Variant report

Variant	esv3505807
Chromosome Location	chr12:38921061-38923762
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	chr12:38917479..38920369-chr12:38920412..38922084,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577009067	chr12:38921063-38921064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs187053768	chr12:38921079-38921080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552056576	chr12:38921080-38921081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs144723359	chr12:38921112-38921113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544329822	chr12:38921135-38921136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548282144	chr12:38921183-38921184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568204763	chr12:38921206-38921207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192947095	chr12:38921221-38921222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183781002	chr12:38921254-38921255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536604978	chr12:38921258-38921259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144710376	chr12:38921289-38921290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576635572	chr12:38921377-38921378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373351487	chr12:38921388-38921389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs375549334	chr12:38921395-38921396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188318206	chr12:38921400-38921401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572284383	chr12:38921421-38921422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142822696	chr12:38921422-38921423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561036190	chr12:38921457-38921458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs193295117	chr12:38921471-38921472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs114990023	chr12:38921509-38921510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs151032536	chr12:38921512-38921513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs532269423	chr12:38921521-38921522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7980932	chr12:38921583-38921584	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs559710861	chr12:38921611-38921612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528290492	chr12:38921616-38921617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs548415997	chr12:38921643-38921644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141157283	chr12:38921683-38921684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530654982	chr12:38921696-38921697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs12820967	chr12:38921745-38921746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs13378021	chr12:38921787-38921788	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs566295129	chr12:38921794-38921795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539090126	chr12:38921799-38921800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558822859	chr12:38921814-38921815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs566073835	chr12:38921831-38921832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534848198	chr12:38921885-38921886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554744234	chr12:38921931-38921932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs201057236	chr12:38921961-38921962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs137876718	chr12:38921962-38921963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs57280982	chr12:38921995-38921996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs71068558	chr12:38922000-38922001	Enhancers	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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:38919800-38922000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:38921400-38921800	Enhancers	HUES48 Cell Line	embryonic stem cell

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