Variant report

Variant	nsv559151
Chromosome Location	chr12:62390768-62394361
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:62392186..62394939-chr12:62398107..62400504,2	MCF-7	breast:
2	chr12:61822855..61824630-chr12:62390503..62393060,2	K562	blood:

Extended variants
information (count: 137 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11832185	chr12:62390768-62390769	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs546948917	chr12:62390777-62390778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12819244	chr12:62390830-62390831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146540260	chr12:62390859-62390860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192160512	chr12:62390894-62390895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554629949	chr12:62390907-62390908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs202078533	chr12:62390943-62390944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs35419865	chr12:62390948-62390949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs72514111	chr12:62390949-62390950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548448779	chr12:62390972-62390973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs56011904	chr12:62390974-62390975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34091693	chr12:62390975-62390976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35284265	chr12:62390976-62390977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368766501	chr12:62390978-62390979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570697792	chr12:62390980-62390981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539091940	chr12:62390982-62390983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552918493	chr12:62391006-62391007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs572642410	chr12:62391016-62391017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145403184	chr12:62391064-62391065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555000405	chr12:62391082-62391083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148957697	chr12:62391087-62391088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544758731	chr12:62391139-62391140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564650125	chr12:62391152-62391153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs143758816	chr12:62391160-62391161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs386763594	chr12:62391166-62391167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs12228666	chr12:62391173-62391174	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs529256229	chr12:62391200-62391201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs79901243	chr12:62391238-62391239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs549507097	chr12:62391261-62391262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73312225	chr12:62391262-62391263	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs34004942	chr12:62391281-62391282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs35735701	chr12:62391288-62391289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs12371873	chr12:62391298-62391299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs185176786	chr12:62391326-62391327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550729055	chr12:62391422-62391423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs371734484	chr12:62391428-62391429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs148153504	chr12:62391455-62391456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs79977768	chr12:62391496-62391497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs17125609	chr12:62391552-62391553	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs566136905	chr12:62391557-62391558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs77043770	chr12:62391588-62391589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs35341551	chr12:62391613-62391614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555061245	chr12:62391618-62391619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574969314	chr12:62391622-62391623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10877780	chr12:62391626-62391627	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs539041819	chr12:62391635-62391636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558319190	chr12:62391743-62391744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs578218848	chr12:62391766-62391767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs201733431	chr12:62391843-62391844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs540921303	chr12:62391864-62391865	Weak transcription Enhancers	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
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
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
Hodgkin''s lymphoma	18179710	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	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
Metanephric adenoma	20802469	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
Man infertility	21397064	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	21346763	CNVD
Breast cancer	20369283	CNVD
Schizophrenia	20967226	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62386400-62392600	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr12:62387800-62392600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr12:62390200-62391200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:62390600-62391000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:62391000-62392600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:62391200-62393600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:62392400-62393200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr12:62392600-62393000	Enhancers	Brain Anterior Caudate	brain
9	chr12:62392600-62393000	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr12:62392600-62393200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:62392600-62393200	Enhancers	Brain Hippocampus Middle	brain
12	chr12:62392600-62393400	Enhancers	Adipose Nuclei	Adipose
13	chr12:62392600-62393600	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr12:62392600-62394200	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr12:62393000-62393400	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr12:62393200-62393600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:62393400-62396600	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr12:62393600-62396600	Weak transcription	Primary monocytes fromperipheralblood	blood

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