Variant report

Variant	esv275538
Chromosome Location	chr12:74142544-74151889
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	CEBPB	chr12:74146197-74146414	A549	lung:	n/a	n/a
2	JUND	chr12:74143860-74144127	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAFF	chr12:74151615-74151886	HepG2	liver:	n/a	n/a
4	MAFK	chr12:74143190-74143346	HepG2	liver:	n/a	chr12:74143284-74143295
5	MAFK	chr12:74151657-74151918	HepG2	liver:	n/a	n/a
6	MAFK	chr12:74151666-74151918	HepG2	liver:	n/a	n/a
7	MAZ	chr12:74147116-74147120	HepG2	liver:	n/a	n/a
8	MYC	chr12:74148810-74148897	GM12878	blood:	n/a	n/a
9	POLR2A	chr12:74147301-74147501	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr12:74145962-74146148	MCF10A-Er-Src	breast:	n/a	n/a
11	TCF7L2	chr12:74146703-74147025	HEK293	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:74132246..74134294-chr12:74150416..74152196,2	K562	blood:

Variant related genes	Relation type
ENSG00000257750	TF binding region

Extended variants
information (count: 74 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12320915	chr12:74142544-74142545	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs564672831	chr12:74142551-74142552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369348089	chr12:74142609-74142610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533524319	chr12:74142623-74142624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12825855	chr12:74142644-74142645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563871323	chr12:74142673-74142674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562224345	chr12:74142676-74142677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529576444	chr12:74142721-74142722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547893935	chr12:74142733-74142734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568020074	chr12:74142812-74142813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527400233	chr12:74142846-74142847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530643177	chr12:74142883-74142884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4883493	chr12:74142917-74142918	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs192160503	chr12:74142964-74142965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs117034847	chr12:74142975-74142976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564152112	chr12:74143014-74143015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs202173954	chr12:74143049-74143050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555915972	chr12:74143050-74143051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532826024	chr12:74143051-74143052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546571822	chr12:74143052-74143053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs202182948	chr12:74143072-74143073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535703442	chr12:74143143-74143144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555496743	chr12:74143166-74143167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368998933	chr12:74143178-74143179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs17112684	chr12:74143186-74143187	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs374459679	chr12:74143196-74143197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372709873	chr12:74143210-74143211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535131518	chr12:74143221-74143222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558323603	chr12:74143233-74143234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs578141477	chr12:74143236-74143237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10879673	chr12:74143268-74143269	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs563873389	chr12:74143269-74143270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12302076	chr12:74143368-74143369	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs543258581	chr12:74143382-74143383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561541623	chr12:74143387-74143388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs116437803	chr12:74143425-74143426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546988479	chr12:74143431-74143432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563868607	chr12:74143436-74143437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551999366	chr12:74143503-74143504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150719519	chr12:74143532-74143533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549579343	chr12:74143588-74143589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183011977	chr12:74143723-74143724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569042844	chr12:74143736-74143737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373494338	chr12:74143770-74143771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs137862148	chr12:74143782-74143783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535386342	chr12:74143792-74143793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549219077	chr12:74143865-74143866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565826668	chr12:74143887-74143888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535064017	chr12:74143905-74143906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558160346	chr12:74143906-74143907	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	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
Breast cancer	21509527	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74140600-74144000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:74144000-74144200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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