Variant report

Variant	nsv975615
Chromosome Location	chr12:11063847-11076282
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	ARID3A	chr12:11071698-11071803	HepG2	liver:	n/a	n/a
2	CTCF	chr12:11072040-11072190	Caco-2	colon:	n/a	n/a
3	FOXA1	chr12:11071456-11071958	HepG2	liver:	n/a	chr12:11071682-11071697 chr12:11071684-11071696 chr12:11071534-11071546 chr12:11071715-11071730
4	FOXA1	chr12:11071500-11071845	T-47D	breast:	n/a	chr12:11071682-11071697 chr12:11071684-11071696 chr12:11071534-11071546 chr12:11071715-11071730
5	FOXA2	chr12:11074233-11074450	HepG2	liver:	n/a	n/a
6	FOXA2	chr12:11071411-11072008	A549	lung:	n/a	chr12:11071684-11071696 chr12:11071534-11071546
7	JUN	chr12:11069650-11069864	HepG2	liver:	n/a	chr12:11069757-11069770
8	KAP1	chr12:11073002-11073318	K562	blood:	n/a	n/a
9	MAFK	chr12:11075107-11075120	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr12:11072181-11072239	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr12:11072132-11072389	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr12:11067514-11067692	K562	blood:	n/a	n/a
13	POLR2A	chr12:11066491-11066600	MCF10A-Er-Src	breast:	n/a	n/a
14	RFX5	chr12:11066359-11066365	K562	blood:	n/a	n/a
15	STAT3	chr12:11071629-11071813	MCF10A-Er-Src	breast:	n/a	n/a
16	STAT3	chr12:11068395-11068587	MCF10A-Er-Src	breast:	n/a	n/a
17	TAL1	chr12:11070124-11070158	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:11062779..11064988-chr12:11068895..11070705,2	K562	blood:
2	chr12:11065171..11067807-chr12:11068288..11070979,2	K562	blood:
3	chr12:11060198..11062060-chr12:11071921..11074796,2	MCF-7	breast:
4	chr12:11044254..11045058-chr12:11074291..11074831,2	MCF-7	breast:
5	chr12:11065171..11067807-chr12:11068288..11070979,2	K562	blood:
6	chr12:10994716..10997527-chr12:11072038..11073829,2	K562	blood:
7	chr12:11062779..11064988-chr12:11068895..11070705,2	K562	blood:

Variant related genes	Relation type
TAS2R13	TF binding region

Extended variants
information (count: 413 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:413 , 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	rs533022326	chr12:11063857-11063858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546610079	chr12:11063885-11063886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375525482	chr12:11063923-11063924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566639678	chr12:11063940-11063941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376564744	chr12:11063957-11063958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182332631	chr12:11063972-11063973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7299223	chr12:11063996-11063997	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs568934274	chr12:11064072-11064073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537943495	chr12:11064082-11064083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531425135	chr12:11064087-11064088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577730247	chr12:11064213-11064214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540110764	chr12:11064226-11064227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553435117	chr12:11064298-11064299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573374985	chr12:11064303-11064304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542016322	chr12:11064397-11064398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541992961	chr12:11064401-11064402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562309694	chr12:11064406-11064407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575303800	chr12:11064457-11064458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562241169	chr12:11064477-11064478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544311790	chr12:11064504-11064505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150517817	chr12:11064513-11064514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559915277	chr12:11064538-11064539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533181785	chr12:11064570-11064571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368911375	chr12:11064583-11064584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186899349	chr12:11064599-11064600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560229843	chr12:11064604-11064605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529200307	chr12:11064628-11064629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139508904	chr12:11064647-11064648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527911426	chr12:11064659-11064660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547984451	chr12:11064672-11064673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs72656639	chr12:11064690-11064691	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs149696102	chr12:11064827-11064828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191956578	chr12:11064832-11064833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549726458	chr12:11064895-11064896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147501376	chr12:11064908-11064909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542345506	chr12:11064937-11064938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140085016	chr12:11064944-11064945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535553134	chr12:11064954-11064955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs117412092	chr12:11064983-11064984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567898780	chr12:11065013-11065014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536165343	chr12:11065016-11065017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555503931	chr12:11065143-11065144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113174412	chr12:11065178-11065179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533715039	chr12:11065203-11065204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575466027	chr12:11065246-11065247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553955268	chr12:11065266-11065267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7956586	chr12:11065367-11065368	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs181511548	chr12:11065381-11065382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577607797	chr12:11065406-11065407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556192206	chr12:11065407-11065408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Melanoma	20877625	CNVD
Ovarian cancer	21781307	CNVD
Acute myeloid leukemia	17237825	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Breast cancer	22522925	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Bipolar disorder	19114987	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11033800-11101600	Weak transcription	Ovary	ovary
2	chr12:11039200-11070200	Weak transcription	Left Ventricle	heart
3	chr12:11054400-11084800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:11058000-11081200	Weak transcription	Primary T cells from cord blood	blood
5	chr12:11058200-11081800	Weak transcription	Aorta	Aorta
6	chr12:11060600-11068200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr12:11061600-11079800	Weak transcription	HepG2	liver
8	chr12:11063400-11066200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr12:11064000-11064200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:11064000-11067000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr12:11064200-11065600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:11065200-11067600	Weak transcription	Placenta	Placenta
13	chr12:11065200-11093000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr12:11066200-11066800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr12:11069000-11069200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:11069200-11094800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr12:11070000-11070200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:11070200-11070800	Strong transcription	Left Ventricle	heart
19	chr12:11070400-11070600	Enhancers	Gastric	stomach
20	chr12:11070400-11070800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr12:11070600-11079600	Weak transcription	Gastric	stomach
22	chr12:11070800-11079200	Weak transcription	Left Ventricle	heart
23	chr12:11071200-11071400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:11071400-11079200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:11072000-11072200	Enhancers	A549	lung
26	chr12:11072200-11092800	Weak transcription	A549	lung

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