Variant report

Variant	esv13197
Chromosome Location	chr12:59968566-59970851
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	chr12:59970227..59972157-chr12:59989473..59991716,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000118596	chromatin interactions

Extended variants
information (count: 104 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11424942	chr12:59968579-59968580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552073776	chr12:59968583-59968584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77103462	chr12:59968653-59968654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35632172	chr12:59968654-59968655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs386376685	chr12:59968657-59968658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs5798500	chr12:59968660-59968661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185980795	chr12:59968665-59968666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140427506	chr12:59968735-59968736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549156859	chr12:59968770-59968771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146168957	chr12:59968796-59968797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537959042	chr12:59968807-59968808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs369458754	chr12:59968818-59968819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532023979	chr12:59968837-59968838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549827275	chr12:59968855-59968856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs138887546	chr12:59968861-59968862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs372623217	chr12:59968864-59968865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs4760290	chr12:59968872-59968873	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs554067956	chr12:59968915-59968916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201210616	chr12:59968933-59968934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs4760291	chr12:59968967-59968968	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs191256057	chr12:59969046-59969047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182397930	chr12:59969099-59969100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141377021	chr12:59969109-59969110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576265932	chr12:59969129-59969130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543560409	chr12:59969138-59969139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs369300727	chr12:59969143-59969144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs10747847	chr12:59969179-59969180	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs576801556	chr12:59969202-59969203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs80107517	chr12:59969235-59969236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560881872	chr12:59969252-59969253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146982901	chr12:59969263-59969264	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542872616	chr12:59969269-59969270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs137998756	chr12:59969285-59969286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10747848	chr12:59969312-59969313	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs10747849	chr12:59969332-59969333	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs61936275	chr12:59969334-59969335	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs79164747	chr12:59969366-59969367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377675291	chr12:59969400-59969401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547469875	chr12:59969424-59969425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187394138	chr12:59969472-59969473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536561914	chr12:59969473-59969474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10783988	chr12:59969474-59969475	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs386763465	chr12:59969482-59969483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10783989	chr12:59969483-59969484	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs148199921	chr12:59969502-59969503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576855285	chr12:59969522-59969523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541068325	chr12:59969533-59969534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552702744	chr12:59969595-59969596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368677903	chr12:59969596-59969597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542933999	chr12:59969677-59969678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	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	chr12:59961800-59970600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:59967600-59968800	Enhancers	Primary T cells from cord blood	blood
3	chr12:59967600-59969000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr12:59968200-59969200	Enhancers	Hela-S3	cervix
5	chr12:59968400-59968600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:59968400-59969000	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr12:59968600-59970600	Weak transcription	Dnd41	blood
8	chr12:59968800-59969200	Weak transcription	Primary T cells from cord blood	blood
9	chr12:59969000-59970600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr12:59969000-59970800	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr12:59969200-59971800	Enhancers	Primary T cells from cord blood	blood
12	chr12:59969400-59969600	Enhancers	Fetal Thymus	thymus
13	chr12:59969600-59969800	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr12:59969600-59970200	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr12:59969800-59972200	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr12:59970000-59971200	Weak transcription	Fetal Thymus	thymus
17	chr12:59970200-59973400	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr12:59970600-59972000	Enhancers	Dnd41	blood
19	chr12:59970600-59972800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr12:59970600-59973600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr12:59970800-59971800	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr12:59970800-59973000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr12:59970800-59973000	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr12:59970800-59974000	Enhancers	Primary T helper cells fromperipheralblood	blood

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