Variant report

Variant	esv1794057
Chromosome Location	chr12:59942862-59956876
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:
2	chr12:59952670..59955367-chr12:59988706..59991381,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000118596	chromatin interactions

Extended variants
information (count: 150 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:150 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562418005	chr12:59942883-59942884	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs574358168	chr12:59942932-59942933	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs563634262	chr12:59942987-59942988	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs572555621	chr12:59943031-59943032	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs544844648	chr12:59943068-59943069	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs563067539	chr12:59943080-59943081	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs370904335	chr12:59943113-59943114	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs189337997	chr12:59943129-59943130	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs60708251	chr12:59943140-59943141	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs180705201	chr12:59943141-59943142	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs60860880	chr12:59943173-59943174	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs276041	chr12:59943195-59943196	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs79430647	chr12:59943198-59943199	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs567251060	chr12:59943202-59943203	Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs559547699	chr12:59943218-59943219	Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs528705420	chr12:59943285-59943286	Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs537732988	chr12:59943291-59943292	Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs549605858	chr12:59943292-59943293	Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs185145726	chr12:59943305-59943306	Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs538407543	chr12:59943308-59943309	Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs553839636	chr12:59943319-59943320	Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs547143625	chr12:59943329-59943330	Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs572009399	chr12:59943342-59943343	Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs371572215	chr12:59943426-59943427	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs189467298	chr12:59943433-59943434	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs181522585	chr12:59943454-59943455	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs544921014	chr12:59943477-59943478	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs563130371	chr12:59943535-59943536	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs567364945	chr12:59943537-59943538	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs138305200	chr12:59943578-59943579	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs535826318	chr12:59943630-59943631	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs149625572	chr12:59943631-59943632	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs560657629	chr12:59943659-59943660	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs7136510	chr12:59943756-59943757	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs374519993	chr12:59943767-59943768	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs543042689	chr12:59943782-59943783	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs186697800	chr12:59943792-59943793	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs112985600	chr12:59943803-59943804	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs75563532	chr12:59943828-59943829	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs116192235	chr12:59943833-59943834	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs539116249	chr12:59943845-59943846	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs532350460	chr12:59943956-59943957	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs538972077	chr12:59943963-59943964	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs547244410	chr12:59943980-59943981	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs569229337	chr12:59947418-59947419	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs117031910	chr12:59947422-59947423	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs140975754	chr12:59947428-59947429	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs112606215	chr12:59947433-59947434	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs529795126	chr12:59947436-59947437	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs34729101	chr12:59947483-59947484	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	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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