Variant report

Variant	nsv559410
Chromosome Location	chr12:74646244-74649938
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	chr12:74642568..74645294-chr12:74647466..74649300,2	K562	blood:
2	chr12:74644729..74646901-chr12:74673133..74675574,2	K562	blood:

Extended variants
information (count: 116 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs638404	chr12:74646304-74646305	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566957052	chr12:74646321-74646322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141547280	chr12:74646400-74646401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111723752	chr12:74646417-74646418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs74744288	chr12:74646424-74646425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569309359	chr12:74646466-74646467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190256994	chr12:74646468-74646469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555349338	chr12:74646471-74646472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539216974	chr12:74646490-74646491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534413657	chr12:74646726-74646727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558407744	chr12:74646796-74646797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192567128	chr12:74646834-74646835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371659759	chr12:74646875-74646876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572909269	chr12:74646923-74646924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544809912	chr12:74646967-74646968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558107403	chr12:74646985-74646986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574940304	chr12:74647017-74647018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544089727	chr12:74647086-74647087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560857490	chr12:74647128-74647129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529801534	chr12:74647179-74647180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540442159	chr12:74647250-74647251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184952906	chr12:74647316-74647317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34483949	chr12:74647319-74647320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533041690	chr12:74647334-74647335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572113763	chr12:74647347-74647348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139411407	chr12:74647348-74647349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534371232	chr12:74647420-74647421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150054058	chr12:74647459-74647460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548860287	chr12:74647505-74647506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568774481	chr12:74647525-74647526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369810444	chr12:74647530-74647531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372024429	chr12:74647542-74647543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534098530	chr12:74647543-74647544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554327601	chr12:74647560-74647561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570982919	chr12:74647564-74647565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189071175	chr12:74647582-74647583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7133578	chr12:74647585-74647586	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs140747277	chr12:74647599-74647600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs61696154	chr12:74647660-74647661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs180769681	chr12:74647725-74647726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147915099	chr12:74647727-74647728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554815599	chr12:74647736-74647737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540196197	chr12:74647801-74647802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574795477	chr12:74647803-74647804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560273865	chr12:74647819-74647820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148953405	chr12:74647828-74647829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546311171	chr12:74647848-74647849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34801026	chr12:74647875-74647876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191090852	chr12:74647890-74647891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139586827	chr12:74647895-74647896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74636600-74678000	Weak transcription	K562	blood
2	chr12:74649800-74650200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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