Variant report

Variant	esv3336599
Chromosome Location	chr12:42255175-42255641
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145221701	chr12:42255189-42255190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73274236	chr12:42255208-42255209	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs117777326	chr12:42255218-42255219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11181200	chr12:42255234-42255235	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs10880175	chr12:42255244-42255245	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs538210874	chr12:42255260-42255261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371642731	chr12:42255264-42255265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556262534	chr12:42255265-42255266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574811640	chr12:42255293-42255294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536149112	chr12:42255308-42255309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73128159	chr12:42255359-42255360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11181201	chr12:42255366-42255367	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs143784726	chr12:42255375-42255376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11181202	chr12:42255396-42255397	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs376673564	chr12:42255412-42255413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565304415	chr12:42255433-42255434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11181203	chr12:42255435-42255436	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs113835326	chr12:42255440-42255441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562328227	chr12:42255573-42255574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529734203	chr12:42255601-42255602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548597723	chr12:42255607-42255608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146857189	chr12:42255613-42255614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527852928	chr12:42255621-42255622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs71453322	chr12:42255623-42255624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Neurodevelopmental disorder	22521361	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
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
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42218600-42257000	Weak transcription	Aorta	Aorta
2	chr12:42250600-42257400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:42250800-42255400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:42254800-42255400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:42254800-42255600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:42255400-42256000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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