Variant report

Variant	esv3423650
Chromosome Location	chr12:44544935-44547633
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 111 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531592611	chr12:44544964-44544965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183445295	chr12:44545002-44545003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568217647	chr12:44545007-44545008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35616707	chr12:44545015-44545016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139872538	chr12:44545028-44545029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555085477	chr12:44545073-44545074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138750761	chr12:44545103-44545104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566901619	chr12:44545118-44545119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530283255	chr12:44545133-44545134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534182504	chr12:44545136-44545137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564423904	chr12:44545154-44545155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370773924	chr12:44545155-44545156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs57930762	chr12:44545164-44545165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559244082	chr12:44545209-44545210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10467197	chr12:44545210-44545211	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs544845929	chr12:44545212-44545213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556504516	chr12:44545233-44545234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35367840	chr12:44545259-44545260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35628266	chr12:44545289-44545290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146726031	chr12:44545305-44545306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188591815	chr12:44545309-44545310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559810538	chr12:44545319-44545320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139298200	chr12:44545322-44545323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545403429	chr12:44545349-44545350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368584750	chr12:44545356-44545357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs116647832	chr12:44545423-44545424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561329490	chr12:44545523-44545524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12820218	chr12:44545578-44545579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531528570	chr12:44545582-44545583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550015185	chr12:44545606-44545607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540608518	chr12:44545655-44545656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568197555	chr12:44545668-44545669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529078929	chr12:44545674-44545675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548747590	chr12:44545679-44545680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs193201888	chr12:44545702-44545703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550732780	chr12:44545734-44545735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551759754	chr12:44545756-44545757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534247299	chr12:44545757-44545758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs58667600	chr12:44545761-44545762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546613953	chr12:44545779-44545780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs28563827	chr12:44545782-44545783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs28609721	chr12:44545784-44545785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201405059	chr12:44545794-44545795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs28523421	chr12:44545817-44545818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs28398183	chr12:44545818-44545819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539983301	chr12:44545896-44545897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570799709	chr12:44545956-44545957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538174913	chr12:44546000-44546001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188406917	chr12:44546014-44546015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs56371835	chr12:44546086-44546087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	19039135	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Prostate cancer	18632612	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44511400-44605800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:44522400-44545200	Weak transcription	HSMMtube	muscle
3	chr12:44530800-44573200	Weak transcription	Pancreas	Pancrea
4	chr12:44531600-44547800	Weak transcription	Psoas Muscle	Psoas
5	chr12:44534800-44573000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:44536200-44547800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr12:44539600-44553800	Weak transcription	Aorta	Aorta
8	chr12:44546200-44547000	Weak transcription	Left Ventricle	heart
9	chr12:44547000-44547200	Enhancers	Left Ventricle	heart
10	chr12:44547000-44554200	Enhancers	Fetal Heart	heart
11	chr12:44547200-44554400	Weak transcription	Left Ventricle	heart

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