Variant report

Variant	esv2761704
Chromosome Location	chr11:101514325-101559016
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	chr11:100998594..101000111-chr11:101554824..101557594,2	MCF-7	breast:
2	chr11:101555926..101558823-chr11:101880932..101883184,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000082175	chromatin interactions

Extended variants
information (count: 523 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:523 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540615668	chr11:101522212-101522213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs1938848	chr11:101522219-101522220	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs144852199	chr11:101522234-101522235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544889612	chr11:101522247-101522248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565044014	chr11:101522251-101522252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528181308	chr11:101522289-101522290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530702930	chr11:101522299-101522300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201934424	chr11:101522303-101522304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10750613	chr11:101522307-101522308	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs188414421	chr11:101522316-101522317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10750614	chr11:101522322-101522323	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs78107702	chr11:101522373-101522374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531130502	chr11:101522392-101522393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539289739	chr11:101522393-101522394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10750615	chr11:101522426-101522427	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs569139170	chr11:101522448-101522449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557052721	chr11:101522475-101522476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs193043047	chr11:101522504-101522505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10750616	chr11:101522512-101522513	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs540279695	chr11:101522589-101522590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539671032	chr11:101522657-101522658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185661995	chr11:101522713-101522714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573077760	chr11:101522747-101522748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545315933	chr11:101522787-101522788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565161918	chr11:101522790-101522791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370542070	chr11:101522829-101522830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188990096	chr11:101522839-101522840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567942676	chr11:101522856-101522857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553527232	chr11:101522857-101522858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544375246	chr11:101522877-101522878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191438245	chr11:101522906-101522907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529759839	chr11:101522914-101522915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566863264	chr11:101522915-101522916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546299141	chr11:101522949-101522950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560120226	chr11:101522970-101522971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531994342	chr11:101522977-101522978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552495256	chr11:101523020-101523021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1938849	chr11:101523040-101523041	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs558336980	chr11:101523076-101523077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142530392	chr11:101523099-101523100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs5794124	chr11:101523100-101523101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs5004566	chr11:101523102-101523103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200728091	chr11:101523103-101523104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs5024520	chr11:101523106-101523107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148574558	chr11:101523144-101523145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183606356	chr11:101523155-101523156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377449733	chr11:101523162-101523163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200711118	chr11:101523163-101523164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12577857	chr11:101523169-101523170	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs187959640	chr11:101523194-101523195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	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
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	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
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	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
Melanoma	22183965	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mantle cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal cancer	21851588	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164920	CNVD
Breast cancer	17142309	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101522200-101525400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:101534000-101534600	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr11:101534200-101534600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr11:101537600-101537800	Enhancers	A549	lung
5	chr11:101537800-101538400	Flanking Active TSS	A549	lung
6	chr11:101537800-101539000	Enhancers	Fetal Lung	lung
7	chr11:101538400-101538600	Enhancers	A549	lung
8	chr11:101539000-101539400	Active TSS	Fetal Lung	lung
9	chr11:101539400-101540400	Enhancers	Fetal Lung	lung
10	chr11:101541200-101541400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:101555000-101555600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:101555400-101558000	Enhancers	A549	lung
13	chr11:101555600-101556000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:101555800-101556000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:101555800-101556000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr11:101555800-101556000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:101555800-101556000	Enhancers	NHDF-Ad	bronchial
18	chr11:101555800-101556200	Enhancers	NHEK	skin
19	chr11:101556000-101557000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:101556000-101557000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:101556000-101557000	Weak transcription	NHDF-Ad	bronchial
22	chr11:101556000-101563000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr11:101556200-101556600	Weak transcription	NHEK	skin
24	chr11:101556600-101558000	Enhancers	NHEK	skin
25	chr11:101557000-101558000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:101557000-101558000	Enhancers	HMEC	breast
27	chr11:101557000-101558000	Enhancers	NH-A	brain
28	chr11:101557000-101558000	Enhancers	NHDF-Ad	bronchial
29	chr11:101557000-101558200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:101557200-101557400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr11:101557200-101558000	Enhancers	Osteobl	bone
32	chr11:101557200-101558200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:101557200-101558200	Enhancers	Muscle Satellite Cultured Cells	--
34	chr11:101557600-101558800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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