Variant report

Variant	esv3326179
Chromosome Location	chr12:84096533-84141528
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	chr12:84138106..84138606-chr20:52739927..52740820,2	MCF-7	breast:

Extended variants
information (count: 969 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:969 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184970899	chr12:84100408-84100409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565073068	chr12:84100420-84100421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187415077	chr12:84100443-84100444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192906273	chr12:84100458-84100459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564257358	chr12:84100467-84100468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528085982	chr12:84100477-84100478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377740912	chr12:84100502-84100503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561494286	chr12:84100504-84100505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529056928	chr12:84100518-84100519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79024714	chr12:84100551-84100552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148276464	chr12:84100572-84100573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568971112	chr12:84100602-84100603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12320199	chr12:84100626-84100627	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs184711978	chr12:84100636-84100637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141302761	chr12:84100639-84100640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531611251	chr12:84100644-84100645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11561341	chr12:84100721-84100722	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs553485281	chr12:84100759-84100760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369551506	chr12:84100765-84100766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113727453	chr12:84100837-84100838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189522823	chr12:84100842-84100843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535593774	chr12:84100851-84100852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529209670	chr12:84100874-84100875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73355769	chr12:84100885-84100886	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs11531162	chr12:84100899-84100900	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs537189249	chr12:84100949-84100950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181584034	chr12:84100953-84100954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111873308	chr12:84100962-84100963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145342976	chr12:84100974-84100975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561429171	chr12:84100979-84100980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558103896	chr12:84101043-84101044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184296164	chr12:84101101-84101102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372680988	chr12:84101147-84101148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11537511	chr12:84101148-84101149	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs562653501	chr12:84101175-84101176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147280590	chr12:84101198-84101199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs61954317	chr12:84101220-84101221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551689566	chr12:84101226-84101227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539686454	chr12:84101227-84101228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528481231	chr12:84101246-84101247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546983210	chr12:84101251-84101252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551938578	chr12:84101256-84101257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374500359	chr12:84101271-84101272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs36010207	chr12:84101281-84101282	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs111229049	chr12:84101288-84101289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550805869	chr12:84101299-84101300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537772344	chr12:84101312-84101313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115102204	chr12:84101353-84101354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539693437	chr12:84101383-84101384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs28776509	chr12:84101445-84101446	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:68)

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
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
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	22522925	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:84100400-84103800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:84103800-84105400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:84104200-84105200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr12:84104600-84105200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
5	chr12:84104600-84105200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:84104800-84105200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:84105200-84105800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:84105200-84106200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:84105400-84109000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:84111200-84113400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:84112600-84113000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:84113000-84113200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:84113200-84122600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:84113400-84113800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:84113400-84113800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast

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