Variant report

Variant	esv3391183
Chromosome Location	chr12:74551235-74553733
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	chr12:74547425..74549185-chr12:74551970..74554441,2	MCF-7	breast:
2	chr12:74552737..74556720-chr12:74559479..74564261,5	K562	blood:

Variant related genes	Relation type
ENSG00000258320	chromatin interactions

Extended variants
information (count: 106 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187212896	chr12:74551240-74551241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559047955	chr12:74551265-74551266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566036930	chr12:74551294-74551295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369180168	chr12:74551297-74551298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536885752	chr12:74551341-74551342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76201178	chr12:74551358-74551359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35228330	chr12:74551376-74551377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567666914	chr12:74551386-74551387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536606225	chr12:74551411-74551412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191908077	chr12:74551426-74551427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34127651	chr12:74551462-74551463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566918123	chr12:74551466-74551467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539329175	chr12:74551496-74551497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559326785	chr12:74551539-74551540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575884704	chr12:74551540-74551541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79978290	chr12:74551569-74551570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574455703	chr12:74551581-74551582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575154617	chr12:74551599-74551600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182826691	chr12:74551611-74551612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573665107	chr12:74551655-74551656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551673538	chr12:74551663-74551664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558922102	chr12:74551664-74551665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188340946	chr12:74551688-74551689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543726897	chr12:74551829-74551830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544890094	chr12:74551931-74551932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557183231	chr12:74551944-74551945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577035745	chr12:74552000-74552001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564866165	chr12:74552004-74552005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539678675	chr12:74552009-74552010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530695248	chr12:74552052-74552053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs79120411	chr12:74552112-74552113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555311033	chr12:74552134-74552135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368526465	chr12:74552135-74552136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192757594	chr12:74552136-74552137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183715845	chr12:74552138-74552139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369974240	chr12:74552149-74552150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12300333	chr12:74552158-74552159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550902779	chr12:74552162-74552163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147733871	chr12:74552163-74552164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200814861	chr12:74552176-74552177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201624168	chr12:74552178-74552179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs199937823	chr12:74552181-74552182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564362118	chr12:74552187-74552188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201415957	chr12:74552195-74552196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572200903	chr12:74552201-74552202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150151226	chr12:74552202-74552203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs56402819	chr12:74552204-74552205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71893530	chr12:74552205-74552206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs398020138	chr12:74552220-74552221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34517794	chr12:74552222-74552223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74548800-74563400	Weak transcription	K562	blood

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