Variant report

Variant	nsv8919
Chromosome Location	chr12:11425363-11434135
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	FOS	chr12:11426499-11426683	MCF10A-Er-Src	breast:	n/a	chr12:11426623-11426633 chr12:11426623-11426633 chr12:11426624-11426631 chr12:11426624-11426633
2	FOS	chr12:11433334-11433357	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr12:11426502-11426755	MCF10A-Er-Src	breast:	n/a	chr12:11426623-11426633 chr12:11426623-11426633 chr12:11426624-11426631 chr12:11426624-11426633
4	FOS	chr12:11433639-11433673	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr12:11426495-11426749	MCF10A-Er-Src	breast:	n/a	chr12:11426623-11426633 chr12:11426623-11426633 chr12:11426624-11426631 chr12:11426624-11426633
6	FOS	chr12:11426490-11426749	MCF10A-Er-Src	breast:	n/a	chr12:11426623-11426633 chr12:11426623-11426633 chr12:11426624-11426631 chr12:11426624-11426633
7	MAFF	chr12:11433777-11433859	K562	blood:	n/a	n/a
8	MAFF	chr12:11433654-11433885	HepG2	liver:	n/a	n/a
9	MAFK	chr12:11433631-11433886	IMR90	lung:	n/a	chr12:11433769-11433789
10	MAFK	chr12:11433616-11433932	HepG2	liver:	n/a	chr12:11433769-11433789
11	MAFK	chr12:11433704-11433891	HepG2	liver:	n/a	chr12:11433769-11433789
12	MAZ	chr12:11433806-11433916	HepG2	liver:	n/a	n/a
13	POLR2A	chr12:11426329-11426415	A549	lung:	n/a	n/a
14	RFX5	chr12:11430723-11430748	K562	blood:	n/a	n/a
15	STAT3	chr12:11426954-11427033	MCF10A-Er-Src	breast:	n/a	n/a
16	STAT3	chr12:11426521-11426733	MCF10A-Er-Src	breast:	n/a	chr12:11426623-11426632 chr12:11426597-11426605

Variant related genes	Relation type
PRB3	TF binding region

Extended variants
information (count: 338 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:338 , 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	rs141012092	chr12:11425377-11425378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12316372	chr12:11425379-11425380	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs563886127	chr12:11425388-11425389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532534448	chr12:11425416-11425417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs56101939	chr12:11425424-11425425	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs559394121	chr12:11425438-11425439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs61604574	chr12:11425449-11425450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs367600854	chr12:11425450-11425451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs398044271	chr12:11425451-11425452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145532089	chr12:11425468-11425469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs397691563	chr12:11425474-11425475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11054211	chr12:11425475-11425476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs367922002	chr12:11425494-11425495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528470263	chr12:11425497-11425498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527558531	chr12:11425513-11425514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185546466	chr12:11425618-11425619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549556523	chr12:11425626-11425627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568309779	chr12:11425640-11425641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201261583	chr12:11425646-11425647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188777843	chr12:11425664-11425665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76870242	chr12:11425676-11425677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550535126	chr12:11425712-11425713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570640676	chr12:11425733-11425734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539228107	chr12:11425734-11425735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553105637	chr12:11425761-11425762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7980324	chr12:11425774-11425775	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs535481006	chr12:11425854-11425855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550734485	chr12:11425878-11425879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373599473	chr12:11425942-11425943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192035400	chr12:11425952-11425953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184226271	chr12:11425967-11425968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555402109	chr12:11426028-11426029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575061493	chr12:11426056-11426057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367765994	chr12:11426100-11426101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563796588	chr12:11426114-11426115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577391089	chr12:11426135-11426136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372154132	chr12:11426177-11426178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545946927	chr12:11426273-11426274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs112847000	chr12:11426325-11426326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs145680731	chr12:11426329-11426330	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs188640076	chr12:11426343-11426344	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs562096957	chr12:11426345-11426346	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs148935221	chr12:11426361-11426362	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs55707460	chr12:11426372-11426373	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs181045576	chr12:11426381-11426382	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs111941423	chr12:11426471-11426472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546805214	chr12:11426486-11426487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs112397010	chr12:11426507-11426508	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs535523986	chr12:11426508-11426509	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs57906285	chr12:11426547-11426548	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:99)

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
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
Breast cancer	22522925	CNVD
Mental retardation	20877625	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19812545	CNVD
small cell lung cancer	20016488	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	20531469	CNVD
Cancer	20164920	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11407400-11440200	Weak transcription	Primary T cells from cord blood	blood
2	chr12:11425000-11432400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr12:11426200-11427000	Enhancers	HMEC	breast
4	chr12:11429800-11433800	Weak transcription	Liver	Liver
5	chr12:11430600-11433200	Weak transcription	Left Ventricle	heart
6	chr12:11431000-11431200	Active TSS	Adipose Nuclei	Adipose
7	chr12:11431000-11433200	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr12:11431200-11433400	Weak transcription	Adipose Nuclei	Adipose
9	chr12:11432400-11433000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr12:11433400-11434000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:11433400-11434200	Strong transcription	Adipose Nuclei	Adipose
12	chr12:11433800-11434000	ZNF genes & repeats	Liver	Liver

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