Variant report

Variant	esv1837220
Chromosome Location	chr12:84579418-84595585
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	E2F4	chr12:84583913-84583956	MCF10A-Er-Src	breast:	n/a	n/a
2	EP300	chr12:84584808-84585103	SK-N-SH_RA	brain:	n/a	n/a
3	EP300	chr12:84579907-84580671	SK-N-SH_RA	brain:	n/a	n/a
4	EP300	chr12:84579965-84580860	SK-N-SH	brain:	n/a	n/a
5	EP300	chr12:84579885-84580873	SK-N-SH	brain:	n/a	n/a
6	EP300	chr12:84579835-84580754	SK-N-SH	brain:	n/a	n/a
7	EP300	chr12:84579954-84580612	SK-N-SH_RA	brain:	n/a	n/a
8	FOSL2	chr12:84580016-84580730	SK-N-SH	brain:	n/a	n/a
9	FOXM1	chr12:84580127-84580698	SK-N-SH	brain:	n/a	n/a
10	FOXM1	chr12:84580208-84580679	SK-N-SH	brain:	n/a	n/a
11	GATA2	chr12:84580236-84580509	SH-SY5Y	brain:	n/a	n/a
12	GATA3	chr12:84579976-84580774	SK-N-SH	brain:	n/a	n/a
13	GATA3	chr12:84580387-84580493	SH-SY5Y	brain:	n/a	n/a
14	GATA3	chr12:84579876-84580843	SK-N-SH	brain:	n/a	n/a
15	JUND	chr12:84579967-84580721	SK-N-SH	brain:	n/a	n/a
16	JUND	chr12:84580040-84580748	SK-N-SH	brain:	n/a	n/a
17	MYC	chr12:84587913-84587921	MCF10A-Er-Src	breast:	n/a	n/a
18	NFIC	chr12:84579908-84580870	SK-N-SH	brain:	n/a	n/a
19	NFIC	chr12:84580107-84580598	SK-N-SH	brain:	n/a	n/a
20	PBX3	chr12:84580025-84580695	SK-N-SH	brain:	n/a	n/a
21	PBX3	chr12:84579842-84580765	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr12:84584778-84584877	ProgFib	skin:	n/a	n/a
23	POLR2A	chr12:84588901-84589141	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr12:84586439-84586444	Gliobla	brain:	n/a	n/a
25	POLR2A	chr12:84595036-84595132	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr12:84580087-84580551	SK-N-SH	brain:	n/a	n/a
27	POLR2A	chr12:84581064-84581264	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr12:84580218-84580532	SK-N-SH	brain:	n/a	n/a
29	RAD21	chr12:84580096-84580515	SK-N-SH_RA	brain:	n/a	chr12:84580451-84580470
30	RAD21	chr12:84580103-84580545	SK-N-SH_RA	brain:	n/a	chr12:84580451-84580470
31	RXRA	chr12:84580160-84580683	SK-N-SH	brain:	n/a	n/a
32	STAT3	chr12:84581712-84581799	MCF10A-Er-Src	breast:	n/a	n/a
33	STAT3	chr12:84579890-84580183	MCF10A-Er-Src	breast:	n/a	n/a
34	STAT3	chr12:84592508-84592682	MCF10A-Er-Src	breast:	n/a	chr12:84592568-84592579
35	TAF1	chr12:84580329-84580485	SK-N-SH	brain:	n/a	n/a
36	TCF12	chr12:84579974-84580792	SK-N-SH	brain:	n/a	n/a
37	TCF12	chr12:84579885-84580919	SK-N-SH	brain:	n/a	n/a
38	TEAD4	chr12:84580032-84580813	SK-N-SH	brain:	n/a	chr12:84580353-84580362
39	TEAD4	chr12:84580068-84580778	SK-N-SH	brain:	n/a	chr12:84580353-84580362
40	ZBTB33	chr12:84580160-84580668	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:84592646..84594505-chr12:84594640..84596287,2	MCF-7	breast:
2	chr12:84592646..84594505-chr12:84594640..84596287,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221148	TF binding region

Extended variants
information (count: 302 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:302 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1482436	chr12:84579418-84579419	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs556950923	chr12:84579419-84579420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140974368	chr12:84579435-84579436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545883006	chr12:84579447-84579448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557968895	chr12:84579530-84579531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189307863	chr12:84579535-84579536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540559280	chr12:84579580-84579581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114251195	chr12:84579602-84579603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201055342	chr12:84579614-84579615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371395980	chr12:84579641-84579642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182005647	chr12:84579672-84579673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374528301	chr12:84579698-84579699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs578070804	chr12:84579723-84579724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150245732	chr12:84579803-84579804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138864635	chr12:84579817-84579818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116390188	chr12:84579859-84579860	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs563787144	chr12:84579882-84579883	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs571071491	chr12:84579913-84579914	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs7137059	chr12:84579949-84579950	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs1482435	chr12:84580004-84580005	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs56982728	chr12:84580006-84580007	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs185705436	chr12:84580030-84580031	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs536129250	chr12:84580078-84580079	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs561307699	chr12:84580113-84580114	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs550613786	chr12:84580120-84580121	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs568857946	chr12:84580157-84580158	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs12305026	chr12:84580225-84580226	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs557567677	chr12:84580226-84580227	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs572853308	chr12:84580230-84580231	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs533748795	chr12:84580274-84580275	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs555112446	chr12:84580301-84580302	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs190510247	chr12:84580329-84580330	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs546974057	chr12:84580341-84580342	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs367869084	chr12:84580363-84580364	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs555886410	chr12:84580364-84580365	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs563370624	chr12:84580376-84580377	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs575229219	chr12:84580442-84580443	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs10400559	chr12:84580459-84580460	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs72615664	chr12:84580472-84580473	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs528539147	chr12:84580490-84580491	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs546900369	chr12:84580525-84580526	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs181165988	chr12:84580527-84580528	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs569442306	chr12:84580590-84580591	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs10746315	chr12:84580607-84580608	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs551275457	chr12:84580666-84580667	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs374029032	chr12:84580703-84580704	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs571788393	chr12:84580725-84580726	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs568921812	chr12:84580772-84580773	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs186393068	chr12:84580783-84580784	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs113488596	chr12:84580802-84580803	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
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
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:84578000-84585800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:84585200-84586400	Enhancers	HMEC	breast
3	chr12:84585600-84586400	Enhancers	NHEK	skin
4	chr12:84585800-84586600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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