Variant report

Variant	esv12319
Chromosome Location	chr11:5207495-5214618
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	E2F4	chr11:5207722-5207994	MCF10A-Er-Src	breast:	n/a	n/a
2	NFYB	chr11:5208248-5208523	K562	blood:	n/a	chr11:5208376-5208386
3	POLR2A	chr11:5211455-5211559	Gliobla	brain:	n/a	n/a
4	RFX5	chr11:5208996-5209108	K562	blood:	n/a	n/a
5	STAT3	chr11:5213681-5213881	MCF10A-Er-Src	breast:	n/a	n/a
6	ZNF274	chr11:5213458-5214108	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:5149697..5151826-chr11:5212442..5214718,2	K562	blood:
2	chr11:5152006..5154660-chr11:5213226..5215210,2	K562	blood:
3	chr11:5208760..5213541-chr11:5217325..5221735,4	K562	blood:

Variant related genes	Relation type
OR52A1	TF binding region
ENSG00000171944	chromatin interactions

Extended variants
information (count: 124 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569170572	chr11:5207739-5207740	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs188475714	chr11:5207757-5207758	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs181066571	chr11:5207775-5207776	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs79822791	chr11:5207824-5207825	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs533621596	chr11:5207864-5207865	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs74575214	chr11:5207873-5207874	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs549048936	chr11:5207874-5207875	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs552752540	chr11:5207888-5207889	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs6421045	chr11:5207915-5207916	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs148406785	chr11:5207919-5207920	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs552760283	chr11:5207935-5207936	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs557175136	chr11:5207964-5207965	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs575493135	chr11:5207968-5207969	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs142494711	chr11:5208249-5208250	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs570339035	chr11:5208262-5208263	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs146462523	chr11:5208264-5208265	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs556365942	chr11:5208278-5208279	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs34198979	chr11:5208279-5208280	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs10654717	chr11:5208286-5208287	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs34648722	chr11:5208287-5208288	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs71050472	chr11:5208290-5208291	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs200092009	chr11:5208291-5208292	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs527259938	chr11:5208386-5208387	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs185549018	chr11:5208388-5208389	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs7939459	chr11:5208393-5208394	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs367733343	chr11:5208396-5208397	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs188000544	chr11:5208426-5208427	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs181063445	chr11:5208437-5208438	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs74370727	chr11:5208438-5208439	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs539711897	chr11:5208448-5208449	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs140889105	chr11:5208468-5208469	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs145840425	chr11:5208490-5208491	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs371822933	chr11:5208519-5208520	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs551732274	chr11:5209001-5209002	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs183368438	chr11:5209004-5209005	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs7479443	chr11:5209013-5209014	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs7482952	chr11:5209038-5209039	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs574769860	chr11:5209040-5209041	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs201451334	chr11:5209064-5209065	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs138481906	chr11:5209067-5209068	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs67484300	chr11:5209068-5209069	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs71050473	chr11:5209069-5209070	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs199837802	chr11:5209070-5209071	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs200695037	chr11:5209071-5209072	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs567685478	chr11:5209098-5209099	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs185965718	chr11:5209101-5209102	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs7479475	chr11:5209105-5209106	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs575623075	chr11:5211494-5211495	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs74765645	chr11:5211496-5211497	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs114742645	chr11:5211522-5211523	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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