Variant report

Variant	esv2750640
Chromosome Location	chr12:20968618-20968823
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFF	chr12:20968530-20968876	HepG2	liver:	n/a	chr12:20968702-20968720
2	MAFF	chr12:20968539-20968861	K562	blood:	n/a	chr12:20968702-20968720
3	MAFK	chr12:20968164-20968900	H1-hESC	embryonic stem cell:	n/a	chr12:20968703-20968718
4	MAFK	chr12:20968540-20968876	K562	blood:	n/a	chr12:20968703-20968718
5	MAFK	chr12:20968522-20968893	HepG2	liver:	n/a	chr12:20968703-20968718
6	MAFK	chr12:20968522-20968886	HepG2	liver:	n/a	chr12:20968703-20968718
7	MAFK	chr12:20968533-20968868	Hela-S3	cervix:	n/a	chr12:20968703-20968718
8	MAFK	chr12:20968524-20968887	IMR90	lung:	n/a	chr12:20968703-20968718

Variant related genes	Relation type
SLCO1B7	TF binding region
SLCO1B3	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200104106	chr12:20968641-20968642	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs376671816	chr12:20968644-20968645	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs527574443	chr12:20968645-20968646	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs4149158	chr12:20968666-20968667	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs201503539	chr12:20968668-20968669	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs201943559	chr12:20968669-20968670	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs61612406	chr12:20968683-20968684	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs200793002	chr12:20968698-20968699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376673811	chr12:20968723-20968724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369736559	chr12:20968739-20968740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149944473	chr12:20968741-20968742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377570761	chr12:20968752-20968753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563634489	chr12:20968755-20968756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529471627	chr12:20968759-20968760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549294341	chr12:20968766-20968767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566179004	chr12:20968772-20968773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370551723	chr12:20968778-20968779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528530013	chr12:20968782-20968783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370172063	chr12:20968794-20968795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374604069	chr12:20968800-20968801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571633334	chr12:20968804-20968805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533097921	chr12:20968807-20968808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537425469	chr12:20968808-20968809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556524453	chr12:20968809-20968810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21364760	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
Schizophrenia	21346763	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20964600-20969600	Weak transcription	A549	lung
2	chr12:20967400-20975400	Weak transcription	Liver	Liver

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