Variant report

Variant	esv3496418
Chromosome Location	chr12:39186842-39187158
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563466478	chr12:39186848-39186849	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs140216747	chr12:39186874-39186875	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs150238746	chr12:39186883-39186884	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs199828030	chr12:39186888-39186889	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs77951269	chr12:39186891-39186892	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs145169074	chr12:39186909-39186910	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs73089548	chr12:39186940-39186941	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs186018654	chr12:39186960-39186961	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs374680620	chr12:39186969-39186970	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs568026210	chr12:39186975-39186976	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs79880846	chr12:39186995-39186996	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs376832074	chr12:39187026-39187027	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs550441368	chr12:39187070-39187071	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs539128913	chr12:39187083-39187084	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs114295241	chr12:39187098-39187099	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs539324438	chr12:39187108-39187109	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs369049312	chr12:39187131-39187132	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs55794135	chr12:39187132-39187133	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs202134147	chr12:39187155-39187156	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs550774267	chr12:39187157-39187158	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs559156293	chr12:39187158-39187159	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	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
Breast cancer	21364760	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
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39153800-39188600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:39177400-39188600	Weak transcription	Lung	lung
3	chr12:39180200-39188600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr12:39182600-39202800	Weak transcription	Liver	Liver
5	chr12:39184200-39205800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:39185600-39190600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:39187000-39187400	Weak transcription	Monocytes-CD14+_RO01746	blood

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