Variant report

Variant	esv12425
Chromosome Location	chr12:118936859-118937762
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187862813	chr12:118936894-118936895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs150302362	chr12:118936943-118936944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs75017880	chr12:118936960-118936961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7965271	chr12:118937014-118937015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576384897	chr12:118937020-118937021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs137933941	chr12:118937065-118937066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373675184	chr12:118937107-118937108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192392478	chr12:118937164-118937165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545502909	chr12:118937177-118937178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377376098	chr12:118937181-118937182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374567072	chr12:118937201-118937202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369430887	chr12:118937228-118937229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185708492	chr12:118937267-118937268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368894711	chr12:118937309-118937310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145915816	chr12:118937346-118937347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541984650	chr12:118937399-118937400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561868229	chr12:118937414-118937415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12303384	chr12:118937432-118937433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189890122	chr12:118937434-118937435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201070627	chr12:118937461-118937462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113219566	chr12:118937470-118937471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376908197	chr12:118937471-118937472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs193167375	chr12:118937498-118937499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532504992	chr12:118937502-118937503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs71450282	chr12:118937506-118937507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs71450283	chr12:118937509-118937510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34773175	chr12:118937563-118937564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539248970	chr12:118937705-118937706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs73409634	chr12:118937749-118937750	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:70)

Disease	PMID	Source
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
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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	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
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Neuroblastoma	20406844	CNVD
Medulloblastoma	16783165	CNVD
mental retardation	16760730	CNVD
Breast cancer	21509527	CNVD
Lung adenocarcinoma	21045234	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118936400-118937600	Weak transcription	Right Ventricle	heart
2	chr12:118936400-118938000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr12:118936600-118937800	Weak transcription	Fetal Heart	heart
4	chr12:118936600-118937800	Weak transcription	Gastric	stomach
5	chr12:118936800-118937600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr12:118937600-118938200	Enhancers	Right Ventricle	heart
7	chr12:118937600-118938400	Enhancers	Stomach Smooth Muscle	stomach

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