Variant report

Variant	nsv515643
Chromosome Location	chr11:4806872-4811933
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	chr11:4811479-4811616	K562	blood:	n/a	n/a
2	CTCF	chr11:4807280-4807430	HEK293	kidney:	n/a	n/a
3	FOS	chr11:4810380-4810394	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr11:4808200-4808232	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	11:4801044-4820112..11:5700314-5707362	H1-hESC	embryonic stem cell:	embryo
2	chr11:4806483..4808284-chr11:4810226..4812694,2	K562	blood:

Variant related genes	Relation type
OR51N1P	TF binding region
ENSG00000176951	chromatin interactions
ENSG00000132256	chromatin interactions

Extended variants
information (count: 236 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:236 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12806476	chr11:4806872-4806873	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs567275623	chr11:4806977-4806978	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs550605284	chr11:4806997-4806998	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs570564718	chr11:4807027-4807028	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs12801757	chr11:4807054-4807055	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs371717973	chr11:4807075-4807076	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs71480268	chr11:4807090-4807091	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs2412432	chr11:4807092-4807093	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs184425802	chr11:4807110-4807111	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs369575178	chr11:4807171-4807172	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs188387082	chr11:4807186-4807187	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs34238074	chr11:4807199-4807200	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs369272371	chr11:4807209-4807210	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs577550456	chr11:4807211-4807212	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs114604593	chr11:4807246-4807247	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs529256144	chr11:4807274-4807275	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs145704480	chr11:4807278-4807279	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs73399067	chr11:4807301-4807302	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs79533604	chr11:4807308-4807309	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs559742253	chr11:4807322-4807323	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs77937412	chr11:4807368-4807369	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs1368828	chr11:4807374-4807375	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs1368827	chr11:4807383-4807384	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs111642236	chr11:4807385-4807386	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs4569002	chr11:4807387-4807388	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs1368826	chr11:4807392-4807393	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs114722936	chr11:4807419-4807420	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs16938617	chr11:4807447-4807448	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs531107630	chr11:4807507-4807508	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs17325477	chr11:4807512-4807513	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs115676130	chr11:4807535-4807536	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs16938619	chr11:4807548-4807549	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs571249800	chr11:4807558-4807559	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs538940643	chr11:4807589-4807590	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs17227809	chr11:4807618-4807619	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs181870211	chr11:4807638-4807639	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs565128737	chr11:4807645-4807646	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs540182712	chr11:4807656-4807657	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs371146812	chr11:4807716-4807717	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs397849613	chr11:4807724-4807725	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs111702518	chr11:4807728-4807729	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs140950716	chr11:4807739-4807740	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs550835364	chr11:4807750-4807751	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs66987352	chr11:4807752-4807753	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs554331125	chr11:4807773-4807774	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs58698481	chr11:4807784-4807785	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs544276994	chr11:4807787-4807788	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs118136036	chr11:4807794-4807795	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs577923484	chr11:4807920-4807921	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs545687852	chr11:4807928-4807929	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Bipolar disorder	19114987	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	23813976	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4808000-4808400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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