Variant report

Variant	esv3493107
Chromosome Location	chr12:120355502-120357899
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 71 )

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	rs7977647	chr12:120355518-120355519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs7964822	chr12:120355563-120355564	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs117964214	chr12:120355575-120355576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78916483	chr12:120355582-120355583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577914104	chr12:120355590-120355591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373532466	chr12:120355593-120355594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540145606	chr12:120355600-120355601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7299389	chr12:120355615-120355616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111815527	chr12:120355709-120355710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573508137	chr12:120355746-120355747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533200430	chr12:120355748-120355749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543698021	chr12:120355749-120355750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs367974511	chr12:120355758-120355759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs59248527	chr12:120355816-120355817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372530874	chr12:120355864-120355865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547540575	chr12:120355881-120355882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs58895334	chr12:120355926-120355927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs193276093	chr12:120355958-120355959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375503742	chr12:120356007-120356008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368916153	chr12:120356065-120356066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563575256	chr12:120356083-120356084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372215414	chr12:120356098-120356099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs60800586	chr12:120356162-120356163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs61380801	chr12:120356187-120356188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs28424227	chr12:120356251-120356252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs28517810	chr12:120356269-120356270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533690770	chr12:120356338-120356339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs61945780	chr12:120356488-120356489	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546933192	chr12:120356571-120356572	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	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
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120351600-120356600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:120355400-120355600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:120355600-120356400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:120356400-120356600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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