Variant report

Variant	nsv583239
Chromosome Location	chr2:142909185-142963976
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:142938634..142939427-chr2:143044106..143044808,2	MCF-7	breast:
2	chr2:142923021..142923559-chr2:143339611..143340557,2	MCF-7	breast:
3	chr2:142923038..142923887-chr2:143361151..143361987,2	MCF-7	breast:

Extended variants
information (count: 769 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:769 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144481348	chr2:142923408-142923409	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs551313014	chr2:142923421-142923422	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs571070869	chr2:142923498-142923499	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs192223449	chr2:142923528-142923529	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs17776027	chr2:142923532-142923533	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs370003205	chr2:142923562-142923563	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs535101826	chr2:142923599-142923600	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs375596997	chr2:142923647-142923648	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs535988948	chr2:142923649-142923650	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs184328529	chr2:142923655-142923656	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs17776043	chr2:142923656-142923657	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs568586275	chr2:142923727-142923728	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs147982305	chr2:142923749-142923750	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs72852654	chr2:142923753-142923754	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs188331470	chr2:142923768-142923769	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs191630718	chr2:142923775-142923776	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs559941497	chr2:142923781-142923782	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs184343360	chr2:142923786-142923787	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs533355672	chr2:142923787-142923788	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs576144671	chr2:142933603-142933604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184638689	chr2:142933652-142933653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189427909	chr2:142933727-142933728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558705756	chr2:142933891-142933892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs76775413	chr2:142933920-142933921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs148968474	chr2:142934007-142934008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368232366	chr2:142934070-142934071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs560711324	chr2:142934088-142934089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574321063	chr2:142934108-142934109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs143083300	chr2:142934132-142934133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563132505	chr2:142934178-142934179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs34273460	chr2:142934191-142934192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531803539	chr2:142934208-142934209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551512787	chr2:142934222-142934223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181943702	chr2:142934281-142934282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs527771213	chr2:142934285-142934286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs547434384	chr2:142934304-142934305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572192246	chr2:142934322-142934323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs74608818	chr2:142934333-142934334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183497299	chr2:142934415-142934416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567533754	chr2:142934428-142934429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530040107	chr2:142934435-142934436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189196152	chr2:142934466-142934467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569907100	chr2:142934477-142934478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542708506	chr2:142934540-142934541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs181370340	chr2:142934543-142934544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558742731	chr2:142934572-142934573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs373040072	chr2:142934586-142934587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565818197	chr2:142934614-142934615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534702945	chr2:142934615-142934616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374578059	chr2:142934650-142934651	Enhancers 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	18451855	CNVD

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142923400-142923800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:142923400-142923800	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr2:142923400-142923800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:142923400-142923800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr2:142923400-142923800	Enhancers	Right Atrium	heart
6	chr2:142923600-142923800	Enhancers	GM12878-XiMat	blood
7	chr2:142933600-142935600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:142933800-142934600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr2:142934200-142935200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:142934200-142935200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr2:142934600-142935200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:142934600-142943200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr2:142935200-142943200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr2:142938400-142938800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:142938400-142939000	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr2:142938400-142939200	Active TSS	HepG2	liver
17	chr2:142938600-142938800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr2:142938600-142938800	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr2:142938600-142939000	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr2:142938600-142939000	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr2:142938600-142939000	Active TSS	Brain Hippocampus Middle	brain
22	chr2:142938600-142939000	Enhancers	Pancreas	Pancrea
23	chr2:142938600-142939200	Active TSS	Brain Substantia Nigra	brain
24	chr2:142938800-142943000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr2:142938800-142943400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr2:142939000-142939200	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr2:142939000-142939200	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr2:142939000-142943000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:142939200-142943000	Weak transcription	HepG2	liver
30	chr2:142940200-142948200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:142942200-142943000	Enhancers	HUVEC	blood vessel
32	chr2:142942600-142942800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:142942600-142943400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:142942600-142944000	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr2:142942600-142944600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr2:142942600-142944600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr2:142942600-142944600	Enhancers	Dnd41	blood
38	chr2:142942800-142943400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:142942800-142944000	Enhancers	Primary hematopoietic stem cells	blood
40	chr2:142942800-142944000	Enhancers	Hela-S3	cervix
41	chr2:142943000-142943400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr2:142943000-142943600	Flanking Active TSS	HUVEC	blood vessel
43	chr2:142943000-142943800	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr2:142943000-142944000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:142943000-142944000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:142943000-142944000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:142943000-142944000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:142943000-142944000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr2:142943000-142944000	Enhancers	Adipose Nuclei	Adipose
50	chr2:142943000-142944000	Enhancers	HepG2	liver

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