Variant report

Variant	esv2442822
Chromosome Location	chr12:75008212-75010939
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:75000346..75002635-chr12:75006525..75008307,2	K562	blood:

Extended variants
information (count: 211 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:211 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575522277	chr12:75008421-75008422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs139820239	chr12:75008453-75008454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553606285	chr12:75008465-75008466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531241774	chr12:75008491-75008492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573432045	chr12:75008545-75008546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs17113975	chr12:75008547-75008548	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs148349505	chr12:75008582-75008583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577643373	chr12:75008624-75008625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12227606	chr12:75008634-75008635	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs562913008	chr12:75008656-75008657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369534958	chr12:75008685-75008686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529173331	chr12:75008703-75008704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs141575966	chr12:75008732-75008733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542469305	chr12:75008754-75008755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs4475988	chr12:75008780-75008781	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs189071679	chr12:75008784-75008785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181851916	chr12:75008833-75008834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565263736	chr12:75008839-75008840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531000782	chr12:75008841-75008842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186416771	chr12:75008848-75008849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs17183486	chr12:75008850-75008851	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs189448942	chr12:75008904-75008905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181426545	chr12:75008905-75008906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567149484	chr12:75008919-75008920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538887551	chr12:75008936-75008937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370532036	chr12:75008954-75008955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372665614	chr12:75008959-75008960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377462491	chr12:75008962-75008963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4307779	chr12:75008968-75008969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559089958	chr12:75008977-75008978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371196205	chr12:75008981-75008982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373629896	chr12:75008982-75008983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372852660	chr12:75008985-75008986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377217811	chr12:75008986-75008987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370695413	chr12:75008990-75008991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376640365	chr12:75008993-75008994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374180626	chr12:75008998-75008999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536151734	chr12:75008999-75009000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs58533349	chr12:75009011-75009012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370781070	chr12:75009012-75009013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373922658	chr12:75009015-75009016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368398030	chr12:75009017-75009018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs72273898	chr12:75009021-75009022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs71075983	chr12:75009028-75009029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368104658	chr12:75009043-75009044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375661956	chr12:75009047-75009048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113107271	chr12:75009048-75009049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113133655	chr12:75009052-75009053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201901655	chr12:75009057-75009058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71075984	chr12:75009059-75009060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
craniofacial dysmorphism	21918468	CNVD
Breast cancer	17133270	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
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75008400-75008800	Enhancers	Hela-S3	cervix
2	chr12:75008800-75012600	Weak transcription	Hela-S3	cervix

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