Variant report

Variant	esv2631282
Chromosome Location	chr11:86964171-86965449
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528247052	chr11:86964177-86964178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188830283	chr11:86964199-86964200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114075643	chr11:86964246-86964247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377645513	chr11:86964338-86964339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs687197	chr11:86964357-86964358	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs199705600	chr11:86964386-86964387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs666043	chr11:86964415-86964416	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs687568	chr11:86964421-86964422	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs371206177	chr11:86964450-86964451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553344509	chr11:86964459-86964460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573491148	chr11:86964488-86964489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371168725	chr11:86964554-86964555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535619879	chr11:86964564-86964565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1686166	chr11:86964598-86964599	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs181197796	chr11:86964623-86964624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185413491	chr11:86964666-86964667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145095035	chr11:86964688-86964689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543146066	chr11:86964689-86964690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563285783	chr11:86964722-86964723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576809028	chr11:86964724-86964725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545785707	chr11:86964725-86964726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559342882	chr11:86964726-86964727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs60680451	chr11:86964733-86964734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2509561	chr11:86964759-86964760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142385092	chr11:86964811-86964812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561902013	chr11:86964820-86964821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531019736	chr11:86964825-86964826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146374418	chr11:86964898-86964899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529018824	chr11:86964922-86964923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539411207	chr11:86964937-86964938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530148440	chr11:86964952-86964953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs61904477	chr11:86964961-86964962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111565568	chr11:86964962-86964963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs61904478	chr11:86964963-86964964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112411652	chr11:86964964-86964965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs61904479	chr11:86964965-86964966	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs2459960	chr11:86964991-86964992	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs368293390	chr11:86965013-86965014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370638489	chr11:86965100-86965101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2459959	chr11:86965161-86965162	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs180734428	chr11:86965187-86965188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576878780	chr11:86965245-86965246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576949294	chr11:86965287-86965288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368482527	chr11:86965313-86965314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559319186	chr11:86965322-86965323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534649964	chr11:86965341-86965342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372328304	chr11:86965347-86965348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2030234	chr11:86965391-86965392	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs187213412	chr11:86965399-86965400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561863301	chr11:86965425-86965426	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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86961400-86967800	Weak transcription	NHDF-Ad	bronchial
2	chr11:86962400-86972000	Weak transcription	Primary T cells from cord blood	blood
3	chr11:86962800-86977600	Weak transcription	K562	blood
4	chr11:86963000-86976200	Weak transcription	Colon Smooth Muscle	Colon
5	chr11:86963200-86965800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr11:86963200-86969400	Weak transcription	Adipose Nuclei	Adipose
7	chr11:86963600-86964400	Enhancers	HUVEC	blood vessel
8	chr11:86963800-86964400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:86963800-86964600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:86964000-86964200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:86964000-86964400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:86964400-86966200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:86964400-86969400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr11:86964400-86969400	Weak transcription	HUVEC	blood vessel
15	chr11:86964400-86970800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr11:86964600-86970800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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