Variant report

Variant	esv3372041
Chromosome Location	chr12:73099685-73104283
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 275 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:275 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80061565	chr12:73099688-73099689	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs548929189	chr12:73099689-73099690	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs9652039	chr12:73099702-73099703	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs527852934	chr12:73099726-73099727	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs184984560	chr12:73099750-73099751	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs112520373	chr12:73099772-73099773	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs539128734	chr12:73099784-73099785	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs552685737	chr12:73099786-73099787	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs538376745	chr12:73099792-73099793	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs549890916	chr12:73099844-73099845	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs568468283	chr12:73099866-73099867	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs535475998	chr12:73099870-73099871	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs375337013	chr12:73099893-73099894	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs35454213	chr12:73099896-73099897	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs539197929	chr12:73099897-73099898	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs35469622	chr12:73099898-73099899	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs576049473	chr12:73099920-73099921	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs543540767	chr12:73099921-73099922	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs561508513	chr12:73099932-73099933	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs35701677	chr12:73099950-73099951	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs148435417	chr12:73099958-73099959	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs560727423	chr12:73099962-73099963	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs528038567	chr12:73099993-73099994	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs181710522	chr12:73100004-73100005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544499315	chr12:73100048-73100049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531689776	chr12:73100056-73100057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550217765	chr12:73100060-73100061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568473860	chr12:73100061-73100062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535416519	chr12:73100084-73100085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547389055	chr12:73100085-73100086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565637056	chr12:73100087-73100088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539391010	chr12:73100138-73100139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557655735	chr12:73100139-73100140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs202136260	chr12:73100159-73100160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569863519	chr12:73100167-73100168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536872476	chr12:73100170-73100171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4760834	chr12:73100201-73100202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533165985	chr12:73100234-73100235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545963873	chr12:73100249-73100250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555406057	chr12:73100255-73100256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139131262	chr12:73100259-73100260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528491397	chr12:73100274-73100275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553044314	chr12:73100275-73100276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572760309	chr12:73100289-73100290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546504244	chr12:73100292-73100293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564646399	chr12:73100309-73100310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531897589	chr12:73100321-73100322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12600025	chr12:73100375-73100376	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs12597636	chr12:73100379-73100380	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs543661480	chr12:73100398-73100399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	21364760	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
Acute myeloid leukemia	20729466	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:73097400-73100000	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr12:73099400-73099800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:73100000-73100800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr12:73100800-73102000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
5	chr12:73102000-73104600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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