Variant report

Variant	nsv524900
Chromosome Location	chr11:120642698-120645211
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 100 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17124301	chr11:120642698-120642699	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs535042810	chr11:120642755-120642756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553609104	chr11:120642759-120642760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571599492	chr11:120642806-120642807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7948804	chr11:120642807-120642808	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs552280906	chr11:120642809-120642810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113216186	chr11:120642836-120642837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs74535998	chr11:120642867-120642868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184652954	chr11:120642868-120642869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555616259	chr11:120642869-120642870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573761835	chr11:120642881-120642882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs367976403	chr11:120642924-120642925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571200499	chr11:120642925-120642926	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369169906	chr11:120642940-120642941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553072828	chr11:120642947-120642948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs80326995	chr11:120643050-120643051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559593013	chr11:120643060-120643061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565642383	chr11:120643062-120643063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7934092	chr11:120643090-120643091	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs544610255	chr11:120643118-120643119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541871162	chr11:120643154-120643155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs550111862	chr11:120643169-120643170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs150024042	chr11:120643173-120643174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs79652462	chr11:120643179-120643180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549252980	chr11:120643279-120643280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568299069	chr11:120643313-120643314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112739482	chr11:120643331-120643332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188267462	chr11:120643337-120643338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528682990	chr11:120643344-120643345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146201957	chr11:120643350-120643351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563189117	chr11:120643354-120643355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2846093	chr11:120643355-120643356	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539290691	chr11:120643356-120643357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557412264	chr11:120643357-120643358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377151466	chr11:120643370-120643371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142605993	chr11:120643375-120643376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536775346	chr11:120643453-120643454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555023110	chr11:120643454-120643455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144224970	chr11:120643459-120643460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147778940	chr11:120643468-120643469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376915678	chr11:120643474-120643475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141109794	chr11:120643484-120643485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577893272	chr11:120643503-120643504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191370214	chr11:120643515-120643516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs116463511	chr11:120643523-120643524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530403699	chr11:120643537-120643538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73576572	chr11:120643553-120643554	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs575809651	chr11:120643558-120643559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530842175	chr11:120643578-120643579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557818657	chr11:120643617-120643618	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	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
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Renal cell carcinoma	21668985	CNVD
Developmental delay	21147756	CNVD
Emanuel syndrome	21549014	CNVD
Emanuel syndrome	18184694	CNVD
Non-syndromic sensorineural hearing loss	18184694	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Ovarian neoplasms	16753589	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cancer	21183584	CNVD
Retinoblastoma	22278416	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-syndromic sensorineural hearing loss	16829213	CNVD
Non-syndromic sensorineural hearing loss	16760666	CNVD
Squamous cell cancer	20885788	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Neurocytoma	17123091	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Central neurocytomas	17123091	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Hepatocellular carcinoma	16750200	CNVD
Multiple myeloma	17550852	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Acute myeloid leukemia	19651601	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	20409316	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Heart disease	20551144	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Autism	22543975	CNVD
Breast cancer	21509527	CNVD
Barrett''s syndrome	19417022	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120637200-120646600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:120637200-120647000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:120641800-120643400	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr11:120641800-120643400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr11:120642000-120642800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr11:120642200-120642800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr11:120642600-120643000	Enhancers	H1 Cell Line	embryonic stem cell
8	chr11:120642600-120643000	Enhancers	H9 Cell Line	embryonic stem cell
9	chr11:120643000-120643400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr11:120643000-120646600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr11:120643200-120643400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr11:120643400-120643600	Enhancers	H1 Cell Line	embryonic stem cell
13	chr11:120643400-120643600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:120643400-120645400	Enhancers	HUVEC	blood vessel
15	chr11:120643400-120646400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr11:120643600-120644000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr11:120643600-120645600	ZNF genes & repeats	GM12878-XiMat	blood
18	chr11:120643600-120646400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr11:120643800-120644400	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr11:120643800-120645000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:120643800-120645200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr11:120644000-120644400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr11:120644000-120644800	Bivalent Enhancer	HSMMtube	muscle
24	chr11:120644200-120644400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:120644200-120644400	Enhancers	K562	blood
26	chr11:120644200-120644800	Enhancers	Osteobl	bone
27	chr11:120644600-120645000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:120645000-120645400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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