Variant report

Variant	nsv517591
Chromosome Location	chr11:5811966-5821573
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	CEBPB	chr11:5818545-5818706	A549	lung:	n/a	chr11:5818599-5818608 chr11:5818599-5818608 chr11:5818598-5818609 chr11:5818599-5818608 chr11:5818597-5818608 chr11:5818599-5818608
2	CEBPB	chr11:5818464-5818701	HepG2	liver:	n/a	chr11:5818599-5818608 chr11:5818599-5818608 chr11:5818598-5818609 chr11:5818599-5818608 chr11:5818597-5818608 chr11:5818599-5818608
3	MAFK	chr11:5819987-5820055	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr11:5815326-5815526	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr11:5815698-5815775	A549	lung:	n/a	n/a
6	POLR2A	chr11:5816936-5817136	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr11:5812962-5812985	MCF10A-Er-Src	breast:	n/a	n/a
8	STAT3	chr11:5816279-5816430	MCF10A-Er-Src	breast:	n/a	n/a
9	STAT3	chr11:5817607-5817807	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:5811775..5813823-chr11:5815438..5817025,2	K562	blood:
2	chr11:5811775..5813823-chr11:5815438..5817025,2	K562	blood:

Variant related genes	Relation type
OR52N1	TF binding region
OR52N3P	TF binding region

Extended variants
information (count: 72 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4758404	chr11:5812206-5812207	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs189200262	chr11:5812210-5812211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114116507	chr11:5812265-5812266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552517678	chr11:5812277-5812278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574359231	chr11:5812282-5812283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543262250	chr11:5812288-5812289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540540465	chr11:5812292-5812293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561422099	chr11:5812294-5812295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181952548	chr11:5812344-5812345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs74621326	chr11:5812354-5812355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs11604743	chr11:5812445-5812446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565499549	chr11:5812483-5812484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532614388	chr11:5812514-5812515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs145330202	chr11:5812562-5812563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570056075	chr11:5812962-5812963	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs372223658	chr11:5812964-5812965	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs553319816	chr11:5812967-5812968	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs560809614	chr11:5816966-5816967	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs1453427	chr11:5816995-5816996	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs542989301	chr11:5817053-5817054	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs564559643	chr11:5817091-5817092	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs533412797	chr11:5817112-5817113	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs151148452	chr11:5817126-5817127	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs1453426	chr11:5817127-5817128	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs116752391	chr11:5817136-5817137	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs77766484	chr11:5817632-5817633	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs143204129	chr11:5817682-5817683	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs73392222	chr11:5817732-5817733	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs35186177	chr11:5817786-5817787	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs73392226	chr11:5817797-5817798	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs547801757	chr11:5817805-5817806	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs147091209	chr11:5818400-5818401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541718109	chr11:5818411-5818412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs78432302	chr11:5818437-5818438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77107630	chr11:5818487-5818488	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs376811674	chr11:5818568-5818569	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs560194657	chr11:5818585-5818586	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs527343350	chr11:5818609-5818610	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs7949986	chr11:5818616-5818617	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs529905005	chr11:5818634-5818635	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs374748025	chr11:5818649-5818650	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs527807891	chr11:5818654-5818655	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs548083025	chr11:5818682-5818683	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs138183953	chr11:5818792-5818793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547370818	chr11:5818824-5818825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551843838	chr11:5818874-5818875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567335263	chr11:5818937-5818938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574627548	chr11:5819988-5819989	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs541799979	chr11:5819991-5819992	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs192178318	chr11:5821060-5821061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	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
Gastric cancer	17908304	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	23613489	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5812200-5812600	Enhancers	Fetal Brain Male	brain
2	chr11:5818400-5819000	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr11:5821000-5821800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr11:5821000-5824400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links