Variant report

Variant	esv3339155
Chromosome Location	chr12:11333485-11337883
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	BATF	chr12:11335667-11335960	GM12878	blood:	n/a	chr12:11335847-11335858
2	BCL3	chr12:11335602-11335966	GM12878	blood:	n/a	n/a
3	CEBPB	chr12:11337543-11337617	HepG2	liver:	n/a	chr12:11337560-11337571
4	CEBPB	chr12:11335223-11335465	HepG2	liver:	n/a	chr12:11335342-11335353
5	CEBPB	chr12:11335205-11335458	A549	lung:	n/a	chr12:11335342-11335353
6	CEBPB	chr12:11335197-11335487	Hela-S3	cervix:	n/a	chr12:11335342-11335353
7	CEBPB	chr12:11335237-11335433	K562	blood:	n/a	chr12:11335342-11335353
8	CEBPB	chr12:11335214-11335440	IMR90	lung:	n/a	chr12:11335342-11335353
9	EP300	chr12:11335785-11335844	GM12878	blood:	n/a	n/a
10	FOS	chr12:11335231-11335431	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr12:11335222-11335444	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr12:11335231-11335393	MCF10A-Er-Src	breast:	n/a	n/a
13	FOXM1	chr12:11335569-11335924	GM12878	blood:	n/a	n/a
14	GATA3	chr12:11333303-11333503	SH-SY5Y	brain:	n/a	n/a
15	GATA3	chr12:11335521-11335982	MCF-7	breast:	n/a	chr12:11335699-11335708
16	MYC	chr12:11334468-11334509	H1-hESC	embryonic stem cell:	n/a	n/a
17	NFIC	chr12:11335552-11335973	GM12878	blood:	n/a	n/a
18	POLR2A	chr12:11334282-11334330	MCF10A-Er-Src	breast:	n/a	n/a
19	RUNX3	chr12:11335560-11336072	GM12878	blood:	n/a	n/a
20	RUNX3	chr12:11335592-11336026	GM12878	blood:	n/a	n/a
21	STAT3	chr12:11335260-11335448	MCF10A-Er-Src	breast:	n/a	n/a
22	STAT3	chr12:11335755-11335955	MCF10A-Er-Src	breast:	n/a	n/a
23	STAT3	chr12:11334511-11334711	MCF10A-Er-Src	breast:	n/a	chr12:11334699-11334710
24	STAT5A	chr12:11335645-11336004	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:11328652..11331846-chr12:11337152..11339281,3	MCF-7	breast:
2	chr12:11321748..11327565-chr12:11327784..11333912,14	MCF-7	breast:
3	chr12:11322782..11326787-chr12:11332516..11335699,5	K562	blood:
4	chr12:11331591..11333492-chr12:11338114..11339808,2	K562	blood:
5	chr12:11328230..11331736-chr12:11334279..11336008,3	MCF-7	breast:

Variant related genes	Relation type
TAS2R67P	TF binding region
ENSG00000212127	chromatin interactions
ENSG00000256712	chromatin interactions
ENSG00000256537	chromatin interactions
ENSG00000111215	chromatin interactions
ENSG00000186136	chromatin interactions

Extended variants
information (count: 132 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs319270	chr12:11333542-11333543	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs370744190	chr12:11333568-11333569	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs529002909	chr12:11333594-11333595	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs36002931	chr12:11333613-11333614	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs1451766	chr12:11333632-11333633	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs319271	chr12:11333633-11333634	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs74999883	chr12:11333647-11333648	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs150770891	chr12:11333716-11333717	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs143196376	chr12:11333753-11333754	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs539348445	chr12:11333782-11333783	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs142502269	chr12:11333861-11333862	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs193031390	chr12:11333965-11333966	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs553309776	chr12:11334064-11334065	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs573411772	chr12:11334080-11334081	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs139169100	chr12:11334103-11334104	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs376683494	chr12:11334175-11334176	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs558900348	chr12:11334237-11334238	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs555936681	chr12:11334259-11334260	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs149947048	chr12:11334260-11334261	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs544620121	chr12:11334273-11334274	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs370792715	chr12:11334320-11334321	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs564432867	chr12:11334342-11334343	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs319272	chr12:11334369-11334370	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs112632894	chr12:11334410-11334411	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs139794842	chr12:11334411-11334412	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs529122648	chr12:11334463-11334464	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs143148953	chr12:11334505-11334506	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs530294711	chr12:11334637-11334638	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs562291756	chr12:11334645-11334646	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs146673089	chr12:11334662-11334663	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs184410393	chr12:11334715-11334716	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs571191345	chr12:11334832-11334833	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs319273	chr12:11334853-11334854	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs35470561	chr12:11334860-11334861	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs375203091	chr12:11334894-11334895	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs567043135	chr12:11334959-11334960	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs536102598	chr12:11334962-11334963	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs140286292	chr12:11334978-11334979	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs575817697	chr12:11334986-11334987	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs542815054	chr12:11334991-11334992	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs570354193	chr12:11334999-11335000	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs188752818	chr12:11335126-11335127	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs559614003	chr12:11335152-11335153	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs577992629	chr12:11335164-11335165	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs142584383	chr12:11335171-11335172	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs35449580	chr12:11335221-11335222	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs201611166	chr12:11335223-11335224	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs397763588	chr12:11335224-11335225	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs376903759	chr12:11335285-11335286	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs151078410	chr12:11335304-11335305	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	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
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Squamous cell cancer	19607727	CNVD
Prostate cancer	16573809	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	17237825	CNVD
Acute myeloid leukemia	20729466	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11325000-11335600	Weak transcription	Left Ventricle	heart
2	chr12:11325600-11334400	Weak transcription	Primary B cells from cord blood	blood
3	chr12:11325600-11338200	Weak transcription	Primary B cells from peripheral blood	blood
4	chr12:11326000-11334400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr12:11326200-11334600	Weak transcription	Liver	Liver
6	chr12:11326200-11338600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr12:11326400-11334400	Weak transcription	Fetal Thymus	thymus
8	chr12:11326400-11337400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:11326400-11355600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:11328000-11338600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:11328600-11334400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:11328800-11340400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:11330600-11365400	Weak transcription	Primary T cells from cord blood	blood
14	chr12:11334400-11334600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:11334400-11334800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr12:11334600-11336000	Enhancers	Liver	Liver
17	chr12:11334800-11335000	Enhancers	Brain Germinal Matrix	brain
18	chr12:11335800-11336000	Enhancers	Left Ventricle	heart
19	chr12:11337400-11337600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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