Variant report

Variant	esv18102
Chromosome Location	chr12:57374477-57376512
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	chr12:57374244..57376394-chr12:57378626..57381125,2	MCF-7	breast:
2	chr12:57349241..57352181-chr12:57373731..57375876,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139547	chromatin interactions

Extended variants
information (count: 52 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541675420	chr12:57374516-57374517	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs575967416	chr12:57374569-57374570	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs75402217	chr12:57374582-57374583	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs34969650	chr12:57374637-57374638	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs575614220	chr12:57374690-57374691	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs148444037	chr12:57374703-57374704	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs528673102	chr12:57374704-57374705	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs377025859	chr12:57374716-57374717	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs540502456	chr12:57374922-57374923	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs145266095	chr12:57374926-57374927	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs528998975	chr12:57374951-57374952	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs67844278	chr12:57374999-57375000	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs568524562	chr12:57375011-57375012	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs11831512	chr12:57375040-57375041	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs142096605	chr12:57375056-57375057	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs566470274	chr12:57375065-57375066	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs144188296	chr12:57375081-57375082	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs555302571	chr12:57375090-57375091	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs368681723	chr12:57375102-57375103	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs564363957	chr12:57375125-57375126	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs532855001	chr12:57375143-57375144	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs568514947	chr12:57375209-57375210	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs535586511	chr12:57375451-57375452	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs557344967	chr12:57375504-57375505	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs185734928	chr12:57375518-57375519	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs575706140	chr12:57375522-57375523	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs75079544	chr12:57375537-57375538	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs17119301	chr12:57375554-57375555	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs376190415	chr12:57375555-57375556	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs565641284	chr12:57375599-57375600	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs2629442	chr12:57375605-57375606	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs2629441	chr12:57375615-57375616	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs540790425	chr12:57375616-57375617	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs189415259	chr12:57375657-57375658	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs528944494	chr12:57375712-57375713	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs543908747	chr12:57375723-57375724	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs11610861	chr12:57375768-57375769	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs532757031	chr12:57375770-57375771	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs550996481	chr12:57375813-57375814	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs376249998	chr12:57375864-57375865	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs527612301	chr12:57375927-57375928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529351809	chr12:57376080-57376081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2257435	chr12:57376167-57376168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567350194	chr12:57376172-57376173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549185377	chr12:57376196-57376197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538091412	chr12:57376372-57376373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140117478	chr12:57376430-57376431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150470545	chr12:57376449-57376450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2258155	chr12:57376454-57376455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2258152	chr12:57376478-57376479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	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
Bladder cancer	21909424	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	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
Autism	20531469	CNVD
Rhabdomyosarcoma	16790082	CNVD
Renal cell carcinoma	18765545	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21138945	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
Glycogen storage disease	18421352	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57361800-57389000	Weak transcription	Aorta	Aorta
2	chr12:57370800-57379800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr12:57370800-57381200	Weak transcription	Brain Anterior Caudate	brain
4	chr12:57371600-57381000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:57372000-57384800	Weak transcription	Gastric	stomach
6	chr12:57372200-57384800	Weak transcription	Primary T cells from cord blood	blood
7	chr12:57372400-57375000	Enhancers	Esophagus	oesophagus
8	chr12:57372600-57375000	Weak transcription	Fetal Muscle Leg	muscle
9	chr12:57372600-57381000	Weak transcription	Spleen	Spleen
10	chr12:57372800-57381000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr12:57373200-57374600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:57373200-57388600	Weak transcription	Fetal Brain Female	brain
13	chr12:57373200-57388800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:57373600-57374600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:57373600-57374600	Enhancers	NHEK	skin
16	chr12:57373800-57375200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr12:57374400-57379600	Weak transcription	HMEC	breast
18	chr12:57374400-57379800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:57374600-57379200	Weak transcription	NHEK	skin
20	chr12:57374600-57379800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:57374600-57379800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:57375000-57375200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:57375000-57375400	Enhancers	Fetal Muscle Leg	muscle
24	chr12:57375200-57375600	Enhancers	Placenta Amnion	Placenta Amnion
25	chr12:57375200-57381600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:57375400-57376800	Weak transcription	Fetal Muscle Leg	muscle
27	chr12:57375600-57379800	Weak transcription	Placenta Amnion	Placenta Amnion

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