Variant report

Variant	esv3338125
Chromosome Location	chr12:74642585-74646883
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:74644729..74646901-chr12:74673133..74675574,2	K562	blood:
2	chr12:74642568..74645294-chr12:74647466..74649300,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNC2-3	chr12:74644265-74644361	ENSG00000257183.1
2	lnc-KCNC2-3	chr12:74642417-74642627	ENSG00000257183.1

Extended variants
information (count: 143 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555583670	chr12:74642708-74642709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs115376696	chr12:74642721-74642722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191014034	chr12:74642757-74642758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371585386	chr12:74642787-74642788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560752816	chr12:74642823-74642824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564466031	chr12:74642877-74642878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554210171	chr12:74642919-74642920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547114961	chr12:74642991-74642992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559950326	chr12:74642992-74642993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567958730	chr12:74642993-74642994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577930435	chr12:74643009-74643010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147648455	chr12:74643010-74643011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78398963	chr12:74643013-74643014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149821018	chr12:74643037-74643038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs67279021	chr12:74643110-74643111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs61383718	chr12:74643113-74643114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12819701	chr12:74643119-74643120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144854976	chr12:74643145-74643146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529559175	chr12:74643150-74643151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148583363	chr12:74643152-74643153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559498650	chr12:74643164-74643165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142805354	chr12:74643207-74643208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562883252	chr12:74643231-74643232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372903145	chr12:74643232-74643233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547428642	chr12:74643255-74643256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182845460	chr12:74643278-74643279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532911871	chr12:74643301-74643302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187153938	chr12:74643332-74643333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569701163	chr12:74643348-74643349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190981861	chr12:74643390-74643391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555742784	chr12:74643416-74643417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565874696	chr12:74643445-74643446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534529537	chr12:74643468-74643469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145068473	chr12:74643473-74643474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377033383	chr12:74643474-74643475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375907923	chr12:74643476-74643477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs35242842	chr12:74643477-74643478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558188039	chr12:74643481-74643482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142456065	chr12:74643490-74643491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543766414	chr12:74643608-74643609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556921646	chr12:74643615-74643616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573726545	chr12:74643629-74643630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183302718	chr12:74643634-74643635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75443250	chr12:74643682-74643683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528637799	chr12:74643690-74643691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs61932949	chr12:74643714-74643715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs510033	chr12:74643740-74643741	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs55888511	chr12:74643764-74643765	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs532869546	chr12:74643777-74643778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549928719	chr12:74643796-74643797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
Neurodevelopmental disorder	22521361	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
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	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
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	20409316	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74636600-74678000	Weak transcription	K562	blood

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