Variant report

Variant	esv1806027
Chromosome Location	chr11:83740599-83775326
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:83756394..83757894-chr8:43091429..43092930,2	MCF-7	breast:
2	chr11:83757394..83757894-chr8:43092430..43092931,2	MCF-7	breast:

Extended variants
information (count: 1005 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1005 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570070718	chr11:83745636-83745637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs71469615	chr11:83745637-83745638	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs552856410	chr11:83745646-83745647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571182461	chr11:83745652-83745653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535195660	chr11:83745655-83745656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181246268	chr11:83745658-83745659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574582923	chr11:83745792-83745793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144763608	chr11:83745793-83745794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs963146	chr11:83745796-83745797	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs10501553	chr11:83745815-83745816	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs545506078	chr11:83745827-83745828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184846893	chr11:83745859-83745860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138351734	chr11:83745867-83745868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540014794	chr11:83745893-83745894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142840149	chr11:83745987-83745988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530125696	chr11:83745991-83745992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548621341	chr11:83746025-83746026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563633249	chr11:83746028-83746029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530905912	chr11:83746029-83746030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552619286	chr11:83746049-83746050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs143273070	chr11:83746060-83746061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189354909	chr11:83746119-83746120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547207709	chr11:83746120-83746121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368759285	chr11:83746149-83746150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576504121	chr11:83746158-83746159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556923804	chr11:83746207-83746208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575080005	chr11:83746285-83746286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535675320	chr11:83746322-83746323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556992083	chr11:83746376-83746377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374623441	chr11:83746408-83746409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12792083	chr11:83746424-83746425	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs539406463	chr11:83746434-83746435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1483384	chr11:83746440-83746441	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs180872455	chr11:83746460-83746461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540178300	chr11:83746469-83746470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561659819	chr11:83746479-83746480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573735271	chr11:83746500-83746501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148305149	chr11:83746517-83746518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563769361	chr11:83746524-83746525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558094139	chr11:83746548-83746549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369603709	chr11:83746551-83746552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186099350	chr11:83746560-83746561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546216865	chr11:83746576-83746577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564513676	chr11:83746608-83746609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537527070	chr11:83746663-83746664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540482365	chr11:83746724-83746725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547267133	chr11:83746730-83746731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568680514	chr11:83746731-83746732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34764316	chr11:83746765-83746766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs397757014	chr11:83746766-83746767	Enhancers 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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:83745600-83746200	Enhancers	Rectal Smooth Muscle	rectum
2	chr11:83745600-83746800	Enhancers	Stomach Smooth Muscle	stomach
3	chr11:83745800-83748200	Enhancers	Colon Smooth Muscle	Colon
4	chr11:83746200-83748000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr11:83746800-83748000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr11:83747200-83749000	Enhancers	Liver	Liver
7	chr11:83748000-83748200	Enhancers	Stomach Smooth Muscle	stomach
8	chr11:83748000-83748400	Enhancers	Rectal Smooth Muscle	rectum
9	chr11:83755000-83755200	Enhancers	Brain Substantia Nigra	brain
10	chr11:83755200-83764000	Weak transcription	Brain Substantia Nigra	brain
11	chr11:83755400-83755800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:83760800-83761200	ZNF genes & repeats	Brain Hippocampus Middle	brain
13	chr11:83761200-83773200	Weak transcription	Brain Hippocampus Middle	brain
14	chr11:83764000-83764400	ZNF genes & repeats	Brain Substantia Nigra	brain
15	chr11:83764400-83766600	Weak transcription	Brain Substantia Nigra	brain
16	chr11:83766600-83766800	Enhancers	Brain Substantia Nigra	brain
17	chr11:83766800-83767200	Weak transcription	Brain Substantia Nigra	brain
18	chr11:83767200-83767800	Enhancers	Brain Substantia Nigra	brain
19	chr11:83767400-83768400	Enhancers	Fetal Stomach	stomach
20	chr11:83767600-83768000	Enhancers	Fetal Lung	lung
21	chr11:83767600-83768200	Enhancers	Colon Smooth Muscle	Colon
22	chr11:83767800-83772400	Weak transcription	Brain Substantia Nigra	brain
23	chr11:83768000-83768200	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr11:83768200-83772000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr11:83771800-83772400	Enhancers	Brain Cingulate Gyrus	brain
26	chr11:83772000-83772200	Enhancers	Fetal Brain Male	brain
27	chr11:83772000-83772600	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr11:83772000-83773400	Enhancers	Fetal Brain Female	brain
29	chr11:83772000-83773600	Enhancers	Brain Angular Gyrus	brain
30	chr11:83772200-83773200	Weak transcription	Fetal Brain Male	brain
31	chr11:83772400-83773600	Enhancers	Brain Substantia Nigra	brain
32	chr11:83772400-83780200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr11:83772600-83773000	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr11:83772600-83773600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:83773000-83773600	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr11:83773200-83773400	Enhancers	Brain Hippocampus Middle	brain
37	chr11:83773200-83773600	Enhancers	Fetal Brain Male	brain
38	chr11:83773400-83773600	Enhancers	Brain Germinal Matrix	brain
39	chr11:83773600-83781000	Weak transcription	Brain Angular Gyrus	brain
40	chr11:83774200-83774400	Enhancers	Brain Germinal Matrix	brain

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