Variant report

Variant	esv2456022
Chromosome Location	chr11:4801851-4803574
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	chr11:4802820-4802858	K562	blood:	n/a	chr11:4802839-4802852 chr11:4802839-4802852 chr11:4802841-4802852
2	CTCF	chr11:4802760-4802868	K562	blood:	n/a	n/a
3	CTCF	chr11:4802939-4802988	ProgFib	skin:	n/a	n/a
4	FOXA2	chr11:4802771-4802912	A549	lung:	n/a	n/a
5	FOXA2	chr11:4802582-4803047	A549	lung:	n/a	n/a
6	FOXP2	chr11:4802787-4803011	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr11:4802784-4802853	SK-N-SH	brain:	n/a	n/a
8	SETDB1	chr11:4803085-4803277	U2OS	brain:	n/a	n/a
9	ZBTB33	chr11:4802862-4803213	K562	blood:	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

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

Extended variants
information (count: 73 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11033847	chr11:4801864-4801865	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs118142528	chr11:4801920-4801921	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs76246302	chr11:4801988-4801989	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs67119549	chr11:4802023-4802024	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs565962013	chr11:4802060-4802061	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs201302993	chr11:4802069-4802070	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs71480715	chr11:4802072-4802073	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs182357135	chr11:4802075-4802076	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs545337742	chr11:4802127-4802128	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs554081003	chr11:4802128-4802129	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs572148504	chr11:4802158-4802159	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs377250058	chr11:4802159-4802160	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs187410784	chr11:4802185-4802186	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs190450652	chr11:4802252-4802253	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs71480716	chr11:4802267-4802268	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs544274896	chr11:4802272-4802273	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs562574554	chr11:4802279-4802280	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs533119836	chr11:4802287-4802288	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs551677458	chr11:4802420-4802421	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs183063986	chr11:4802429-4802430	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs534485191	chr11:4802433-4802434	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs187032846	chr11:4802461-4802462	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs549603379	chr11:4802477-4802478	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs2898965	chr11:4802483-4802484	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs537980651	chr11:4802534-4802535	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs556259436	chr11:4802544-4802545	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs571286658	chr11:4802568-4802569	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs558704713	chr11:4802570-4802571	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs538592155	chr11:4802583-4802584	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs11033849	chr11:4802631-4802632	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs190325936	chr11:4802640-4802641	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs373897185	chr11:4802649-4802650	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs572344816	chr11:4802663-4802664	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs542554680	chr11:4802667-4802668	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs576157979	chr11:4802669-4802670	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs554777170	chr11:4802734-4802735	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs538832227	chr11:4802740-4802741	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs576138787	chr11:4802758-4802759	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs558768592	chr11:4802779-4802780	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs369219069	chr11:4802829-4802830	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs373488928	chr11:4802830-4802831	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs375618719	chr11:4802831-4802832	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs369997302	chr11:4802832-4802833	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs2898964	chr11:4802858-4802859	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs562613068	chr11:4802881-4802882	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs2412433	chr11:4802903-4802904	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs149838118	chr11:4802910-4802911	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs560284887	chr11:4802918-4802919	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs528018973	chr11:4802982-4802983	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs549398634	chr11:4803011-4803012	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

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

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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