Variant report

Variant	nsv898928
Chromosome Location	chr12:25458354-25499342
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:25347544..25349649-chr12:25483640..25485970,2	MCF-7	breast:
2	chr12:25490326..25492568-chr12:25495256..25497193,2	MCF-7	breast:
3	chr12:25488663..25491627-chr12:25537641..25539186,2	MCF-7	breast:
4	chr12:25403205..25406178-chr12:25481139..25483309,2	MCF-7	breast:
5	chr12:25467024..25469449-chr12:25537927..25540191,2	K562	blood:
6	chr12:25490326..25492568-chr12:25495256..25497193,2	MCF-7	breast:
7	chr12:25479913..25482460-chr12:25536824..25539045,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000205707	chromatin interactions
ENSG00000133703	chromatin interactions
ENSG00000118307	chromatin interactions

Extended variants
information (count: 1268 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:1268 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11047943	chr12:25458354-25458355	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531495572	chr12:25458433-25458434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11519081	chr12:25458449-25458450	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs574024897	chr12:25458459-25458460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544493065	chr12:25458489-25458490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375878890	chr12:25458515-25458516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556137656	chr12:25458572-25458573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577978134	chr12:25458600-25458601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142784308	chr12:25458670-25458671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs59735931	chr12:25458671-25458672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs398055415	chr12:25458674-25458675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs117734906	chr12:25458686-25458687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542293361	chr12:25458709-25458710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9943867	chr12:25458715-25458716	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs4436637	chr12:25458722-25458723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542849962	chr12:25458808-25458809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs180682798	chr12:25458820-25458821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139224999	chr12:25458846-25458847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550455873	chr12:25458859-25458860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186381706	chr12:25458861-25458862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149899133	chr12:25458877-25458878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74618532	chr12:25458974-25458975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs4438135	chr12:25458996-25458997	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs539393073	chr12:25459045-25459046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533862541	chr12:25459080-25459081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4438136	chr12:25459092-25459093	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs567458843	chr12:25459139-25459140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576154395	chr12:25459155-25459156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191591753	chr12:25459167-25459168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182989384	chr12:25459190-25459191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544557653	chr12:25459226-25459227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148662572	chr12:25459240-25459241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111331874	chr12:25459273-25459274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7957222	chr12:25459280-25459281	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs574902467	chr12:25459285-25459286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141401293	chr12:25459318-25459319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542713336	chr12:25459339-25459340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187079559	chr12:25459388-25459389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115132542	chr12:25459423-25459424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544357925	chr12:25459424-25459425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565600175	chr12:25459484-25459485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532677289	chr12:25459492-25459493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4442633	chr12:25459591-25459592	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs560188643	chr12:25459638-25459639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190569987	chr12:25459679-25459680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549109293	chr12:25459772-25459773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567215803	chr12:25459775-25459776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs60655178	chr12:25459794-25459795	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs113710910	chr12:25459811-25459812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549692143	chr12:25459832-25459833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	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
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	17133270	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Lung cancer	21911935	CNVD
Breast cancer	22048815	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Heart disease	21282601	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Gastric cancer	24379144	CNVD
Gastric cancer	19545448	CNVD
Lung cancer	20031968	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung adenocarcinoma	19826477	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19826477	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	17504988	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	19671679	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Lung cancer	21569311	CNVD
Lung adenocarcinoma	17982442	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:298 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:25455600-25460200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr12:25456600-25461400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:25460200-25462600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:25460600-25461600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr12:25460600-25462200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:25461000-25461200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:25461000-25461200	Bivalent Enhancer	NHDF-Ad	bronchial
8	chr12:25461000-25461600	Enhancers	Osteobl	bone
9	chr12:25461200-25461800	Enhancers	NHLF	lung
10	chr12:25461200-25462000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:25461200-25462000	Enhancers	NH-A	brain
12	chr12:25461200-25462200	Enhancers	NHDF-Ad	bronchial
13	chr12:25461400-25462000	Enhancers	Fetal Intestine Large	intestine
14	chr12:25461400-25462200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:25461400-25462200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:25461600-25464200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:25462000-25462200	Enhancers	HMEC	breast
18	chr12:25462200-25464000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:25462200-25464400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:25462200-25464600	Weak transcription	NHDF-Ad	bronchial
21	chr12:25462600-25464200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:25464000-25465000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:25464200-25464800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:25464400-25465000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr12:25464400-25465000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr12:25464600-25464800	Enhancers	NHDF-Ad	bronchial
27	chr12:25464800-25466400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr12:25465000-25465200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:25465000-25465800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr12:25465000-25466200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:25465000-25466400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:25465200-25466200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:25465400-25466000	Enhancers	NHEK	skin
34	chr12:25465800-25466000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr12:25465800-25466400	Enhancers	HMEC	breast
36	chr12:25465800-25466600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:25466200-25466800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr12:25466200-25467200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:25466200-25467200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr12:25466400-25466600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:25466400-25466600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:25467200-25470200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr12:25470200-25471400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:25470400-25471000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr12:25470400-25471400	Enhancers	Primary B cells from peripheral blood	blood
46	chr12:25471000-25471400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr12:25471400-25471600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:25471400-25472400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:25471400-25472600	Weak transcription	Primary B cells from peripheral blood	blood
50	chr12:25471600-25475400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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