Variant report

Variant	nsv975121
Chromosome Location	chr11:86839167-86841985
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	chr11:86840088..86842543-chr11:86845796..86847320,2	K562	blood:

Extended variants
information (count: 132 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11825950	chr11:86839181-86839182	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566611399	chr11:86839185-86839186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567534793	chr11:86839199-86839200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555437247	chr11:86839260-86839261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575589610	chr11:86839270-86839271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183947339	chr11:86839278-86839279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558092833	chr11:86839289-86839290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577865713	chr11:86839291-86839292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531819684	chr11:86839298-86839299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs654986	chr11:86839331-86839332	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs138144973	chr11:86839345-86839346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs655050	chr11:86839381-86839382	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs542632178	chr11:86839410-86839411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143711693	chr11:86839457-86839458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531616061	chr11:86839499-86839500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs655907	chr11:86839536-86839537	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs565243395	chr11:86839584-86839585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527878918	chr11:86839585-86839586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188287383	chr11:86839591-86839592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs11234982	chr11:86839600-86839601	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs369744206	chr11:86839628-86839629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs373214583	chr11:86839659-86839660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568829921	chr11:86839675-86839676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537843287	chr11:86839727-86839728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs376407859	chr11:86839733-86839734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566035941	chr11:86839769-86839770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs560090347	chr11:86839791-86839792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558080233	chr11:86839805-86839806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs147232043	chr11:86839875-86839876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs533730622	chr11:86839878-86839879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs370930477	chr11:86839879-86839880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs373508993	chr11:86839927-86839928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573772828	chr11:86839945-86839946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs35418233	chr11:86839948-86839949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs201556358	chr11:86839949-86839950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs11234983	chr11:86839972-86839973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs11234984	chr11:86839996-86839997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532301664	chr11:86840021-86840022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs3103384	chr11:86840056-86840057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12574813	chr11:86840057-86840058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs71040294	chr11:86840058-86840059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542676099	chr11:86840061-86840062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556250665	chr11:86840090-86840091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs491895	chr11:86840098-86840099	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs180762114	chr11:86840118-86840119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73523044	chr11:86840173-86840174	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs140288246	chr11:86840189-86840190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12576009	chr11:86840226-86840227	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs368594050	chr11:86840256-86840257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77717555	chr11:86840263-86840264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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	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
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	21364760	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	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
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Attention deficit hyperactivity disorder	22241247	CNVD
Breast cancer	21958427	CNVD
Breast cancer	17133270	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Obesity	20622171	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86804600-86839400	Weak transcription	Fetal Kidney	kidney
2	chr11:86809000-86844000	Weak transcription	Ovary	ovary
3	chr11:86809000-86876000	Weak transcription	Left Ventricle	heart
4	chr11:86818200-86839200	Weak transcription	Fetal Lung	lung
5	chr11:86818200-86842800	Weak transcription	Aorta	Aorta
6	chr11:86818400-86842400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:86833400-86849400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr11:86834600-86849800	Weak transcription	Primary B cells from cord blood	blood
9	chr11:86835200-86839200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr11:86836200-86853000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:86836600-86839200	Weak transcription	A549	lung
12	chr11:86836600-86848800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:86836800-86841200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:86836800-86877200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:86837200-86844000	Weak transcription	Gastric	stomach
16	chr11:86837200-86852600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:86838000-86840000	Enhancers	HepG2	liver
18	chr11:86838600-86840800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:86838600-86846600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:86838800-86841600	Weak transcription	Right Atrium	heart
21	chr11:86839000-86839200	Enhancers	Colon Smooth Muscle	Colon
22	chr11:86839000-86839400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr11:86839000-86839400	Enhancers	Stomach Mucosa	stomach
24	chr11:86839200-86839600	Enhancers	Fetal Lung	lung
25	chr11:86839200-86839600	Enhancers	A549	lung
26	chr11:86839200-86839800	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr11:86839400-86839600	Enhancers	Fetal Kidney	kidney
28	chr11:86839600-86850400	Weak transcription	Fetal Lung	lung
29	chr11:86839800-86843800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr11:86840000-86849800	Weak transcription	HepG2	liver
31	chr11:86840800-86843000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:86841200-86841800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:86841600-86845400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr11:86841800-86843800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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