Variant report

Variant	nsv583199
Chromosome Location	chr2:141551350-141583206
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:141566441..141569231-chr2:141574009..141576790,2	MCF-7	breast:
2	chr2:141578371..141581327-chr2:141582327..141584465,2	MCF-7	breast:
3	chr2:141544738..141546245-chr2:141560718..141563690,2	K562	blood:
4	chr2:141545276..141548084-chr2:141552210..141554901,2	K562	blood:
5	chr2:141578371..141581327-chr2:141582327..141584465,2	MCF-7	breast:
6	chr2:141497933..141498923-chr2:141566337..141567066,2	MCF-7	breast:
7	chr2:141566441..141569231-chr2:141574009..141576790,2	MCF-7	breast:

Extended variants
information (count: 221 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:221 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1486121	chr2:141555280-141555281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565674410	chr2:141555290-141555291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550702804	chr2:141555307-141555308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570667985	chr2:141555312-141555313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533202374	chr2:141555378-141555379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs12618267	chr2:141555392-141555393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185238258	chr2:141555414-141555415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566799521	chr2:141555435-141555436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535412851	chr2:141555438-141555439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs34427563	chr2:141555479-141555480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555082233	chr2:141555512-141555513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568891413	chr2:141555532-141555533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6429845	chr2:141555537-141555538	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs557472079	chr2:141555579-141555580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577021336	chr2:141555604-141555605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs79680541	chr2:141555619-141555620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553237615	chr2:141555646-141555647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs150556924	chr2:141555672-141555673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189169240	chr2:141555681-141555682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375138601	chr2:141555771-141555772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561939548	chr2:141555789-141555790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575652814	chr2:141555798-141555799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536600893	chr2:141555828-141555829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs35837964	chr2:141555865-141555866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564616173	chr2:141555925-141555926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs35664478	chr2:141555935-141555936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558620875	chr2:141555950-141555951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs35996282	chr2:141555956-141555957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs34206400	chr2:141555960-141555961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs35027393	chr2:141555965-141555966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375461537	chr2:141555980-141555981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533137353	chr2:141556044-141556045	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs546849966	chr2:141556048-141556049	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs7588435	chr2:141556073-141556074	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs180699106	chr2:141556103-141556104	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs115487979	chr2:141556118-141556119	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs568753327	chr2:141556136-141556137	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs10928074	chr2:141556177-141556178	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs72920951	chr2:141556179-141556180	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs376654426	chr2:141556189-141556190	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs539611353	chr2:141556197-141556198	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs553174083	chr2:141556199-141556200	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs190506732	chr2:141558806-141558807	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs143167420	chr2:141558841-141558842	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs534924717	chr2:141558851-141558852	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs368078640	chr2:141558866-141558867	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs554606507	chr2:141558883-141558884	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs574354685	chr2:141558892-141558893	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs79053246	chr2:141558899-141558900	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs541467035	chr2:141558904-141558905	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Bipolar disorder	19114987	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:141555200-141555600	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr2:141555200-141556000	Enhancers	GM12878-XiMat	blood
3	chr2:141555400-141555800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr2:141556000-141556200	ZNF genes & repeats	GM12878-XiMat	blood
5	chr2:141558800-141559800	Active TSS	A549	lung
6	chr2:141562200-141563000	Enhancers	NHDF-Ad	bronchial
7	chr2:141562400-141563000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:141579200-141580000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:141579200-141580600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:141579200-141581000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:141579400-141580000	Enhancers	NHDF-Ad	bronchial
12	chr2:141579600-141579800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:141579600-141580600	Enhancers	Hela-S3	cervix
14	chr2:141579600-141580800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:141579800-141580400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr2:141579800-141580400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:141579800-141580400	Enhancers	HMEC	breast
18	chr2:141579800-141580400	Enhancers	NH-A	brain
19	chr2:141579800-141580800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:141579800-141580800	Enhancers	Brain Germinal Matrix	brain
21	chr2:141580000-141580600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:141580000-141580600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:141580000-141580600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:141580000-141580800	Flanking Active TSS	NHDF-Ad	bronchial
25	chr2:141580600-141581200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:141580800-141581000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:141580800-141581200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:141580800-141582200	Enhancers	NHDF-Ad	bronchial
29	chr2:141581200-141581600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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