Variant report

Variant	esv3376622
Chromosome Location	chr12:119143169-119147967
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TAOK3-10	chr12:119143047-119143452	expReg_chr12_10611_-

Extended variants
information (count: 219 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:219 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554583860	chr12:119143201-119143202	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs143819016	chr12:119143238-119143239	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs75407006	chr12:119143304-119143305	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs151264636	chr12:119143314-119143315	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs533107701	chr12:119143320-119143321	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs7968705	chr12:119143340-119143341	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs140504341	chr12:119143354-119143355	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs528571737	chr12:119143439-119143440	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs548733440	chr12:119143443-119143444	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs568431497	chr12:119143461-119143462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs180714866	chr12:119143503-119143504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547084606	chr12:119143511-119143512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35871081	chr12:119143537-119143538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570338443	chr12:119143572-119143573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571075137	chr12:119143606-119143607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560690412	chr12:119143617-119143618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs35258177	chr12:119143662-119143663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs71452665	chr12:119143717-119143718	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs553129425	chr12:119143741-119143742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546289825	chr12:119143755-119143756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114936269	chr12:119143790-119143791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562883443	chr12:119143862-119143863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535170763	chr12:119143866-119143867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555221140	chr12:119143921-119143922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs150391099	chr12:119143962-119143963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs145220767	chr12:119143969-119143970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529246897	chr12:119143974-119143975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368113855	chr12:119144021-119144022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2649932	chr12:119144126-119144127	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs536160289	chr12:119144141-119144142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560374109	chr12:119144162-119144163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568077552	chr12:119144191-119144192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs75141658	chr12:119144197-119144198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs542304506	chr12:119144212-119144213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562044110	chr12:119144236-119144237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530901870	chr12:119144238-119144239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs550721977	chr12:119144243-119144244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs115147458	chr12:119144254-119144255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs533430790	chr12:119144255-119144256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186019554	chr12:119144261-119144262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs146233876	chr12:119144265-119144266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs11069057	chr12:119144277-119144278	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs76705453	chr12:119144278-119144279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs79318198	chr12:119144308-119144309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs537817393	chr12:119144362-119144363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557443876	chr12:119144412-119144413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546439486	chr12:119144478-119144479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs577745584	chr12:119144492-119144493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs138806838	chr12:119144539-119144540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs372645533	chr12:119144576-119144577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Pancreatic cancer	17952125	CNVD
Lung cancer	18172305	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119140800-119151800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:119142600-119143400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr12:119143400-119145200	Weak transcription	Right Atrium	heart
4	chr12:119143600-119145200	Enhancers	GM12878-XiMat	blood
5	chr12:119145000-119145600	ZNF genes & repeats	Esophagus	oesophagus
6	chr12:119145000-119145800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
7	chr12:119145200-119145600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
8	chr12:119145200-119145800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:119145200-119146000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:119145200-119146000	Strong transcription	Right Atrium	heart
11	chr12:119145800-119146800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr12:119146000-119147600	Weak transcription	Right Atrium	heart

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