Variant report

Variant	nsv975142
Chromosome Location	chr11:4495883-4497102
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	POLR2A	chr11:4496380-4496468	A549	lung:	n/a	n/a
2	POLR2A	chr11:4496494-4496541	A549	lung:	n/a	n/a

Variant related genes	Relation type
OR52K3P	TF binding region

Extended variants
information (count: 83 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542401041	chr11:4495915-4495916	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560937152	chr11:4495916-4495917	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531238533	chr11:4495919-4495920	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs57648893	chr11:4495939-4495940	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs376811516	chr11:4495956-4495957	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73425756	chr11:4495960-4495961	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532148108	chr11:4495972-4495973	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574201674	chr11:4495980-4495981	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371248314	chr11:4496040-4496041	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543206248	chr11:4496050-4496051	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201922819	chr11:4496052-4496053	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566585526	chr11:4496070-4496071	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141254257	chr11:4496087-4496088	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184243089	chr11:4496100-4496101	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567628499	chr11:4496107-4496108	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116964505	chr11:4496108-4496109	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545681718	chr11:4496119-4496120	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571989716	chr11:4496124-4496125	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539186688	chr11:4496155-4496156	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189650895	chr11:4496158-4496159	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs167946	chr11:4496173-4496174	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572601784	chr11:4496182-4496183	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542687180	chr11:4496193-4496194	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182070826	chr11:4496206-4496207	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs331504	chr11:4496212-4496213	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs331505	chr11:4496218-4496219	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs187423140	chr11:4496224-4496225	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190446715	chr11:4496234-4496235	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565483205	chr11:4496236-4496237	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540967116	chr11:4496249-4496250	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559494087	chr11:4496280-4496281	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529874395	chr11:4496292-4496293	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527263762	chr11:4496300-4496301	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138107416	chr11:4496317-4496318	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547019149	chr11:4496344-4496345	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567668678	chr11:4496379-4496380	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531707449	chr11:4496405-4496406	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs550199914	chr11:4496406-4496407	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs60459115	chr11:4496416-4496417	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs539338674	chr11:4496427-4496428	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs181661648	chr11:4496442-4496443	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs566251580	chr11:4496478-4496479	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs28648512	chr11:4496492-4496493	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs554621829	chr11:4496493-4496494	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576061290	chr11:4496506-4496507	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185557362	chr11:4496508-4496509	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558119811	chr11:4496524-4496525	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190182699	chr11:4496542-4496543	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540905522	chr11:4496568-4496569	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559421441	chr11:4496569-4496570	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4488000-4496000	Weak transcription	Gastric	stomach
2	chr11:4488600-4501800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:4495600-4496000	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr11:4495800-4497800	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr11:4496000-4496200	Enhancers	Gastric	stomach
6	chr11:4496000-4496400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
7	chr11:4496400-4497000	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr11:4497000-4501200	Weak transcription	Primary monocytes fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links