Variant report

Variant	esv1800050
Chromosome Location	chr12:85954235-85968290
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	chr12:85957585-85957738	Hela-S3	cervix:	n/a	chr12:85957676-85957689 chr12:85957676-85957689 chr12:85957676-85957687 chr12:85957676-85957689 chr12:85957676-85957687
2	CEBPB	chr12:85966835-85967062	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr12:85960200-85960350	HFF	foreskin:	n/a	n/a
4	E2F4	chr12:85958778-85958857	MCF10A-Er-Src	breast:	n/a	n/a
5	E2F4	chr12:85964505-85964522	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr12:85956537-85956775	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr12:85956534-85956822	MCF10A-Er-Src	breast:	n/a	n/a
8	FOXA1	chr12:85962120-85962414	HepG2	liver:	n/a	n/a
9	IRF3	chr12:85956597-85956613	GM12878	blood:	n/a	n/a
10	JUND	chr12:85957205-85957275	HepG2	liver:	n/a	n/a
11	MAFF	chr12:85967449-85967786	HepG2	liver:	n/a	chr12:85967596-85967614
12	MAFF	chr12:85967426-85967730	K562	blood:	n/a	chr12:85967596-85967614
13	MAFK	chr12:85967435-85967791	HepG2	liver:	n/a	chr12:85967598-85967613
14	MAFK	chr12:85967465-85967776	HepG2	liver:	n/a	chr12:85967598-85967613
15	MAFK	chr12:85967501-85967755	K562	blood:	n/a	chr12:85967598-85967613
16	MAFK	chr12:85967428-85967788	IMR90	lung:	n/a	chr12:85967598-85967613
17	MEF2A	chr12:85966755-85967071	SK-N-SH	brain:	n/a	n/a
18	MEF2A	chr12:85966643-85967071	GM12878	blood:	n/a	n/a
19	MEF2C	chr12:85966731-85967052	GM12878	blood:	n/a	n/a
20	MYC	chr12:85963099-85963346	MCF10A-Er-Src	breast:	n/a	n/a
21	MYC	chr12:85961649-85961699	NB4	blood:	n/a	chr12:85961661-85961670
22	MYC	chr12:85960031-85960170	H1-hESC	embryonic stem cell:	n/a	n/a
23	NFIC	chr12:85966668-85967120	GM12878	blood:	n/a	n/a
24	NFYA	chr12:85958490-85958652	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr12:85965689-85965778	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr12:85959761-85959847	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr12:85962191-85962375	A549	lung:	n/a	n/a
28	POLR2A	chr12:85961654-85961687	A549	lung:	n/a	n/a
29	POLR2A	chr12:85955577-85955882	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr12:85956423-85957222	H1-neurons	neurons:	n/a	n/a
31	POLR2A	chr12:85956128-85956139	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr12:85962202-85962348	MCF-7	breast:	n/a	n/a
33	POLR2A	chr12:85963495-85963611	MCF10A-Er-Src	breast:	n/a	n/a
34	RCOR1	chr12:85962228-85962331	HepG2	liver:	n/a	n/a
35	SPI1	chr12:85960189-85960405	GM12891	blood:	n/a	n/a
36	SPI1	chr12:85960135-85960428	GM12878	blood:	n/a	n/a
37	STAT3	chr12:85966463-85966496	MCF10A-Er-Src	breast:	n/a	n/a
38	STAT3	chr12:85956503-85956773	MCF10A-Er-Src	breast:	n/a	n/a
39	STAT3	chr12:85957167-85957328	MCF10A-Er-Src	breast:	n/a	n/a
40	STAT3	chr12:85959743-85960099	MCF10A-Er-Src	breast:	n/a	n/a
41	STAT3	chr12:85963092-85963434	MCF10A-Er-Src	breast:	n/a	n/a
42	STAT3	chr12:85956537-85956814	MCF10A-Er-Src	breast:	n/a	n/a
43	STAT3	chr12:85956542-85956778	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:85949711..85951775-chr12:85954587..85956542,2	K562	blood:
2	chr12:85956037..85957820-chr12:85959579..85961160,2	K562	blood:
3	chr12:85956037..85957820-chr12:85959579..85961160,2	K562	blood:

Variant related genes	Relation type
ENSG00000257855	TF binding region

Extended variants
information (count: 417 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:417 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7134486	chr12:85954235-85954236	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs141327892	chr12:85954250-85954251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542985013	chr12:85954269-85954270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs117514483	chr12:85954309-85954310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116884935	chr12:85954380-85954381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543000525	chr12:85954415-85954416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561619214	chr12:85954422-85954423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs367804612	chr12:85954423-85954424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541007464	chr12:85954495-85954496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576394490	chr12:85954498-85954499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184799137	chr12:85954526-85954527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147016665	chr12:85954585-85954586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35930805	chr12:85954611-85954612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189772818	chr12:85954646-85954647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73367266	chr12:85954692-85954693	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs533008401	chr12:85954700-85954701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148055802	chr12:85954708-85954709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10862995	chr12:85954723-85954724	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs180844637	chr12:85954724-85954725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531050602	chr12:85954801-85954802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569915610	chr12:85954825-85954826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536672685	chr12:85954889-85954890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552172810	chr12:85954904-85954905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184133229	chr12:85954908-85954909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534661088	chr12:85954922-85954923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs71076127	chr12:85954999-85955000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200733133	chr12:85955025-85955026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377451697	chr12:85955029-85955030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11116886	chr12:85955080-85955081	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs549352777	chr12:85955081-85955082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142774243	chr12:85955082-85955083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368928577	chr12:85955170-85955171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs55830917	chr12:85955225-85955226	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs554992017	chr12:85955288-85955289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181790628	chr12:85955319-85955320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186318474	chr12:85955384-85955385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74738077	chr12:85955386-85955387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7973323	chr12:85955391-85955392	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs541173413	chr12:85955403-85955404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs190441323	chr12:85955410-85955411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535320933	chr12:85955438-85955439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181846597	chr12:85955461-85955462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541984211	chr12:85955494-85955495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs76375898	chr12:85955539-85955540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530797585	chr12:85955544-85955545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs115183354	chr12:85955568-85955569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs76801019	chr12:85955650-85955651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528086719	chr12:85955651-85955652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs115804693	chr12:85955685-85955686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs568127048	chr12:85955717-85955718	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
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
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
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21364760	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:85954000-85955400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:85955400-85955800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:85958200-85968800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:85959000-85960200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:85959200-85959400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr12:85959400-85961600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr12:85960200-85960400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:85960600-85962000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:85961600-85964000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr12:85961800-85963800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:85961800-85964000	Enhancers	HMEC	breast
12	chr12:85962000-85962800	Enhancers	Esophagus	oesophagus
13	chr12:85962000-85962800	Enhancers	Pancreas	Pancrea
14	chr12:85962000-85963800	Enhancers	NHEK	skin
15	chr12:85962000-85964000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:85962200-85962600	Enhancers	Brain Substantia Nigra	brain
17	chr12:85962200-85962800	Enhancers	Fetal Intestine Small	intestine
18	chr12:85962200-85962800	Enhancers	Fetal Lung	lung
19	chr12:85962400-85962600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:85962400-85963000	Enhancers	Fetal Intestine Large	intestine
21	chr12:85962600-85963800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:85962800-85964600	Weak transcription	Fetal Intestine Small	intestine
23	chr12:85963000-85967800	Weak transcription	Fetal Intestine Large	intestine
24	chr12:85963200-85963600	Enhancers	Fetal Heart	heart
25	chr12:85964600-85964800	Enhancers	Fetal Intestine Small	intestine
26	chr12:85964800-85965200	Weak transcription	Fetal Intestine Small	intestine
27	chr12:85965200-85965400	Enhancers	Fetal Intestine Small	intestine
28	chr12:85965400-85967600	Weak transcription	Fetal Intestine Small	intestine
29	chr12:85965800-85966800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:85965800-85967600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:85966000-85967400	Enhancers	Muscle Satellite Cultured Cells	--
32	chr12:85966000-85967800	Enhancers	Osteobl	bone
33	chr12:85966200-85967000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:85966200-85967800	Enhancers	HSMM	muscle
35	chr12:85966800-85969200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr12:85967000-85974200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:85967600-85968000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr12:85967600-85968000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:85967600-85968000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:85967600-85968800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:85967600-85969600	Enhancers	Fetal Intestine Small	intestine
42	chr12:85967800-85968000	Enhancers	Fetal Intestine Large	intestine
43	chr12:85968000-85969000	Weak transcription	Fetal Intestine Large	intestine

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