Variant report

Variant	esv3385769
Chromosome Location	chr12:119261669-119263667
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181567109	chr12:119261689-119261690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144485806	chr12:119261713-119261714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528710703	chr12:119261722-119261723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548778980	chr12:119261730-119261731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371765646	chr12:119261736-119261737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567786641	chr12:119261737-119261738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79907787	chr12:119261740-119261741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550119030	chr12:119261797-119261798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2730471	chr12:119261822-119261823	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs539716594	chr12:119261868-119261869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553027562	chr12:119261885-119261886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147854109	chr12:119261940-119261941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377328090	chr12:119261970-119261971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535267546	chr12:119261987-119261988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74932495	chr12:119262046-119262047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557562981	chr12:119262054-119262055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543977355	chr12:119262062-119262063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557392023	chr12:119262075-119262076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577194285	chr12:119262102-119262103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574195155	chr12:119262116-119262117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs55816879	chr12:119262126-119262127	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs75189879	chr12:119262210-119262211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528801562	chr12:119262243-119262244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs75767741	chr12:119262255-119262256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185316962	chr12:119262261-119262262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530512753	chr12:119262265-119262266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564414517	chr12:119262275-119262276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111530357	chr12:119262276-119262277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190177504	chr12:119262364-119262365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532757854	chr12:119262366-119262367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10047558	chr12:119262413-119262414	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs557750363	chr12:119262435-119262436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2730728	chr12:119262473-119262474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574575885	chr12:119262483-119262484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs55881625	chr12:119262494-119262495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566604264	chr12:119262504-119262505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376255205	chr12:119262513-119262514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535752864	chr12:119262552-119262553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533011340	chr12:119262566-119262567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555593840	chr12:119262568-119262569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370575112	chr12:119262583-119262584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372888005	chr12:119262593-119262594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569123149	chr12:119262601-119262602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537523812	chr12:119262620-119262621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557522302	chr12:119262622-119262623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577280696	chr12:119262637-119262638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531332759	chr12:119262651-119262652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560679667	chr12:119262660-119262661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs55804637	chr12:119262662-119262663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142546696	chr12:119262729-119262730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
low-grade B-cell lymphoma tumor	18367492	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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119259800-119265000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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