Variant report

Variant	nsv832430
Chromosome Location	chr12:59552811-59658333
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:59577181..59579768-chr12:59589219..59591001,2	MCF-7	breast:
2	chr12:59543592..59544432-chr12:59558545..59559537,3	MCF-7	breast:
3	chr12:59586597..59588701-chr12:59589774..59591287,2	MCF-7	breast:
4	chr12:59567506..59568224-chr12:59739584..59740478,2	MCF-7	breast:
5	chr12:59655684..59657205-chr12:59659679..59661187,2	MCF-7	breast:
6	chr12:59577181..59579768-chr12:59589219..59591001,2	MCF-7	breast:
7	chr12:59586597..59588701-chr12:59589774..59591287,2	MCF-7	breast:
8	chr12:59567188..59568180-chr12:59766489..59767406,3	MCF-7	breast:
9	chr12:59653805..59656189-chr12:59672943..59675327,2	MCF-7	breast:

No data

Extended variants
information (count: 1807 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1807 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548671012	chr12:59552853-59552854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374504816	chr12:59552868-59552869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562897014	chr12:59552911-59552912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570156631	chr12:59552916-59552917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531954253	chr12:59552957-59552958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs141906671	chr12:59552969-59552970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs386763436	chr12:59552974-59552975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12425817	chr12:59553011-59553012	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs112211511	chr12:59553042-59553043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75901192	chr12:59553072-59553073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12423246	chr12:59553092-59553093	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs574261245	chr12:59553105-59553106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs56894765	chr12:59553109-59553110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575399928	chr12:59553114-59553115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550371326	chr12:59553161-59553162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535289252	chr12:59553175-59553176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141777837	chr12:59553212-59553213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575333305	chr12:59553219-59553220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545473987	chr12:59553260-59553261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564061428	chr12:59553306-59553307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572884987	chr12:59553314-59553315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368335625	chr12:59553370-59553371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77721277	chr12:59553376-59553377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560109862	chr12:59553390-59553391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs60508428	chr12:59553409-59553410	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs548831805	chr12:59553443-59553444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35106282	chr12:59553474-59553475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563620480	chr12:59553496-59553497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531078763	chr12:59553538-59553539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552395892	chr12:59553565-59553566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148446721	chr12:59553579-59553580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187532227	chr12:59553619-59553620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546178526	chr12:59553634-59553635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566140695	chr12:59553689-59553690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113196605	chr12:59553719-59553720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150964308	chr12:59553738-59553739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535318425	chr12:59553742-59553743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200754695	chr12:59553747-59553748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115465385	chr12:59553766-59553767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555254988	chr12:59553789-59553790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369135418	chr12:59553793-59553794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11172920	chr12:59553821-59553822	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs183094141	chr12:59553844-59553845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539478068	chr12:59553845-59553846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557583998	chr12:59553871-59553872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572848317	chr12:59553879-59553880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188798856	chr12:59553900-59553901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560070310	chr12:59553916-59553917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574629006	chr12:59553945-59553946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115590990	chr12:59553954-59553955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Wilms tumour	21544195	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
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	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	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59551000-59557600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:59557400-59559000	Enhancers	NH-A	brain
3	chr12:59557600-59559000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:59558200-59558600	Enhancers	Placenta Amnion	Placenta Amnion
5	chr12:59558600-59558800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:59558600-59559000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:59558600-59559000	Enhancers	Osteobl	bone
8	chr12:59558800-59559000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:59558800-59559000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:59559000-59560600	Weak transcription	NH-A	brain
11	chr12:59559200-59561200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:59559600-59562000	Enhancers	Fetal Intestine Small	intestine
13	chr12:59559600-59562800	Enhancers	Fetal Intestine Large	intestine
14	chr12:59559800-59560800	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr12:59560000-59560200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:59560000-59560600	Enhancers	Stomach Mucosa	stomach
17	chr12:59560200-59560400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:59560400-59563200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:59560600-59561000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:59560600-59561000	Enhancers	NH-A	brain
21	chr12:59561200-59561600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:59561600-59561800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr12:59561800-59562200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr12:59561800-59562800	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr12:59561800-59562800	Enhancers	Fetal Brain Female	brain
26	chr12:59562200-59562800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:59562200-59563000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr12:59562400-59562800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:59562400-59562800	Enhancers	Brain Germinal Matrix	brain
30	chr12:59570400-59570800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr12:59570800-59571200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr12:59572200-59572400	Enhancers	HMEC	breast
33	chr12:59572400-59573400	Weak transcription	HMEC	breast
34	chr12:59573000-59573800	Enhancers	Muscle Satellite Cultured Cells	--
35	chr12:59573200-59573600	Enhancers	Hela-S3	cervix
36	chr12:59573400-59573800	Enhancers	HMEC	breast
37	chr12:59573800-59575000	Weak transcription	HMEC	breast
38	chr12:59573800-59575400	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr12:59575000-59575400	Enhancers	HMEC	breast
40	chr12:59575200-59575400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:59576000-59576200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr12:59576400-59576600	Enhancers	Muscle Satellite Cultured Cells	--
43	chr12:59578400-59579000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:59578400-59579000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:59578600-59580400	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr12:59579000-59579200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr12:59579000-59579400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr12:59579200-59579400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr12:59579400-59579600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr12:59579400-59580600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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