Variant report

Variant	nsv583240
Chromosome Location	chr2:142972199-142998565
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:142980447..142980950-chr6:143813184..143813684,2	MCF-7	breast:
2	chr2:142992863..142994705-chr2:142999609..143001458,2	MCF-7	breast:
3	chr2:16997949..16998630-chr2:142992504..142993306,2	MCF-7	breast:

Extended variants
information (count: 425 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:425 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7606471	chr2:142972199-142972200	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7606551	chr2:142972238-142972239	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs553297512	chr2:142972307-142972308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201839661	chr2:142972312-142972313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548048155	chr2:142972339-142972340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573052008	chr2:142972421-142972422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535573532	chr2:142972426-142972427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145364913	chr2:142972486-142972487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575265403	chr2:142972521-142972522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544279249	chr2:142972607-142972608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2140467	chr2:142972632-142972633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577872251	chr2:142972654-142972655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181315208	chr2:142972688-142972689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186506244	chr2:142972708-142972709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369495074	chr2:142972751-142972752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371713103	chr2:142972808-142972809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560110793	chr2:142972820-142972821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529066313	chr2:142972889-142972890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs117087496	chr2:142972913-142972914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116390224	chr2:142972916-142972917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531382025	chr2:142972960-142972961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551079836	chr2:142973003-142973004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149179461	chr2:142973043-142973044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536807287	chr2:142973070-142973071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539743940	chr2:142973074-142973075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552395533	chr2:142973086-142973087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547241771	chr2:142973141-142973142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566737189	chr2:142973174-142973175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190172280	chr2:142973185-142973186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377421952	chr2:142973252-142973253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181830209	chr2:142973257-142973258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200549050	chr2:142973332-142973333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142398443	chr2:142973342-142973343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553438484	chr2:142973353-142973354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575328268	chr2:142973372-142973373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs72853430	chr2:142973376-142973377	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs557870976	chr2:142973415-142973416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150969732	chr2:142973416-142973417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540175288	chr2:142973456-142973457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370769644	chr2:142973459-142973460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534751591	chr2:142973466-142973467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113324786	chr2:142973532-142973533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573909066	chr2:142973535-142973536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75624507	chr2:142973537-142973538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186163360	chr2:142973546-142973547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs78152311	chr2:142973578-142973579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13009076	chr2:142973606-142973607	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs535452246	chr2:142973610-142973611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs115731022	chr2:142973618-142973619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79091103	chr2:142973636-142973637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
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	21364760	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142972000-142976000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:142975200-142979200	Enhancers	HMEC	breast
3	chr2:142975800-142976400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:142975800-142977000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:142976000-142976400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:142976000-142976400	Enhancers	A549	lung
7	chr2:142976000-142976600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:142976000-142977400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:142976400-142978400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:142976400-142978600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:142976600-142978400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:142977400-142980400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:142978000-142978800	Enhancers	NHEK	skin
14	chr2:142978400-142978800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:142978400-142979000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:142978600-142978800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:142980000-142980400	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr2:142980200-142980600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:142980400-142980600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:142980400-142980600	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr2:142980600-142981000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr2:142981000-142981200	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr2:142992400-142992800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:142992400-142993600	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr2:142992400-142994600	Enhancers	Fetal Lung	lung
26	chr2:142992800-142993200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:142993200-142994600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:142993400-142994200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:142993400-142995000	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr2:142993600-142994400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:142993600-142994600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:142994000-142994400	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr2:142994000-142994600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr2:142994000-142994600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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