Variant report

Variant	esv3521121
Chromosome Location	chr12:74643385-74649183
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:74642568..74645294-chr12:74647466..74649300,2	K562	blood:
2	chr12:74644729..74646901-chr12:74673133..74675574,2	K562	blood:
3	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

Extended variants
information (count: 193 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:193 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190981861	chr12:74643390-74643391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555742784	chr12:74643416-74643417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565874696	chr12:74643445-74643446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534529537	chr12:74643468-74643469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145068473	chr12:74643473-74643474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377033383	chr12:74643474-74643475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375907923	chr12:74643476-74643477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs35242842	chr12:74643477-74643478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558188039	chr12:74643481-74643482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142456065	chr12:74643490-74643491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543766414	chr12:74643608-74643609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556921646	chr12:74643615-74643616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573726545	chr12:74643629-74643630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183302718	chr12:74643634-74643635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75443250	chr12:74643682-74643683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528637799	chr12:74643690-74643691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs61932949	chr12:74643714-74643715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs510033	chr12:74643740-74643741	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs55888511	chr12:74643764-74643765	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs532869546	chr12:74643777-74643778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549928719	chr12:74643796-74643797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs17113243	chr12:74643802-74643803	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs551829047	chr12:74643864-74643865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35327447	chr12:74643878-74643879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs397850781	chr12:74643882-74643883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528934842	chr12:74643890-74643891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549262371	chr12:74643898-74643899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565842833	chr12:74643925-74643926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374402578	chr12:74643944-74643945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192759139	chr12:74643988-74643989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147210022	chr12:74644001-74644002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377758782	chr12:74644002-74644003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374612429	chr12:74644023-74644024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182396920	chr12:74644057-74644058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571455749	chr12:74644070-74644071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144683798	chr12:74644083-74644084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557080747	chr12:74644120-74644121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573688153	chr12:74644122-74644123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542615054	chr12:74644147-74644148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553223274	chr12:74644235-74644236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573473679	chr12:74644281-74644282	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs545716522	chr12:74644342-74644343	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs565312820	chr12:74644428-74644429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530041617	chr12:74644431-74644432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79570378	chr12:74644438-74644439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543532171	chr12:74644443-74644444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187834210	chr12:74644466-74644467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528849366	chr12:74644525-74644526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140325189	chr12:74644529-74644530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559565709	chr12:74644547-74644548	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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