Variant report

Variant	nsv510602
Chromosome Location	chr12:58722449-58770942
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:58760957..58763138-chr12:58764280..58767026,2	MCF-7	breast:
2	chr12:58742610..58744562-chr12:58927011..58929132,2	MCF-7	breast:
3	chr12:58747391..58749257-chr12:58750892..58753710,2	K562	blood:
4	chr12:58736391..58738065-chr12:58925171..58927008,2	MCF-7	breast:
5	chr12:58752090..58754916-chr12:58756475..58758271,3	MCF-7	breast:
6	chr12:58746425..58748704-chr3:13576303..13578892,2	MCF-7	breast:
7	chr12:58750387..58753125-chr12:58754424..58756827,2	MCF-7	breast:
8	chr12:58745108..58747905-chr12:58817447..58819128,2	MCF-7	breast:
9	chr12:58750387..58753125-chr12:58754424..58756827,2	MCF-7	breast:
10	chr12:58747391..58749257-chr12:58750892..58753710,2	K562	blood:
11	chr12:58739581..58740441-chr12:59543579..59544208,2	MCF-7	breast:
12	chr12:58702936..58706179-chr12:58735514..58738404,3	MCF-7	breast:
13	chr12:58752090..58754916-chr12:58756475..58758271,3	MCF-7	breast:
14	chr12:58739967..58740565-chr12:59543543..59544432,2	K562	blood:
15	chr12:58747318..58749017-chr12:58808479..58811470,2	MCF-7	breast:
16	chr12:58739526..58740942-chr12:58837106..58837716,4	MCF-7	breast:
17	chr12:58760957..58763138-chr12:58764280..58767026,2	MCF-7	breast:
18	chr12:58704331..58705154-chr12:58735410..58735918,2	MCF-7	breast:

No data

Extended variants
information (count: 1567 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1567 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61921206	chr12:58722517-58722518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs375538103	chr12:58722599-58722600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369831696	chr12:58722606-58722607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372531508	chr12:58722647-58722648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376874533	chr12:58722704-58722705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201324234	chr12:58722715-58722716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199841883	chr12:58722736-58722737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78509387	chr12:58722752-58722753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77425310	chr12:58722767-58722768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568522538	chr12:58722775-58722776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201906643	chr12:58722783-58722784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs56028920	chr12:58722786-58722787	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs75356982	chr12:58722806-58722807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4105024	chr12:58722816-58722817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371147764	chr12:58722820-58722821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373736210	chr12:58722839-58722840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142754313	chr12:58722890-58722891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139983752	chr12:58722938-58722939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs61921208	chr12:58722943-58722944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201232468	chr12:58722971-58722972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201140782	chr12:58723033-58723034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191235634	chr12:58723048-58723049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs55866052	chr12:58723053-58723054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200914262	chr12:58723056-58723057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369871078	chr12:58723061-58723062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373316394	chr12:58723064-58723065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs202216022	chr12:58723118-58723119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200381246	chr12:58723125-58723126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376068508	chr12:58723133-58723134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375003219	chr12:58723135-58723136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201485978	chr12:58723136-58723137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370967412	chr12:58723157-58723158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375832994	chr12:58723159-58723160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368306351	chr12:58723162-58723163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199510252	chr12:58723214-58723215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200365857	chr12:58723225-58723226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201166122	chr12:58723232-58723233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199659490	chr12:58723233-58723234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372557967	chr12:58723243-58723244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200487228	chr12:58723247-58723248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377255211	chr12:58723248-58723249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201895539	chr12:58723323-58723324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370489709	chr12:58723329-58723330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374177844	chr12:58723331-58723332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192390905	chr12:58723369-58723370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377620242	chr12:58723405-58723406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371330318	chr12:58723421-58723422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs202045470	chr12:58723435-58723436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199661535	chr12:58723460-58723461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370539219	chr12:58723461-58723462	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
Autism	20531469	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
Breast cancer	21364760	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58720200-58724000	Weak transcription	Adipose Nuclei	Adipose
2	chr12:58724000-58724400	Active TSS	Adipose Nuclei	Adipose
3	chr12:58730400-58730600	Enhancers	A549	lung
4	chr12:58730600-58731200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr12:58730600-58731200	Enhancers	Fetal Kidney	kidney
6	chr12:58730600-58731200	Enhancers	NHLF	lung
7	chr12:58730600-58731400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:58730600-58731400	Flanking Active TSS	A549	lung
9	chr12:58730600-58731400	Enhancers	Hela-S3	cervix
10	chr12:58730600-58731400	Enhancers	HepG2	liver
11	chr12:58730600-58731400	Enhancers	HUVEC	blood vessel
12	chr12:58730600-58731400	Enhancers	NH-A	brain
13	chr12:58730600-58731400	Enhancers	NHDF-Ad	bronchial
14	chr12:58730600-58731600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:58730600-58731600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:58730600-58731800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr12:58730600-58731800	Enhancers	Fetal Heart	heart
18	chr12:58730600-58732000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:58730600-58732200	Enhancers	Fetal Intestine Large	intestine
20	chr12:58730800-58731200	Enhancers	Adipose Nuclei	Adipose
21	chr12:58730800-58731200	Enhancers	NHEK	skin
22	chr12:58730800-58731400	Enhancers	HSMMtube	muscle
23	chr12:58730800-58731400	Enhancers	Osteobl	bone
24	chr12:58731000-58731400	Enhancers	Fetal Lung	lung
25	chr12:58731000-58731400	Enhancers	HSMM	muscle
26	chr12:58731000-58732600	Enhancers	Fetal Intestine Small	intestine
27	chr12:58731200-58731600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:58731200-58735600	Weak transcription	Fetal Kidney	kidney
29	chr12:58731200-58735600	Weak transcription	NHLF	lung
30	chr12:58731200-58736200	Weak transcription	Adipose Nuclei	Adipose
31	chr12:58731400-58734600	Weak transcription	HUVEC	blood vessel
32	chr12:58731400-58735200	Weak transcription	Fetal Lung	lung
33	chr12:58731400-58735600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:58731400-58735600	Weak transcription	NH-A	brain
35	chr12:58731400-58735600	Weak transcription	NHDF-Ad	bronchial
36	chr12:58731400-58736400	Weak transcription	HSMMtube	muscle
37	chr12:58731600-58735600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:58731600-58746600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:58731800-58735600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr12:58731800-58738200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr12:58732000-58736200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:58733800-58734200	Enhancers	Fetal Muscle Leg	muscle
43	chr12:58734200-58736200	Weak transcription	Fetal Muscle Leg	muscle
44	chr12:58734600-58737000	Enhancers	HUVEC	blood vessel
45	chr12:58735200-58736200	Enhancers	Primary hematopoietic stem cells	blood
46	chr12:58735200-58736600	Enhancers	Fetal Lung	lung
47	chr12:58735400-58735600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr12:58735400-58736400	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr12:58735400-58736800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr12:58735400-58736800	Enhancers	Fetal Stomach	stomach

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