Variant report

Variant	esv3493003
Chromosome Location	chr12:33823385-33825633
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	chr12:33817225..33819690-chr12:33823230..33824769,2	MCF-7	breast:

Extended variants
information (count: 96 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567787559	chr12:33823408-33823409	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs559721332	chr12:33823463-33823464	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs111782579	chr12:33823467-33823468	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs148325870	chr12:33823475-33823476	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs568447497	chr12:33823490-33823491	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs190152478	chr12:33823507-33823508	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs550066388	chr12:33823514-33823515	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs569650472	chr12:33823554-33823555	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs538424965	chr12:33823572-33823573	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs558377888	chr12:33823594-33823595	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs34038278	chr12:33823609-33823610	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565396706	chr12:33823616-33823617	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74319882	chr12:33823624-33823625	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554238649	chr12:33823677-33823678	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150354349	chr12:33823683-33823684	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373315085	chr12:33823712-33823713	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558816449	chr12:33823721-33823722	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557663039	chr12:33823747-33823748	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577656254	chr12:33823763-33823764	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377505163	chr12:33823818-33823819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372016972	chr12:33823839-33823840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111639913	chr12:33823850-33823851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559999973	chr12:33823857-33823858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143607896	chr12:33823869-33823870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182227678	chr12:33823884-33823885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561900865	chr12:33823890-33823891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564883299	chr12:33823895-33823896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530920155	chr12:33823901-33823902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201033521	chr12:33823915-33823916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186266986	chr12:33823926-33823927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147228577	chr12:33823934-33823935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532283955	chr12:33823937-33823938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371434838	chr12:33823940-33823941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188037494	chr12:33823975-33823976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534385337	chr12:33823981-33823982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140602541	chr12:33824066-33824067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs180896466	chr12:33824086-33824087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185201536	chr12:33824087-33824088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149258018	chr12:33824098-33824099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577575639	chr12:33824117-33824118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540142484	chr12:33824128-33824129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553577732	chr12:33824138-33824139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144419159	chr12:33824174-33824175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191330199	chr12:33824305-33824306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562190466	chr12:33824340-33824341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183208257	chr12:33824342-33824343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186918739	chr12:33824398-33824399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10844680	chr12:33824418-33824419	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs532245406	chr12:33824443-33824444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550014112	chr12:33824455-33824456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chordoma	18071362	CNVD
Lung cancer	18438408	CNVD
Cancer	21272361	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Tetralogy of Fallot	22912587	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:33820800-33823400	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr12:33821000-33824200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr12:33821600-33823800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr12:33822400-33823600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:33822400-33825000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr12:33822400-33825800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr12:33822600-33825800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr12:33823000-33823400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:33823200-33823800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr12:33823400-33823600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:33823400-33823800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr12:33823600-33825400	Enhancers	H9 Cell Line	embryonic stem cell
13	chr12:33823600-33825800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:33823800-33824000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr12:33823800-33824200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr12:33823800-33826600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr12:33824000-33824400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr12:33824200-33824600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr12:33824200-33825800	Enhancers	H1 Cell Line	embryonic stem cell
20	chr12:33824200-33826200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr12:33824400-33825400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr12:33824400-33826400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr12:33824600-33827000	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr12:33825600-33826200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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