Variant report

Variant	nsv528618
Chromosome Location	chr2:141340626-141350100
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	chr2:141337531..141339093-chr2:141342570..141345467,2	MCF-7	breast:

miRNA name	Chromosome Location	mirBase accession
hsa-miR-7157-3p	chr2:141344195-141344216	MIMAT0028225
hsa-miR-7157-5p	chr2:141344232-141344254	MIMAT0028224

Extended variants
information (count: 55 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547781574	chr2:141341612-141341613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs567960648	chr2:141341644-141341645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182377510	chr2:141341660-141341661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs112151038	chr2:141341757-141341758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576543255	chr2:141341765-141341766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538371803	chr2:141341776-141341777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558250345	chr2:141341797-141341798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571774069	chr2:141341833-141341834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs6739600	chr2:141341840-141341841	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs140687412	chr2:141341851-141341852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs62171941	chr2:141341929-141341930	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs201233900	chr2:141341957-141341958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs141738791	chr2:141341960-141341961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35137673	chr2:141341975-141341976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112321127	chr2:141342064-141342065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186705462	chr2:141342067-141342068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563534601	chr2:141342099-141342100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532186580	chr2:141342127-141342128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545993136	chr2:141342130-141342131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565397724	chr2:141342131-141342132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192252363	chr2:141342145-141342146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185792793	chr2:141342242-141342243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs542644669	chr2:141342256-141342257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567550457	chr2:141342306-141342307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1485844	chr2:141342315-141342316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550183791	chr2:141342352-141342353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs72894786	chr2:141342355-141342356	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs538860598	chr2:141342398-141342399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs147636241	chr2:141342444-141342445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369726030	chr2:141342445-141342446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs368700769	chr2:141342518-141342519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558685796	chr2:141342526-141342527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs193192965	chr2:141342527-141342528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371702137	chr2:141342536-141342537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs75092740	chr2:141342555-141342556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs138611631	chr2:141342569-141342570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574337100	chr2:141342583-141342584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs56148568	chr2:141344200-141344201	Inactive region	miRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs567922360	chr2:141347030-141347031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536464602	chr2:141347107-141347108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556301415	chr2:141347110-141347111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569456743	chr2:141347132-141347133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572740647	chr2:141347166-141347167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs150652531	chr2:141347170-141347171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189273009	chr2:141347214-141347215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs571923712	chr2:141347316-141347317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs6709155	chr2:141347420-141347421	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs554582101	chr2:141347434-141347435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574634773	chr2:141347511-141347512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139685620	chr2:141347524-141347525	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma	21080181	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Autism	22543975	CNVD
Cancer	20164920	CNVD
Hypertension	22686481	CNVD
Hypospadia	22686481	CNVD
Intellectual disability	22686481	CNVD
Omphalocele	22686481	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:141341600-141342400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:141342000-141342600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr2:141347000-141347600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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