Variant report

Variant	nsv459518
Chromosome Location	chr2:141218933-141282923
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 976 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:976 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190584092	chr2:141220001-141220002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs116313454	chr2:141220050-141220051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544700952	chr2:141220084-141220085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181695483	chr2:141220099-141220100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs527274998	chr2:141220109-141220110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs78073477	chr2:141220116-141220117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142295333	chr2:141220126-141220127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373706940	chr2:141220159-141220160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529876696	chr2:141220171-141220172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549522160	chr2:141220175-141220176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569010813	chr2:141220183-141220184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs75620851	chr2:141220185-141220186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs11896333	chr2:141220255-141220256	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs551571123	chr2:141220265-141220266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571644662	chr2:141220273-141220274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs80069514	chr2:141220288-141220289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554493168	chr2:141220339-141220340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574344027	chr2:141220464-141220465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536842234	chr2:141220472-141220473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs115849407	chr2:141220483-141220484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576222757	chr2:141220495-141220496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545121553	chr2:141220500-141220501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs367888161	chr2:141220517-141220518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572054041	chr2:141220521-141220522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs151322213	chr2:141220524-141220525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs140633132	chr2:141220527-141220528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529889043	chr2:141220532-141220533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543232475	chr2:141220549-141220550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535927888	chr2:141220591-141220592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529138525	chr2:141220601-141220602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563107480	chr2:141220626-141220627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186088618	chr2:141220646-141220647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551899980	chr2:141220703-141220704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571643797	chr2:141220736-141220737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112876416	chr2:141220757-141220758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150068134	chr2:141220844-141220845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372562188	chr2:141220941-141220942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190412332	chr2:141220942-141220943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182713048	chr2:141220944-141220945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185520854	chr2:141220952-141220953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536912488	chr2:141220979-141220980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556881662	chr2:141220982-141220983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs16844032	chr2:141221000-141221001	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs538853196	chr2:141221003-141221004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572498292	chr2:141221023-141221024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572005175	chr2:141221046-141221047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541021436	chr2:141221069-141221070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190866800	chr2:141221071-141221072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371666200	chr2:141221134-141221135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574406294	chr2:141221158-141221159	Weak transcription	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
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:141220000-141220800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:141220800-141226200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:141222000-141222800	Enhancers	Brain Substantia Nigra	brain
4	chr2:141222200-141222600	Enhancers	Brain Hippocampus Middle	brain
5	chr2:141222600-141223000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:141222600-141223000	Enhancers	Brain Angular Gyrus	brain
7	chr2:141222600-141223200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr2:141222600-141223200	Flanking Active TSS	Brain Hippocampus Middle	brain
9	chr2:141222600-141223200	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr2:141222800-141223200	Flanking Active TSS	Brain Substantia Nigra	brain
11	chr2:141222800-141223400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr2:141223200-141223400	Active TSS	Brain Hippocampus Middle	brain
13	chr2:141223200-141223600	Enhancers	Brain Substantia Nigra	brain
14	chr2:141223200-141226600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr2:141225800-141226200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:141226200-141226800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:141226200-141231800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:141226800-141230600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:141229600-141230800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:141230000-141230800	Enhancers	NHDF-Ad	bronchial
21	chr2:141230600-141232200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:141231000-141231800	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr2:141231000-141232200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr2:141231400-141232000	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr2:141231400-141232200	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr2:141231400-141232400	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr2:141231800-141232000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr2:141231800-141232400	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr2:141231800-141232400	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr2:141232000-141232200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr2:141232400-141234400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr2:141236200-141237800	Enhancers	Fetal Intestine Large	intestine
33	chr2:141237000-141237800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:141237400-141237800	Enhancers	A549	lung
35	chr2:141249400-141250000	Enhancers	Fetal Kidney	kidney
36	chr2:141260400-141260600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:141260400-141260600	Enhancers	Dnd41	blood
38	chr2:141260400-141260600	Enhancers	NH-A	brain
39	chr2:141260400-141260600	Enhancers	Osteobl	bone
40	chr2:141260400-141261000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:141260400-141261200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:141260400-141262000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:141260600-141260800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:141260600-141260800	Flanking Active TSS	Osteobl	bone
45	chr2:141260600-141261000	Enhancers	Hela-S3	cervix
46	chr2:141260600-141261000	Active TSS	NH-A	brain
47	chr2:141260600-141261200	Active TSS	A549	lung
48	chr2:141260600-141261200	Flanking Active TSS	Dnd41	blood
49	chr2:141260800-141261000	Active TSS	Osteobl	bone
50	chr2:141260800-141261200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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