Variant report

Variant	esv3473852
Chromosome Location	chr11:5879976-5884874
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	CTCF	chr11:5881260-5881410	K562	blood:	n/a	n/a
2	POLR2A	chr11:5882397-5882439	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr11:5881104-5881191	MCF10A-Er-Src	breast:	n/a	n/a
4	TAL1	chr11:5881484-5881548	K562	blood:	n/a	n/a
5	USF2	chr11:5882286-5882289	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:5877485..5879588-chr11:5881678..5883680,2	K562	blood:
2	chr11:5884568..5886582-chr11:5891480..5894269,2	K562	blood:

Variant related genes	Relation type
OR52E8	TF binding region
ENSG00000183269	chromatin interactions
ENSG00000132256	chromatin interactions

Extended variants
information (count: 125 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143130530	chr11:5881135-5881136	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs560802421	chr11:5881142-5881143	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs553663294	chr11:5881159-5881160	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs574378948	chr11:5881165-5881166	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs542692107	chr11:5881185-5881186	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs180889082	chr11:5881285-5881286	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs577428428	chr11:5881403-5881404	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs562458582	chr11:5881487-5881488	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs548832072	chr11:5881497-5881498	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs563747840	chr11:5881502-5881503	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs10642411	chr11:5881520-5881521	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs35641836	chr11:5881521-5881522	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs397736292	chr11:5881523-5881524	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs199970186	chr11:5881524-5881525	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs531315733	chr11:5881531-5881532	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs112672741	chr11:5881548-5881549	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs6578696	chr11:5881694-5881695	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs10838742	chr11:5881696-5881697	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs10642412	chr11:5881710-5881711	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs10656894	chr11:5881711-5881712	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs375590014	chr11:5881712-5881713	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs66963805	chr11:5881738-5881739	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs11389074	chr11:5881755-5881756	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs547171717	chr11:5881808-5881809	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs10838743	chr11:5881842-5881843	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs556784527	chr11:5881890-5881891	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs9300061	chr11:5881900-5881901	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs538102908	chr11:5881903-5881904	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs568602170	chr11:5881915-5881916	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs112003604	chr11:5881944-5881945	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs34727979	chr11:5882003-5882004	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs369910954	chr11:5882022-5882023	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs577826626	chr11:5882058-5882059	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs34298416	chr11:5882115-5882116	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs541325933	chr11:5882119-5882120	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs10569052	chr11:5882122-5882123	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs199818804	chr11:5882123-5882124	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs553613247	chr11:5882124-5882125	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs575235861	chr11:5882128-5882129	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs542436280	chr11:5882148-5882149	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs182925179	chr11:5882162-5882163	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs530985335	chr11:5882167-5882168	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs141706765	chr11:5882168-5882169	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs564294260	chr11:5882215-5882216	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs10838744	chr11:5882235-5882236	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs116689931	chr11:5882270-5882271	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs571984241	chr11:5882286-5882287	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs7104578	chr11:5882294-5882295	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs529191612	chr11:5882403-5882404	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs188478878	chr11:5882444-5882445	Inactive region	Chromatin interactive region	1 gene(s)	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
Pancreatic cancer	23613489	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Type 2 diabetes	21526130	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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