Variant report

Variant	esv15173
Chromosome Location	chr12:44586517-44593277
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	chr12:44588166..44590207-chr12:44592125..44594551,2	MCF-7	breast:
2	chr12:44588166..44590207-chr12:44592125..44594551,2	MCF-7	breast:

Extended variants
information (count: 244 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:244 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78349871	chr12:44586524-44586525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138745909	chr12:44586561-44586562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs61629163	chr12:44586567-44586568	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs550270185	chr12:44586570-44586571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572081894	chr12:44586573-44586574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535891612	chr12:44586633-44586634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542713352	chr12:44586645-44586646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566685583	chr12:44586723-44586724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs75198065	chr12:44586726-44586727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188400820	chr12:44586745-44586746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192639836	chr12:44586803-44586804	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs184742855	chr12:44586860-44586861	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs188192532	chr12:44586996-44586997	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs539015660	chr12:44587010-44587011	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs564033952	chr12:44587011-44587012	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs531970304	chr12:44587015-44587016	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs180677919	chr12:44587101-44587102	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs184864012	chr12:44587114-44587115	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs531423788	chr12:44587124-44587125	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs561320641	chr12:44587143-44587144	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs148928106	chr12:44587144-44587145	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs111612977	chr12:44587185-44587186	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs565196983	chr12:44587276-44587277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114943850	chr12:44587347-44587348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189279033	chr12:44587364-44587365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568638930	chr12:44587376-44587377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536891871	chr12:44587393-44587394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34797909	chr12:44587399-44587400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529778068	chr12:44587467-44587468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547914764	chr12:44587481-44587482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148109082	chr12:44587484-44587485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369364709	chr12:44587503-44587504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7959529	chr12:44587506-44587507	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs552510735	chr12:44587513-44587514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570726890	chr12:44587598-44587599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565683638	chr12:44587722-44587723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565405756	chr12:44587789-44587790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs202138831	chr12:44587791-44587792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs7310881	chr12:44587811-44587812	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs201175417	chr12:44587820-44587821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548306605	chr12:44587890-44587891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs113973015	chr12:44587894-44587895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182114226	chr12:44587909-44587910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs569615467	chr12:44587921-44587922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569648940	chr12:44587924-44587925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186648470	chr12:44587934-44587935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs190121093	chr12:44587950-44587951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs369865663	chr12:44588059-44588060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs181341533	chr12:44588071-44588072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs540227604	chr12:44588127-44588128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Acute lymphoblastic leukemia	21390130	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	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
Cancer	20164919	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	19039135	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Prostate cancer	18632612	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44511400-44605800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:44574000-44595600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:44580400-44586600	Weak transcription	GM12878-XiMat	blood
4	chr12:44584000-44586800	Weak transcription	HSMMtube	muscle
5	chr12:44586600-44586800	Enhancers	GM12878-XiMat	blood
6	chr12:44586800-44587200	Flanking Active TSS	GM12878-XiMat	blood
7	chr12:44586800-44587600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr12:44587200-44588200	Enhancers	GM12878-XiMat	blood

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