Variant report

Variant	esv1815197
Chromosome Location	chr12:74644734-74651797
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:74644729..74646901-chr12:74673133..74675574,2	K562	blood:
2	chr12:74642568..74645294-chr12:74647466..74649300,2	K562	blood:
3	chr12:74642568..74645294-chr12:74647466..74649300,2	K562	blood:

Extended variants
information (count: 216 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:216 , 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	rs113828174	chr12:74644740-74644741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138111468	chr12:74644747-74644748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536210057	chr12:74644753-74644754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563512001	chr12:74644754-74644755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149101855	chr12:74644764-74644765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200541442	chr12:74644789-74644790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573215662	chr12:74644845-74644846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538959239	chr12:74644886-74644887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559239956	chr12:74645056-74645057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539037240	chr12:74645104-74645105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs17769361	chr12:74645130-74645131	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs563347685	chr12:74645142-74645143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144607210	chr12:74645207-74645208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551631416	chr12:74645261-74645262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542780192	chr12:74645328-74645329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559064767	chr12:74645332-74645333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112753003	chr12:74645364-74645365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs80188284	chr12:74645383-74645384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551377946	chr12:74645416-74645417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34307873	chr12:74645548-74645549	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs530590654	chr12:74645562-74645563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550376547	chr12:74645566-74645567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549483251	chr12:74645575-74645576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs66661116	chr12:74645590-74645591	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs141655716	chr12:74645591-74645592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146224347	chr12:74645594-74645595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536324085	chr12:74645606-74645607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547115580	chr12:74645642-74645643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566740979	chr12:74645658-74645659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539030206	chr12:74645714-74645715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184527689	chr12:74645719-74645720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375608848	chr12:74645766-74645767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538409820	chr12:74645828-74645829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs199539679	chr12:74645855-74645856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs512105	chr12:74645856-74645857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575114632	chr12:74645873-74645874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368075641	chr12:74645890-74645891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559440546	chr12:74645916-74645917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567293657	chr12:74645931-74645932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs511238	chr12:74645949-74645950	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs626946	chr12:74646020-74646021	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs530698129	chr12:74646056-74646057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs60643998	chr12:74646091-74646092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544127507	chr12:74646137-74646138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560744606	chr12:74646142-74646143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75894253	chr12:74646226-74646227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs638404	chr12:74646304-74646305	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs566957052	chr12:74646321-74646322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141547280	chr12:74646400-74646401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111723752	chr12:74646417-74646418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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	21364760	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	20409316	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74636600-74678000	Weak transcription	K562	blood
2	chr12:74649800-74650200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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