Variant report

Variant	nsv898022
Chromosome Location	chr11:83562296-83602367
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: 1827 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1827 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6592150	chr11:83562296-83562297	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543468812	chr11:83562307-83562308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190048524	chr11:83562309-83562310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543860436	chr11:83562323-83562324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140151063	chr11:83562325-83562326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547787257	chr11:83562338-83562339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559523435	chr11:83562359-83562360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530396103	chr11:83562360-83562361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113467242	chr11:83562394-83562395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs6592151	chr11:83562410-83562411	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs182663186	chr11:83562426-83562427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551956663	chr11:83562453-83562454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188437682	chr11:83562457-83562458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567808609	chr11:83562461-83562462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192266192	chr11:83562472-83562473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552909933	chr11:83562495-83562496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536736734	chr11:83562531-83562532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527569473	chr11:83562559-83562560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7118403	chr11:83562562-83562563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182968689	chr11:83562617-83562618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12808068	chr11:83562668-83562669	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs376147145	chr11:83562670-83562671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12363295	chr11:83562686-83562687	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs558749726	chr11:83562690-83562691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201742255	chr11:83562717-83562718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577254433	chr11:83562733-83562734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188673419	chr11:83562753-83562754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143073781	chr11:83562784-83562785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529416650	chr11:83562800-83562801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192570792	chr11:83562807-83562808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542493616	chr11:83562820-83562821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184203477	chr11:83562832-83562833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs151151978	chr11:83562889-83562890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140069938	chr11:83562894-83562895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12808938	chr11:83562895-83562896	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs528183347	chr11:83562917-83562918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551472109	chr11:83562927-83562928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111443686	chr11:83562948-83562949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371310665	chr11:83562949-83562950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549573145	chr11:83562956-83562957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535087032	chr11:83563048-83563049	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs556811215	chr11:83563053-83563054	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs534189599	chr11:83563059-83563060	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs373079319	chr11:83563076-83563077	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs568829233	chr11:83563085-83563086	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs568796846	chr11:83563101-83563102	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs557913763	chr11:83563139-83563140	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs573001902	chr11:83563142-83563143	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs555933923	chr11:83563143-83563144	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs114757184	chr11:83563167-83563168	Enhancers Weak transcription Flanking Active TSS	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:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:83550000-83564200	Weak transcription	Brain Hippocampus Middle	brain
2	chr11:83550200-83564600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr11:83559800-83566400	Weak transcription	Brain Angular Gyrus	brain
4	chr11:83561400-83563000	Enhancers	HepG2	liver
5	chr11:83561600-83563200	Enhancers	Liver	Liver
6	chr11:83563000-83563400	Enhancers	Pancreas	Pancrea
7	chr11:83563000-83564400	Flanking Active TSS	HepG2	liver
8	chr11:83563000-83564600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr11:83563200-83564600	Flanking Active TSS	Liver	Liver
10	chr11:83563800-83564200	Enhancers	Stomach Mucosa	stomach
11	chr11:83563800-83565600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr11:83564000-83564600	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr11:83564200-83565600	Enhancers	Brain Hippocampus Middle	brain
14	chr11:83564400-83565600	Enhancers	HepG2	liver
15	chr11:83564600-83565000	Enhancers	Brain Cingulate Gyrus	brain
16	chr11:83564600-83566000	Enhancers	Liver	Liver
17	chr11:83565600-83567000	Weak transcription	Brain Hippocampus Middle	brain
18	chr11:83566000-83566200	Weak transcription	Liver	Liver
19	chr11:83566200-83566600	Active TSS	Liver	Liver
20	chr11:83566400-83567000	ZNF genes & repeats	Brain Angular Gyrus	brain
21	chr11:83567000-83576600	Weak transcription	Brain Angular Gyrus	brain
22	chr11:83568600-83569400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
23	chr11:83569200-83569600	ZNF genes & repeats	Brain Hippocampus Middle	brain
24	chr11:83569600-83570800	Weak transcription	Brain Hippocampus Middle	brain
25	chr11:83570800-83571200	ZNF genes & repeats	Brain Substantia Nigra	brain
26	chr11:83570800-83571400	Strong transcription	Brain Hippocampus Middle	brain
27	chr11:83571400-83571600	Weak transcription	Fetal Stomach	stomach
28	chr11:83571400-83573200	Weak transcription	Brain Hippocampus Middle	brain
29	chr11:83571400-83574400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:83572600-83575800	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr11:83573200-83574200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:83573200-83574200	Enhancers	Brain Cingulate Gyrus	brain
33	chr11:83573200-83574400	Enhancers	Brain Anterior Caudate	brain
34	chr11:83573200-83574800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr11:83573200-83575600	Enhancers	Brain Hippocampus Middle	brain
36	chr11:83573200-83575800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr11:83573200-83577400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:83573600-83574200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:83573600-83574200	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr11:83573600-83574600	Enhancers	NHEK	skin
41	chr11:83573800-83574200	Enhancers	Colon Smooth Muscle	Colon
42	chr11:83573800-83574200	Enhancers	HMEC	breast
43	chr11:83573800-83575200	Enhancers	Brain Substantia Nigra	brain
44	chr11:83574000-83574400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr11:83574200-83574600	Weak transcription	HMEC	breast
46	chr11:83574200-83575400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr11:83574200-83575400	Weak transcription	Colon Smooth Muscle	Colon
48	chr11:83574200-83576200	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr11:83574200-83576600	Weak transcription	Brain Cingulate Gyrus	brain
50	chr11:83574200-83576800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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