Variant report

Variant	nsv469114
Chromosome Location	chr12:11916908-11929481
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:11801832..11803757-chr12:11920063..11922984,2	MCF-7	breast:
2	chr12:11928703..11930258-chr12:11944667..11947353,2	MCF-7	breast:
3	chr12:11915800..11917603-chr12:11959606..11961755,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139083	chromatin interactions

Extended variants
information (count: 490 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:490 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7310017	chr12:11916908-11916909	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs182096501	chr12:11916937-11916938	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs111667271	chr12:11917020-11917021	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs6488451	chr12:11917047-11917048	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs576968140	chr12:11917048-11917049	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs548601189	chr12:11917057-11917058	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs187962227	chr12:11917084-11917085	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs79606428	chr12:11917114-11917115	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs552759216	chr12:11917137-11917138	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs145525737	chr12:11917157-11917158	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs374325173	chr12:11917183-11917184	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs11370418	chr12:11917188-11917189	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs397820572	chr12:11917190-11917191	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs397963241	chr12:11917191-11917192	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs374408345	chr12:11917206-11917207	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs538539881	chr12:11917224-11917225	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs556390003	chr12:11917236-11917237	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs148969955	chr12:11917287-11917288	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs539293328	chr12:11917310-11917311	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs535883010	chr12:11917312-11917313	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs7963499	chr12:11917397-11917398	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs572923668	chr12:11917414-11917415	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs143763865	chr12:11917424-11917425	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs374174646	chr12:11917445-11917446	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs34108341	chr12:11917449-11917450	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs148165693	chr12:11917482-11917483	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs193227735	chr12:11917500-11917501	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs569853676	chr12:11917521-11917522	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs528299218	chr12:11917570-11917571	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs535714869	chr12:11917611-11917612	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs548638157	chr12:11917616-11917617	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs371746345	chr12:11917631-11917632	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs75086296	chr12:11917643-11917644	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs12303587	chr12:11917652-11917653	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs368662884	chr12:11917673-11917674	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs374936739	chr12:11917748-11917749	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs372292184	chr12:11917749-11917750	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs73290521	chr12:11917761-11917762	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs79376607	chr12:11917767-11917768	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs535723846	chr12:11917780-11917781	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs185292086	chr12:11917800-11917801	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs386760410	chr12:11917934-11917935	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs115633943	chr12:11917935-11917936	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs558324817	chr12:11917937-11917938	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs576868541	chr12:11917938-11917939	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs144969517	chr12:11917947-11917948	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs76746261	chr12:11918017-11918018	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530440752	chr12:11918051-11918052	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs371342176	chr12:11918055-11918056	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542109754	chr12:11918070-11918071	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	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
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	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 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
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21680795	CNVD
Cancer	17440070	CNVD
Acute lymphoblastic leukemia	19039135	CNVD
Acute lymphoblastic leukemia	19129520	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Prostate cancer	21088497	CNVD
Myelodysplastic syndrome	22875624	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Alcoholism	21790672	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:742 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11904000-11918000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr12:11905800-11918400	Weak transcription	Fetal Brain Male	brain
3	chr12:11906400-11918600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:11907000-11917200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:11907600-11918200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr12:11908000-11918800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:11908200-11918800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:11908600-11931800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr12:11909200-11919400	Weak transcription	Liver	Liver
10	chr12:11909600-11932400	Genic enhancers	Fetal Thymus	thymus
11	chr12:11909800-11919000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:11912000-11917600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr12:11912000-11918600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:11912400-11918800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:11912400-11918800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:11912400-11918800	Weak transcription	Ovary	ovary
17	chr12:11913000-11918000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr12:11913400-11919000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:11914200-11918000	Genic enhancers	Primary hematopoietic stem cells	blood
20	chr12:11914200-11919000	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr12:11914200-11919800	Enhancers	Brain Anterior Caudate	brain
22	chr12:11914400-11917000	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr12:11914400-11917200	Enhancers	Brain Substantia Nigra	brain
24	chr12:11914400-11918600	Enhancers	Stomach Smooth Muscle	stomach
25	chr12:11914400-11918800	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr12:11914400-11918800	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr12:11914400-11918800	Enhancers	Rectal Smooth Muscle	rectum
28	chr12:11914400-11919200	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr12:11914400-11921600	Enhancers	Primary B cells from peripheral blood	blood
30	chr12:11914400-11925400	Genic enhancers	Dnd41	blood
31	chr12:11914400-11925800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr12:11914600-11917600	Enhancers	Brain Angular Gyrus	brain
33	chr12:11914600-11917600	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr12:11914600-11918000	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr12:11914600-11918000	Enhancers	Fetal Intestine Large	intestine
36	chr12:11914600-11918800	Enhancers	Small Intestine	intestine
37	chr12:11914600-11920400	Enhancers	Fetal Stomach	stomach
38	chr12:11914800-11917200	Enhancers	HSMM	muscle
39	chr12:11914800-11918600	Enhancers	Primary B cells from cord blood	blood
40	chr12:11914800-11918800	Enhancers	Colon Smooth Muscle	Colon
41	chr12:11914800-11918800	Enhancers	Duodenum Mucosa	Duodenum
42	chr12:11914800-11923600	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr12:11915000-11917000	Enhancers	Colonic Mucosa	Colon
44	chr12:11915000-11917000	Enhancers	HMEC	breast
45	chr12:11915000-11917200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr12:11915000-11917600	Enhancers	Pancreas	Pancrea
47	chr12:11915000-11917800	Enhancers	Lung	lung
48	chr12:11915000-11919800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr12:11915000-11919800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr12:11915000-11919800	Enhancers	Cortex derived primary cultured neurospheres	brain

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