Variant report

Variant	nsv8779
Chromosome Location	chr11:4541190-4559501
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	chr11:4544032-4544147	K562	blood:	n/a	n/a
2	CEBPB	chr11:4551821-4552021	A549	lung:	n/a	n/a
3	CTCF	chr11:4553200-4553350	HepG2	liver:	n/a	n/a
4	CTCF	chr11:4553060-4553210	HEK293	kidney:	n/a	n/a
5	FOXA1	chr11:4552938-4553229	HepG2	liver:	n/a	n/a
6	FOXA1	chr11:4544814-4545188	T-47D	breast:	n/a	n/a
7	FOXA1	chr11:4552908-4553323	HepG2	liver:	n/a	n/a
8	FOXA1	chr11:4544928-4545202	T-47D	breast:	n/a	n/a
9	FOXA1	chr11:4552960-4553216	HepG2	liver:	n/a	n/a
10	FOXA1	chr11:4552836-4553357	HepG2	liver:	n/a	n/a
11	FOXA2	chr11:4552973-4553221	HepG2	liver:	n/a	n/a
12	IRF1	chr11:4552522-4552722	K562	blood:	n/a	chr11:4552643-4552656 chr11:4552641-4552655 chr11:4552639-4552653 chr11:4552645-4552656 chr11:4552643-4552656 chr11:4552637-4552650 chr11:4552643-4552656 chr11:4552637-4552657 chr11:4552644-4552661 chr11:4552642-4552656 chr11:4552645-4552659 chr11:4552646-4552657 chr11:4552645-4552655
13	KAP1	chr11:4552868-4553363	HEK293	kidney:	n/a	n/a
14	KAP1	chr11:4552995-4553389	U2OS	brain:	n/a	n/a
15	MAFK	chr11:4549304-4549306	K562	blood:	n/a	n/a
16	POLR2A	chr11:4552750-4552922	A549	lung:	n/a	n/a
17	POLR2A	chr11:4552838-4552901	Gliobla	brain:	n/a	n/a
18	POLR2A	chr11:4553038-4553114	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr11:4546144-4546435	H1-neurons	neurons:	n/a	n/a
20	POLR2A	chr11:4541969-4542017	Gliobla	brain:	n/a	n/a
21	POLR2A	chr11:4553027-4553040	Gliobla	brain:	n/a	n/a
22	POLR2A	chr11:4552772-4552829	Gliobla	brain:	n/a	n/a
23	POLR2A	chr11:4551350-4551385	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr11:4553062-4553194	Gliobla	brain:	n/a	n/a
25	REST	chr11:4547789-4547989	H1-hESC	embryonic stem cell:	n/a	n/a
26	REST	chr11:4547681-4548136	HL-60	blood:	n/a	n/a
27	REST	chr11:4547747-4547999	MCF-7	breast:	n/a	n/a
28	REST	chr11:4547795-4548027	H1-hESC	embryonic stem cell:	n/a	n/a
29	REST	chr11:4547788-4548072	K562	blood:	n/a	n/a
30	REST	chr11:4547717-4548047	ECC-1	luminal epithelium:	n/a	n/a
31	SETDB1	chr11:4552942-4553317	U2OS	brain:	n/a	n/a
32	STAT3	chr11:4543239-4543418	MCF10A-Er-Src	breast:	n/a	n/a
33	STAT3	chr11:4549813-4549956	MCF10A-Er-Src	breast:	n/a	n/a
34	TBL1XR1	chr11:4549953-4549982	K562	blood:	n/a	n/a
35	TCF7L2	chr11:4550517-4550730	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:4535006..4537782-chr11:4538961..4542552,3	K562	blood:
2	chr11:4544362..4546597-chr11:4548286..4550810,3	K562	blood:
3	chr11:4544362..4546597-chr11:4548286..4550810,3	K562	blood:
4	chr11:4558523..4560457-chr11:4563023..4565124,2	K562	blood:

Variant related genes	Relation type
OR52M2P	TF binding region
ENSG00000226616	chromatin interactions

Extended variants
information (count: 286 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:286 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187109207	chr11:4541190-4541191	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs78576395	chr11:4541200-4541201	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs2566203	chr11:4541251-4541252	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs577437752	chr11:4541254-4541255	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs541724957	chr11:4541284-4541285	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs200108212	chr11:4541304-4541305	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs75415729	chr11:4541307-4541308	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs71933559	chr11:4541308-4541309	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs34021573	chr11:4541309-4541310	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs78497292	chr11:4541341-4541342	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs73439813	chr11:4541403-4541404	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs372016773	chr11:4541466-4541467	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs542483361	chr11:4541508-4541509	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs375007875	chr11:4541566-4541567	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs146102333	chr11:4541589-4541590	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs189477550	chr11:4541631-4541632	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs551862448	chr11:4541650-4541651	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs148748312	chr11:4541678-4541679	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs528110663	chr11:4541688-4541689	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs551232128	chr11:4541716-4541717	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs367624202	chr11:4541724-4541725	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs546469968	chr11:4541725-4541726	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs571222399	chr11:4541746-4541747	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs568059041	chr11:4541756-4541757	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs535259960	chr11:4541771-4541772	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs550368257	chr11:4541776-4541777	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs141453718	chr11:4541796-4541797	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs150772754	chr11:4541802-4541803	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs113874710	chr11:4541839-4541840	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs577152498	chr11:4541841-4541842	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs2566202	chr11:4541853-4541854	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs551884369	chr11:4541871-4541872	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs181588477	chr11:4541878-4541879	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs575221206	chr11:4541900-4541901	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs139127156	chr11:4541901-4541902	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs148700317	chr11:4541915-4541916	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs117625147	chr11:4541971-4541972	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs73439815	chr11:4541983-4541984	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs147416706	chr11:4541986-4541987	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs545869611	chr11:4542034-4542035	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs73439816	chr11:4542119-4542120	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs191055494	chr11:4542132-4542133	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs117421267	chr11:4542138-4542139	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs369369775	chr11:4542169-4542170	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs145319271	chr11:4542212-4542213	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs548915462	chr11:4542242-4542243	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs144439685	chr11:4542255-4542256	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs558457586	chr11:4542256-4542257	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs183062578	chr11:4542295-4542296	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs578197000	chr11:4542298-4542299	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Autism	22495311	CNVD
Lung cancer	18438408	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
Bipolar disorder	19114987	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4542800-4544200	Enhancers	Primary T cells from cord blood	blood
2	chr11:4544600-4545600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr11:4544800-4545400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr11:4548200-4548600	Enhancers	Esophagus	oesophagus
5	chr11:4552800-4553000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr11:4552800-4553200	Enhancers	Placenta	Placenta
7	chr11:4552800-4553200	Active TSS	Stomach Smooth Muscle	stomach
8	chr11:4552800-4553400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr11:4552800-4553400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
10	chr11:4552800-4553400	Enhancers	Esophagus	oesophagus

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