Variant report

Variant	esv3280
Chromosome Location	chr12:72397767-72398375
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	chr12:72394007..72396109-chr12:72397408..72399339,2	K562	blood:
2	chr12:72392745..72395338-chr12:72397148..72399546,3	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1352250	chr12:72397784-72397785	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs138297413	chr12:72397788-72397789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116211122	chr12:72397789-72397790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566289875	chr12:72397856-72397857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539617920	chr12:72397882-72397883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183970290	chr12:72397888-72397889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1352251	chr12:72397894-72397895	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs116542017	chr12:72397902-72397903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs116884207	chr12:72397999-72398000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188209709	chr12:72398032-72398033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569869419	chr12:72398033-72398034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs990234	chr12:72398117-72398118	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs1386498	chr12:72398143-72398144	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs990235	chr12:72398153-72398154	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs545185785	chr12:72398164-72398165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542702744	chr12:72398176-72398177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563579204	chr12:72398209-72398210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114214840	chr12:72398225-72398226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549289267	chr12:72398306-72398307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534448538	chr12:72398307-72398308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149628236	chr12:72398325-72398326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528053363	chr12:72398365-72398366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Breast cancer	21364760	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	17133270	CNVD
Autism	20685689	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:72397400-72397800	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr12:72397800-72398200	Enhancers	Fetal Lung	lung
3	chr12:72397800-72400800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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