Variant report

Variant	nsv975232
Chromosome Location	chr11:119456883-119457383
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74420264	chr11:119456986-119456987	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576406582	chr11:119456993-119456994	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543848280	chr11:119457015-119457016	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs556028343	chr11:119457016-119457017	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs192488957	chr11:119457017-119457018	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs35733022	chr11:119457024-119457025	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs112690194	chr11:119457026-119457027	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs77118956	chr11:119457033-119457034	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs539147678	chr11:119457042-119457043	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs560263170	chr11:119457047-119457048	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs147928373	chr11:119457055-119457056	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs140525018	chr11:119457064-119457065	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs2010882	chr11:119457108-119457109	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs188195153	chr11:119457123-119457124	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs59270995	chr11:119457144-119457145	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs145387489	chr11:119457187-119457188	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs181380303	chr11:119457209-119457210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547790873	chr11:119457223-119457224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530682639	chr11:119457229-119457230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566247585	chr11:119457260-119457261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539671879	chr11:119457272-119457273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548874107	chr11:119457290-119457291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149223789	chr11:119457318-119457319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs200387895	chr11:119457335-119457336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs61901066	chr11:119457344-119457345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs74640728	chr11:119457354-119457355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs872330	chr11:119457358-119457359	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs534863516	chr11:119457359-119457360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542094782	chr11:119457364-119457365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553811894	chr11:119457366-119457367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553180945	chr11:119457369-119457370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
Breast cancer	17142309	CNVD
Autism	22543975	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119456000-119457000	Weak transcription	Gastric	stomach
2	chr11:119456000-119461200	Weak transcription	K562	blood
3	chr11:119456200-119457200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:119456200-119457200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr11:119456200-119457600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:119456200-119457800	Enhancers	Brain Anterior Caudate	brain
7	chr11:119456200-119460600	Weak transcription	HMEC	breast
8	chr11:119456400-119457200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
9	chr11:119456400-119459600	Weak transcription	Brain Angular Gyrus	brain
10	chr11:119456400-119459800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr11:119456400-119459800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:119456400-119459800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr11:119456400-119459800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr11:119456400-119459800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr11:119456400-119459800	Weak transcription	Esophagus	oesophagus
16	chr11:119456400-119460800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:119456400-119461400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:119456400-119462000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:119456600-119457000	Enhancers	Stomach Mucosa	stomach
20	chr11:119456600-119457200	Enhancers	Brain Germinal Matrix	brain
21	chr11:119456600-119459600	Weak transcription	Brain Substantia Nigra	brain
22	chr11:119456600-119459800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr11:119456600-119465200	Weak transcription	HUVEC	blood vessel
24	chr11:119456800-119457000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
25	chr11:119456800-119457000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
26	chr11:119456800-119457400	Enhancers	NHEK	skin
27	chr11:119456800-119460200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr11:119457000-119457200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr11:119457000-119457200	Enhancers	Gastric	stomach
30	chr11:119457000-119460600	Weak transcription	Stomach Mucosa	stomach
31	chr11:119457200-119459800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr11:119457200-119460800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr11:119457200-119461000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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