Variant report

Variant	nsv983008
Chromosome Location	chr11:45534958-45536782
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr11:45535400-45535429	NB4	blood:	n/a	n/a
2	STAT3	chr11:45536632-45536880	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SYT13-3	chr11:45534823-45535352	ENSG00000255041

Variant related genes	Relation type
ENSG00000255041	TF binding region
ENSG00000255519	TF binding region

Extended variants
information (count: 86 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114987188	chr11:45534971-45534972	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs145556725	chr11:45534994-45534995	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs539408417	chr11:45535038-45535039	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs556017106	chr11:45535087-45535088	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs371099394	chr11:45535132-45535133	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs569710234	chr11:45535137-45535138	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs374133859	chr11:45535140-45535141	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs535287202	chr11:45535189-45535190	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs875021	chr11:45535213-45535214	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs572017169	chr11:45535217-45535218	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs535115065	chr11:45535262-45535263	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs560807066	chr11:45535267-45535268	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs558030632	chr11:45535280-45535281	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs147731137	chr11:45535289-45535290	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs543784868	chr11:45535314-45535315	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs563661206	chr11:45535366-45535367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558011736	chr11:45535415-45535416	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs529380895	chr11:45535454-45535455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543261613	chr11:45535462-45535463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs61708271	chr11:45535467-45535468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187886014	chr11:45535514-45535515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs574411979	chr11:45535524-45535525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552140205	chr11:45535587-45535588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12294964	chr11:45535604-45535605	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs532815590	chr11:45535633-45535634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs144957303	chr11:45535647-45535648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569665400	chr11:45535653-45535654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs151321133	chr11:45535688-45535689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555145290	chr11:45535689-45535690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565584718	chr11:45535703-45535704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192398303	chr11:45535704-45535705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557803287	chr11:45535716-45535717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140458690	chr11:45535717-45535718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs74499269	chr11:45535736-45535737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs575900395	chr11:45535755-45535756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs371569115	chr11:45535756-45535757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574193324	chr11:45535795-45535796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184492048	chr11:45535864-45535865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs57519851	chr11:45535891-45535892	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs188352556	chr11:45535917-45535918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs77681058	chr11:45535950-45535951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545560739	chr11:45535953-45535954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs145253970	chr11:45535955-45535956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs56838535	chr11:45535967-45535968	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs375026129	chr11:45535969-45535970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545487109	chr11:45535977-45535978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs549520548	chr11:45535980-45535981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs192937429	chr11:45535985-45535986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184569542	chr11:45536080-45536081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs548710089	chr11:45536098-45536099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45530800-45535200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:45535200-45535400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:45535200-45535400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:45535200-45535600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr11:45535200-45535600	Enhancers	Duodenum Mucosa	Duodenum
6	chr11:45535200-45536000	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr11:45535400-45535800	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr11:45535400-45535800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr11:45535400-45538800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:45535400-45538800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:45535800-45536200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr11:45536000-45540000	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr11:45536200-45539800	Weak transcription	Primary monocytes fromperipheralblood	blood

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