Variant report

Variant	esv3436481
Chromosome Location	chr12:46427785-46431983
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	chr12:46424597..46426625-chr12:46428577..46431256,2	MCF-7	breast:

Extended variants
information (count: 137 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544628503	chr12:46427874-46427875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs561309343	chr12:46427903-46427904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185362231	chr12:46427906-46427907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540400493	chr12:46427915-46427916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542617615	chr12:46427956-46427957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139537921	chr12:46427977-46427978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532613361	chr12:46427988-46427989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190171386	chr12:46428012-46428013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569217058	chr12:46428078-46428079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371621457	chr12:46428122-46428123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs7305576	chr12:46428129-46428130	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs550157791	chr12:46428135-46428136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs367776268	chr12:46428150-46428151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146631073	chr12:46428156-46428157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536328443	chr12:46428166-46428167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552806862	chr12:46428186-46428187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111969369	chr12:46428188-46428189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs78742885	chr12:46428217-46428218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558852633	chr12:46428262-46428263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575604069	chr12:46428282-46428283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544567186	chr12:46428284-46428285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs554981101	chr12:46428311-46428312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543627070	chr12:46428323-46428324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574775260	chr12:46428344-46428345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182655731	chr12:46428359-46428360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560405485	chr12:46428391-46428392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs149824498	chr12:46428475-46428476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs115349601	chr12:46428505-46428506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543613961	chr12:46428506-46428507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531862559	chr12:46428655-46428656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs370371168	chr12:46428673-46428674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs11514434	chr12:46428674-46428675	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs529676975	chr12:46428699-46428700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188576025	chr12:46428720-46428721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs566456071	chr12:46428726-46428727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538781893	chr12:46428727-46428728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558785367	chr12:46428753-46428754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113067934	chr12:46428804-46428805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113468210	chr12:46428842-46428843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563762985	chr12:46428852-46428853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532356859	chr12:46428882-46428883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs149048980	chr12:46428886-46428887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs554584199	chr12:46428911-46428912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs143082162	chr12:46428926-46428927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs147764770	chr12:46428965-46428966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs11561397	chr12:46428974-46428975	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs577263699	chr12:46428977-46428978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184016722	chr12:46428997-46428998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs111463538	chr12:46429840-46429841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570484451	chr12:46429868-46429869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
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
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Gastric cancer	18160780	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21542898	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46427200-46429000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:46428200-46428800	Enhancers	Hela-S3	cervix
3	chr12:46429800-46437400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:46430600-46431000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr12:46430800-46431000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:46430800-46431400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr12:46431000-46431400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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