Variant report

Variant	esv3439863
Chromosome Location	chr12:40176294-40180179
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 173 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:173 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563939844	chr12:40176302-40176303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11173551	chr12:40176306-40176307	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs546914947	chr12:40176326-40176327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186988277	chr12:40176384-40176385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12581310	chr12:40176406-40176407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144972086	chr12:40176419-40176420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4768180	chr12:40176439-40176440	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs189523963	chr12:40176456-40176457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536995042	chr12:40176482-40176483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs180766261	chr12:40176543-40176544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186689950	chr12:40176593-40176594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534563611	chr12:40176600-40176601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550767335	chr12:40176646-40176647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35989443	chr12:40176660-40176661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34308721	chr12:40176665-40176666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149059912	chr12:40176668-40176669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11173553	chr12:40176692-40176693	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs372253899	chr12:40176693-40176694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190045236	chr12:40176735-40176736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544773920	chr12:40176780-40176781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149753555	chr12:40176820-40176821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183038082	chr12:40176821-40176822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542911926	chr12:40176825-40176826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142680671	chr12:40176829-40176830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528482390	chr12:40176836-40176837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373656587	chr12:40176867-40176868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540265904	chr12:40176879-40176880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564918046	chr12:40176888-40176889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536155481	chr12:40176903-40176904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7957157	chr12:40176971-40176972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139334959	chr12:40176989-40176990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185865499	chr12:40176994-40176995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530204104	chr12:40176996-40176997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548877255	chr12:40177023-40177024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143257442	chr12:40177049-40177050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573184691	chr12:40177054-40177055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190323626	chr12:40177070-40177071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs60505813	chr12:40177073-40177074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs56741912	chr12:40177076-40177077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs61202680	chr12:40177082-40177083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs59145967	chr12:40177083-40177084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150877829	chr12:40177094-40177095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571253833	chr12:40177115-40177116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77295596	chr12:40177121-40177122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556733136	chr12:40177167-40177168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575418375	chr12:40177189-40177190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574792718	chr12:40177190-40177191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376855649	chr12:40177193-40177194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542425406	chr12:40177196-40177197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554327336	chr12:40177241-40177242	Weak transcription	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
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
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
Colorectal cancer	16272173	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40158200-40179000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:40158200-40199000	Weak transcription	Left Ventricle	heart
3	chr12:40161600-40198800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr12:40174400-40186200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr12:40175400-40179800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr12:40176200-40189400	Weak transcription	Colon Smooth Muscle	Colon
7	chr12:40179000-40179200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:40179800-40180600	Enhancers	Rectal Mucosa Donor 31	rectum

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