Variant report

Variant	esv3407480
Chromosome Location	chr11:120694163-120694633
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	chr11:120693402..120695956-chr11:120702028..120703706,2	K562	blood:
2	chr11:120689816..120692412-chr11:120693734..120696623,3	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565749280	chr11:120694173-120694174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs117947483	chr11:120694228-120694229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs75954141	chr11:120694254-120694255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546807270	chr11:120694272-120694273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs118087878	chr11:120694321-120694322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181245562	chr11:120694344-120694345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557250830	chr11:120694390-120694391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148984434	chr11:120694408-120694409	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs568848759	chr11:120694412-120694413	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs535852200	chr11:120694434-120694435	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs554685212	chr11:120694440-120694441	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs572843525	chr11:120694447-120694448	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs143747355	chr11:120694456-120694457	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs542359287	chr11:120694460-120694461	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs12278293	chr11:120694461-120694462	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs75208530	chr11:120694466-120694467	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs537735457	chr11:120694475-120694476	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs11827443	chr11:120694502-120694503	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs530134301	chr11:120694507-120694508	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs112891502	chr11:120694522-120694523	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs11218015	chr11:120694523-120694524	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs560673746	chr11:120694526-120694527	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs111543826	chr11:120694531-120694532	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs12291645	chr11:120694571-120694572	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs549550224	chr11:120694587-120694588	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs532311192	chr11:120694597-120694598	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer	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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120674000-120696000	Weak transcription	Fetal Lung	lung
2	chr11:120680200-120695000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:120684000-120707600	Weak transcription	Ovary	ovary
4	chr11:120688200-120699800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr11:120688400-120695200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr11:120688600-120698400	Weak transcription	Brain Hippocampus Middle	brain
7	chr11:120690800-120698600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr11:120691400-120699000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr11:120691600-120698800	Weak transcription	Brain Anterior Caudate	brain
10	chr11:120693600-120694200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:120693600-120694600	Enhancers	HepG2	liver
12	chr11:120694200-120694600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:120694400-120694600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:120694400-120694600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr11:120694600-120696000	Weak transcription	HepG2	liver
16	chr11:120694600-120703000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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