Variant report

Variant	esv3404815
Chromosome Location	chr12:59941785-59948183
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	chr12:59941726..59943985-chr12:59989663..59991635,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000118596	chromatin interactions

Extended variants
information (count: 95 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77149083	chr12:59941811-59941812	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs148876756	chr12:59941814-59941815	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs534087349	chr12:59941815-59941816	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs536261205	chr12:59941849-59941850	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs555321283	chr12:59941851-59941852	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs145407202	chr12:59941889-59941890	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs146465513	chr12:59941994-59941995	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs276040	chr12:59941995-59941996	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs79065426	chr12:59942069-59942070	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs11533655	chr12:59942122-59942123	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs538835785	chr12:59942125-59942126	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs544632961	chr12:59942161-59942162	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs116119946	chr12:59942171-59942172	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs528823159	chr12:59942198-59942199	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs540917082	chr12:59942207-59942208	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs562196058	chr12:59942214-59942215	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs140882980	chr12:59942236-59942237	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs530569838	chr12:59942270-59942271	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs367853116	chr12:59942271-59942272	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs572558373	chr12:59942322-59942323	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs541196161	chr12:59942362-59942363	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs190372560	chr12:59942384-59942385	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs562990035	chr12:59942478-59942479	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs533452376	chr12:59942487-59942488	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs551527490	chr12:59942495-59942496	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs566857919	chr12:59942544-59942545	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs533896302	chr12:59942564-59942565	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs549270319	chr12:59942587-59942588	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs567415276	chr12:59942590-59942591	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs68169830	chr12:59942626-59942627	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs555917994	chr12:59942633-59942634	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs142058441	chr12:59942638-59942639	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs113563957	chr12:59942651-59942652	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs577352778	chr12:59942708-59942709	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs538336858	chr12:59942732-59942733	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs193082336	chr12:59942790-59942791	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs114645576	chr12:59942794-59942795	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs184868663	chr12:59942806-59942807	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs201412548	chr12:59942809-59942810	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs543800477	chr12:59942821-59942822	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs555590862	chr12:59942822-59942823	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs562418005	chr12:59942883-59942884	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs574358168	chr12:59942932-59942933	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs563634262	chr12:59942987-59942988	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs572555621	chr12:59943031-59943032	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs544844648	chr12:59943068-59943069	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs563067539	chr12:59943080-59943081	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs370904335	chr12:59943113-59943114	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs189337997	chr12:59943129-59943130	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs60708251	chr12:59943140-59943141	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:82)

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

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59942000-59943600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:59942200-59943800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr12:59942400-59943200	Enhancers	Primary T cells fromperipheralblood	blood
4	chr12:59942400-59943200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr12:59942600-59943000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr12:59942600-59943200	Enhancers	Stomach Mucosa	stomach
7	chr12:59942600-59943400	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr12:59942600-59943600	Enhancers	Esophagus	oesophagus
9	chr12:59942600-59944000	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr12:59943000-59943200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
11	chr12:59943200-59943400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
12	chr12:59943200-59943600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr12:59947400-59947600	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell

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