Variant report

Variant	nsv557454
Chromosome Location	chr12:10417260-10440885
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:10424917..10427474-chr12:10431900..10433911,2	K562	blood:
2	chr12:10424917..10427474-chr12:10431900..10433911,2	K562	blood:
3	chr12:10436832..10439225-chr12:10509141..10511407,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-277P12.7.1-3	chr12:10433068-10433194	XLOC_010016

Variant related genes	Relation type
ZEB2	miRNA target sites

Extended variants
information (count: 833 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:833 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2537798	chr12:10417260-10417261	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs202154558	chr12:10417281-10417282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs72354419	chr12:10417282-10417283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs55751873	chr12:10417302-10417303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539047440	chr12:10417350-10417351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553059483	chr12:10417354-10417355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549974848	chr12:10417406-10417407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570147255	chr12:10417407-10417408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs74754958	chr12:10417411-10417412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185448395	chr12:10417438-10417439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78189422	chr12:10417439-10417440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs75460018	chr12:10417440-10417441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12298271	chr12:10417459-10417460	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs189005513	chr12:10417469-10417470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201354804	chr12:10417514-10417515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545876460	chr12:10417526-10417527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530067630	chr12:10417533-10417534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77777779	chr12:10417582-10417583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2617139	chr12:10417586-10417587	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs77409361	chr12:10417604-10417605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567886704	chr12:10417654-10417655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12371701	chr12:10417658-10417659	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs550886994	chr12:10417659-10417660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143362372	chr12:10417660-10417661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539465821	chr12:10417676-10417677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144841030	chr12:10417682-10417683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552684365	chr12:10417769-10417770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192245333	chr12:10417770-10417771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535495255	chr12:10417812-10417813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11053719	chr12:10417818-10417819	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs144676318	chr12:10417820-10417821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147536764	chr12:10417830-10417831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10845098	chr12:10417924-10417925	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs545798036	chr12:10417935-10417936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555770513	chr12:10418073-10418074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577461167	chr12:10418093-10418094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139393569	chr12:10418121-10418122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188741153	chr12:10418148-10418149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181234224	chr12:10418212-10418213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs58690639	chr12:10418231-10418232	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs574464513	chr12:10418298-10418299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530646505	chr12:10418308-10418309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575730836	chr12:10418339-10418340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs116618550	chr12:10418362-10418363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145327042	chr12:10418393-10418394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11053720	chr12:10418405-10418406	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs186111904	chr12:10418410-10418411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188977092	chr12:10418439-10418440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182470446	chr12:10418445-10418446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557059035	chr12:10418451-10418452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10398800-10436200	Weak transcription	Placenta	Placenta
2	chr12:10426000-10426200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr12:10429000-10429400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:10429000-10442000	Weak transcription	Left Ventricle	heart
5	chr12:10429200-10429400	Enhancers	Primary T cells fromperipheralblood	blood
6	chr12:10429400-10430600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr12:10429400-10433000	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr12:10430600-10431000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:10430600-10431000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr12:10431000-10433000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:10431000-10435400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr12:10433000-10433400	Enhancers	Primary T cells fromperipheralblood	blood
13	chr12:10433000-10433600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:10433400-10435800	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr12:10433600-10434200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:10434200-10435600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:10435400-10435600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:10435400-10435600	Enhancers	Brain Cingulate Gyrus	brain
19	chr12:10435400-10435600	Enhancers	Brain Hippocampus Middle	brain
20	chr12:10435400-10435600	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr12:10435400-10436000	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr12:10435400-10436000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr12:10435400-10436000	Enhancers	Brain Angular Gyrus	brain
24	chr12:10435400-10436400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:10435400-10436400	Enhancers	Brain Anterior Caudate	brain
26	chr12:10435600-10436000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr12:10435600-10436000	Flanking Active TSS	Brain Cingulate Gyrus	brain
28	chr12:10435600-10436000	Flanking Active TSS	Brain Hippocampus Middle	brain
29	chr12:10435600-10436000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
30	chr12:10435600-10436400	Enhancers	Primary hematopoietic stem cells	blood
31	chr12:10435600-10436600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr12:10435800-10436000	Enhancers	Brain Substantia Nigra	brain
33	chr12:10435800-10436400	Enhancers	Primary T cells fromperipheralblood	blood
34	chr12:10436000-10436400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr12:10436000-10436400	Enhancers	Brain Cingulate Gyrus	brain
36	chr12:10436000-10438200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr12:10436400-10441600	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr12:10436600-10437200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr12:10437200-10437800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr12:10437800-10438200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr12:10437800-10438800	Enhancers	Primary T cells from cord blood	blood
42	chr12:10437800-10439400	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr12:10438000-10438600	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr12:10438200-10438400	Enhancers	GM12878-XiMat	blood
45	chr12:10438200-10439000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr12:10438200-10441400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr12:10438400-10438800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:10438400-10438800	Enhancers	HSMM	muscle
49	chr12:10438400-10439000	Flanking Active TSS	GM12878-XiMat	blood
50	chr12:10438600-10441400	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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