Variant report

Variant	nsv898030
Chromosome Location	chr11:83730570-83789540
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 1772 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1772 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12274345	chr11:83730570-83730571	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572232052	chr11:83730604-83730605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200625771	chr11:83730615-83730616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11233880	chr11:83730635-83730636	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs192031977	chr11:83730663-83730664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140137730	chr11:83730735-83730736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576228360	chr11:83730740-83730741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150297070	chr11:83730742-83730743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138222634	chr11:83730744-83730745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35013561	chr11:83730749-83730750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533484834	chr11:83730772-83730773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200578157	chr11:83730775-83730776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182830735	chr11:83730802-83730803	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188351051	chr11:83730825-83730826	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566601403	chr11:83730833-83730834	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527977678	chr11:83730869-83730870	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549693298	chr11:83730870-83730871	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75323382	chr11:83730909-83730910	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143717743	chr11:83730919-83730920	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533871581	chr11:83730932-83730933	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549984630	chr11:83730935-83730936	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190600980	chr11:83730942-83730943	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375438460	chr11:83730993-83730994	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538382024	chr11:83731019-83731020	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182335369	chr11:83731087-83731088	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572052413	chr11:83731103-83731104	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555443229	chr11:83731114-83731115	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375627767	chr11:83731127-83731128	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147210294	chr11:83731178-83731179	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554807924	chr11:83731357-83731358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138852051	chr11:83731363-83731364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543611471	chr11:83731365-83731366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565089494	chr11:83731366-83731367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs578130993	chr11:83731367-83731368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369717658	chr11:83731371-83731372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545532501	chr11:83731403-83731404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552119388	chr11:83731434-83731435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs186944303	chr11:83731436-83731437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs573638016	chr11:83731446-83731447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs527647052	chr11:83731473-83731474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs35698531	chr11:83731519-83731520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs11233881	chr11:83731540-83731541	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs117122845	chr11:83731573-83731574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs149285505	chr11:83731637-83731638	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs549947940	chr11:83731646-83731647	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs571536990	chr11:83731667-83731668	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs538342986	chr11:83731669-83731670	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs547509692	chr11:83731700-83731701	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs372954332	chr11:83731723-83731724	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs192507657	chr11:83731765-83731766	Weak transcription Enhancers 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:180 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:83723600-83731400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr11:83723800-83730600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr11:83723800-83730600	Weak transcription	Brain Substantia Nigra	brain
4	chr11:83724200-83731000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr11:83728200-83733200	Enhancers	Brain Hippocampus Middle	brain
6	chr11:83730200-83730800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr11:83730200-83730800	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr11:83730200-83731400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:83730200-83733600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:83730400-83730800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr11:83730400-83731200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:83730400-83731200	Enhancers	NH-A	brain
13	chr11:83730400-83731800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr11:83730600-83732000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr11:83730600-83733600	Enhancers	Brain Angular Gyrus	brain
16	chr11:83730600-83734000	Enhancers	Brain Substantia Nigra	brain
17	chr11:83730600-83734400	Enhancers	Brain Cingulate Gyrus	brain
18	chr11:83730800-83731000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:83730800-83731000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
20	chr11:83730800-83731200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:83730800-83731200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr11:83730800-83731200	Enhancers	NHLF	lung
23	chr11:83730800-83731200	Enhancers	Osteobl	bone
24	chr11:83730800-83731400	Enhancers	Ovary	ovary
25	chr11:83730800-83731600	Enhancers	Brain Anterior Caudate	brain
26	chr11:83731000-83731200	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr11:83731000-83731200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:83731000-83731200	Enhancers	Rectal Smooth Muscle	rectum
29	chr11:83731000-83732200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr11:83731000-83734000	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr11:83731000-83734600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:83731200-83731400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:83731200-83731600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr11:83731200-83732200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr11:83731200-83733000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:83731200-83734000	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr11:83731400-83731600	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr11:83731400-83731800	Weak transcription	Ovary	ovary
39	chr11:83731400-83732600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr11:83731400-83733200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr11:83731400-83734200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:83731600-83731800	Enhancers	Brain Germinal Matrix	brain
43	chr11:83731600-83732000	Flanking Active TSS	Brain Anterior Caudate	brain
44	chr11:83731600-83733200	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr11:83731600-83733200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr11:83731600-83733600	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr11:83731800-83732000	Enhancers	Ovary	ovary
48	chr11:83731800-83733000	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr11:83731800-83733000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr11:83731800-83734200	Enhancers	Colon Smooth Muscle	Colon

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