Weak transcription	n/a	n/a	Overlapped CNVs	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:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:83559800-83566400	Weak transcription	Brain Angular Gyrus	brain
2	chr11:83565600-83567000	Weak transcription	Brain Hippocampus Middle	brain
3	chr11:83566000-83566200	Weak transcription	Liver	Liver
4	chr11:83566200-83566600	Active TSS	Liver	Liver
5	chr11:83566400-83567000	ZNF genes & repeats	Brain Angular Gyrus	brain
6	chr11:83567000-83576600	Weak transcription	Brain Angular Gyrus	brain
7	chr11:83568600-83569400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
8	chr11:83569200-83569600	ZNF genes & repeats	Brain Hippocampus Middle	brain
9	chr11:83569600-83570800	Weak transcription	Brain Hippocampus Middle	brain
10	chr11:83570800-83571200	ZNF genes & repeats	Brain Substantia Nigra	brain
11	chr11:83570800-83571400	Strong transcription	Brain Hippocampus Middle	brain
12	chr11:83571400-83571600	Weak transcription	Fetal Stomach	stomach
13	chr11:83571400-83573200	Weak transcription	Brain Hippocampus Middle	brain
14	chr11:83571400-83574400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr11:83572600-83575800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr11:83573200-83574200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr11:83573200-83574200	Enhancers	Brain Cingulate Gyrus	brain
18	chr11:83573200-83574400	Enhancers	Brain Anterior Caudate	brain
19	chr11:83573200-83574800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:83573200-83575600	Enhancers	Brain Hippocampus Middle	brain
21	chr11:83573200-83575800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr11:83573200-83577400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:83573600-83574200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:83573600-83574200	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr11:83573600-83574600	Enhancers	NHEK	skin
26	chr11:83573800-83574200	Enhancers	Colon Smooth Muscle	Colon
27	chr11:83573800-83574200	Enhancers	HMEC	breast
28	chr11:83573800-83575200	Enhancers	Brain Substantia Nigra	brain
29	chr11:83574000-83574400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr11:83574200-83574600	Weak transcription	HMEC	breast
31	chr11:83574200-83575400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:83574200-83575400	Weak transcription	Colon Smooth Muscle	Colon
33	chr11:83574200-83576200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr11:83574200-83576600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr11:83574200-83576800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr11:83574400-83575000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr11:83574400-83575800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:83574400-83577000	Weak transcription	Brain Anterior Caudate	brain
39	chr11:83574400-83577200	Enhancers	Stomach Smooth Muscle	stomach
40	chr11:83574600-83575600	Weak transcription	NHEK	skin
41	chr11:83574600-83577600	Enhancers	HMEC	breast
42	chr11:83574800-83575200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr11:83574800-83575600	Enhancers	Fetal Stomach	stomach
44	chr11:83575000-83576800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr11:83575200-83575600	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr11:83575200-83576600	Weak transcription	Brain Substantia Nigra	brain
47	chr11:83575200-83577400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr11:83575400-83576000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr11:83575400-83576400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr11:83575600-83575800	Enhancers	Colon Smooth Muscle	Colon

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