Variant report

Variant	nsv898020
Chromosome Location	chr11:83558738-83602367
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	chr11:83571260..83574141-chr11:83577479..83579450,2	K562	blood:
3	chr11:83571260..83574141-chr11:83577479..83579450,2	K562	blood:
4	chr11:83571091..83572760-chr11:83577479..83580150,2	K562	blood:

Extended variants
information (count: 2022 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:2022 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3793949	chr11:83558738-83558739	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs547184880	chr11:83558752-83558753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146256398	chr11:83558755-83558756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139294295	chr11:83558758-83558759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs180745219	chr11:83558804-83558805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375022187	chr11:83558809-83558810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs3793950	chr11:83558840-83558841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557583770	chr11:83558873-83558874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7945844	chr11:83558925-83558926	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs117728375	chr11:83558944-83558945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185142341	chr11:83558991-83558992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573801439	chr11:83559002-83559003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143731643	chr11:83559020-83559021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557501969	chr11:83559028-83559029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7935339	chr11:83559034-83559035	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs528190702	chr11:83559045-83559046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146326409	chr11:83559063-83559064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575090229	chr11:83559108-83559109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116344162	chr11:83559126-83559127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34648391	chr11:83559167-83559168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs71963915	chr11:83559168-83559169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139585070	chr11:83559191-83559192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553294167	chr11:83559202-83559203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150174389	chr11:83559203-83559204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192125640	chr11:83559205-83559206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183891541	chr11:83559221-83559222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149986010	chr11:83559276-83559277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550221066	chr11:83559294-83559295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568613693	chr11:83559312-83559313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78917501	chr11:83559319-83559320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550947204	chr11:83559335-83559336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566374444	chr11:83559338-83559339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145149093	chr11:83559364-83559365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149231270	chr11:83559410-83559411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567415834	chr11:83559432-83559433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189219002	chr11:83559527-83559528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs6592149	chr11:83559542-83559543	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs142452875	chr11:83559563-83559564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546350156	chr11:83559614-83559615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369182578	chr11:83559648-83559649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12364251	chr11:83559659-83559660	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs373193869	chr11:83559733-83559734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573200998	chr11:83559807-83559808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74402604	chr11:83559844-83559845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568850067	chr11:83559864-83559865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562251787	chr11:83559940-83559941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559839022	chr11:83560017-83560018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369034732	chr11:83560061-83560062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529400410	chr11:83560103-83560104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544424464	chr11:83560126-83560127	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:111 , 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	chr11:83550200-83562200	Weak transcription	Brain Substantia Nigra	brain
3	chr11:83550200-83564600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr11:83557400-83561600	Weak transcription	Liver	Liver
5	chr11:83557800-83561400	Weak transcription	HepG2	liver
6	chr11:83559600-83559800	Enhancers	Brain Angular Gyrus	brain
7	chr11:83559800-83566400	Weak transcription	Brain Angular Gyrus	brain
8	chr11:83561400-83563000	Enhancers	HepG2	liver
9	chr11:83561600-83563200	Enhancers	Liver	Liver
10	chr11:83563000-83563400	Enhancers	Pancreas	Pancrea
11	chr11:83563000-83564400	Flanking Active TSS	HepG2	liver
12	chr11:83563000-83564600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr11:83563200-83564600	Flanking Active TSS	Liver	Liver
14	chr11:83563800-83564200	Enhancers	Stomach Mucosa	stomach
15	chr11:83563800-83565600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:83564000-83564600	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr11:83564200-83565600	Enhancers	Brain Hippocampus Middle	brain
18	chr11:83564400-83565600	Enhancers	HepG2	liver
19	chr11:83564600-83565000	Enhancers	Brain Cingulate Gyrus	brain
20	chr11:83564600-83566000	Enhancers	Liver	Liver
21	chr11:83565600-83567000	Weak transcription	Brain Hippocampus Middle	brain
22	chr11:83566000-83566200	Weak transcription	Liver	Liver
23	chr11:83566200-83566600	Active TSS	Liver	Liver
24	chr11:83566400-83567000	ZNF genes & repeats	Brain Angular Gyrus	brain
25	chr11:83567000-83576600	Weak transcription	Brain Angular Gyrus	brain
26	chr11:83568600-83569400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
27	chr11:83569200-83569600	ZNF genes & repeats	Brain Hippocampus Middle	brain
28	chr11:83569600-83570800	Weak transcription	Brain Hippocampus Middle	brain
29	chr11:83570800-83571200	ZNF genes & repeats	Brain Substantia Nigra	brain
30	chr11:83570800-83571400	Strong transcription	Brain Hippocampus Middle	brain
31	chr11:83571400-83571600	Weak transcription	Fetal Stomach	stomach
32	chr11:83571400-83573200	Weak transcription	Brain Hippocampus Middle	brain
33	chr11:83571400-83574400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr11:83572600-83575800	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr11:83573200-83574200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr11:83573200-83574200	Enhancers	Brain Cingulate Gyrus	brain
37	chr11:83573200-83574400	Enhancers	Brain Anterior Caudate	brain
38	chr11:83573200-83574800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:83573200-83575600	Enhancers	Brain Hippocampus Middle	brain
40	chr11:83573200-83575800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:83573200-83577400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr11:83573600-83574200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr11:83573600-83574200	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr11:83573600-83574600	Enhancers	NHEK	skin
45	chr11:83573800-83574200	Enhancers	Colon Smooth Muscle	Colon
46	chr11:83573800-83574200	Enhancers	HMEC	breast
47	chr11:83573800-83575200	Enhancers	Brain Substantia Nigra	brain
48	chr11:83574000-83574400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr11:83574200-83574600	Weak transcription	HMEC	breast
50	chr11:83574200-83575400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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