Variant report

Variant	esv1804639
Chromosome Location	chr12:74636043-74647180
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	chr12:74636496..74638215-chr12:74687391..74689120,2	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: 395 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:395 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17113216	chr12:74636043-74636044	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs564496196	chr12:74636073-74636074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs512585	chr12:74636100-74636101	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs560692162	chr12:74636111-74636112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112639568	chr12:74636113-74636114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs151252040	chr12:74636173-74636174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539505845	chr12:74636248-74636249	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549641198	chr12:74636294-74636295	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111395933	chr12:74636336-74636337	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs578062235	chr12:74636337-74636338	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535148332	chr12:74636350-74636351	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555661603	chr12:74636391-74636392	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs17113224	chr12:74636427-74636428	Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs534778012	chr12:74636431-74636432	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557998007	chr12:74636464-74636465	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577793423	chr12:74636466-74636467	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548636525	chr12:74636476-74636477	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543875332	chr12:74636481-74636482	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190337281	chr12:74636541-74636542	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543876957	chr12:74636544-74636545	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140463644	chr12:74636550-74636551	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148714064	chr12:74636586-74636587	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368398928	chr12:74636587-74636588	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200921008	chr12:74636588-74636589	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11179992	chr12:74636607-74636608	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs36022360	chr12:74636688-74636689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555014300	chr12:74636698-74636699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35902518	chr12:74636699-74636700	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs397776853	chr12:74636711-74636712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201700331	chr12:74636712-74636713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182581127	chr12:74636751-74636752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559590060	chr12:74636815-74636816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368278249	chr12:74636869-74636870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551693813	chr12:74636905-74636906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565456120	chr12:74636958-74636959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531061193	chr12:74636996-74636997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551309641	chr12:74637063-74637064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184355476	chr12:74637105-74637106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189109760	chr12:74637137-74637138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535396146	chr12:74637146-74637147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571200149	chr12:74637200-74637201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376736177	chr12:74637286-74637287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549019284	chr12:74637287-74637288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115358095	chr12:74637343-74637344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181135059	chr12:74637344-74637345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534051756	chr12:74637374-74637375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557793273	chr12:74637377-74637378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577763783	chr12:74637412-74637413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547276607	chr12:74637436-74637437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567425933	chr12:74637438-74637439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74635200-74636200	Weak transcription	K562	blood
2	chr12:74636000-74636400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr12:74636000-74636800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr12:74636200-74636600	Strong transcription	K562	blood
5	chr12:74636600-74678000	Weak transcription	K562	blood
6	chr12:74640200-74640600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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