Variant report

Variant	nsv875192
Chromosome Location	chr2:141224542-141268030
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 737 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:737 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1949452	chr2:141224542-141224543	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539334955	chr2:141224549-141224550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555647700	chr2:141224554-141224555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113244763	chr2:141224610-141224611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544498578	chr2:141224619-141224620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142532685	chr2:141224622-141224623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199938644	chr2:141224661-141224662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144863648	chr2:141224671-141224672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141678564	chr2:141224731-141224732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540357335	chr2:141224735-141224736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs79179423	chr2:141224756-141224757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181515325	chr2:141224768-141224769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548954007	chr2:141224780-141224781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs80336081	chr2:141224797-141224798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531600774	chr2:141224818-141224819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186405536	chr2:141224833-141224834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140790794	chr2:141224870-141224871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533747284	chr2:141224872-141224873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79544702	chr2:141224881-141224882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77465215	chr2:141224935-141224936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561430508	chr2:141225015-141225016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564589067	chr2:141225016-141225017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76285735	chr2:141225017-141225018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535457671	chr2:141225018-141225019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75500364	chr2:141225023-141225024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555311451	chr2:141225024-141225025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575861245	chr2:141225032-141225033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376887160	chr2:141225034-141225035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148826303	chr2:141225064-141225065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558145062	chr2:141225096-141225097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75197300	chr2:141225102-141225103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs77229855	chr2:141225130-141225131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78563246	chr2:141225171-141225172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531635168	chr2:141225180-141225181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573752185	chr2:141225185-141225186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12988295	chr2:141225191-141225192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs80111777	chr2:141225192-141225193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs36060070	chr2:141225202-141225203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112910044	chr2:141225204-141225205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191360445	chr2:141225219-141225220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74902972	chr2:141225250-141225251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561470604	chr2:141225265-141225266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551704495	chr2:141225271-141225272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565025615	chr2:141225342-141225343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78793056	chr2:141225347-141225348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142544058	chr2:141225348-141225349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566644273	chr2:141225349-141225350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529311433	chr2:141225406-141225407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144810236	chr2:141225409-141225410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569261676	chr2:141225414-141225415	Weak transcription	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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:141220800-141226200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:141223200-141226600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:141225800-141226200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:141226200-141226800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:141226200-141231800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:141226800-141230600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:141229600-141230800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:141230000-141230800	Enhancers	NHDF-Ad	bronchial
9	chr2:141230600-141232200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:141231000-141231800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr2:141231000-141232200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr2:141231400-141232000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr2:141231400-141232200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr2:141231400-141232400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr2:141231800-141232000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:141231800-141232400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr2:141231800-141232400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr2:141232000-141232200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr2:141232400-141234400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr2:141236200-141237800	Enhancers	Fetal Intestine Large	intestine
21	chr2:141237000-141237800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:141237400-141237800	Enhancers	A549	lung
23	chr2:141249400-141250000	Enhancers	Fetal Kidney	kidney
24	chr2:141260400-141260600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:141260400-141260600	Enhancers	Dnd41	blood
26	chr2:141260400-141260600	Enhancers	NH-A	brain
27	chr2:141260400-141260600	Enhancers	Osteobl	bone
28	chr2:141260400-141261000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:141260400-141261200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:141260400-141262000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:141260600-141260800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:141260600-141260800	Flanking Active TSS	Osteobl	bone
33	chr2:141260600-141261000	Enhancers	Hela-S3	cervix
34	chr2:141260600-141261000	Active TSS	NH-A	brain
35	chr2:141260600-141261200	Active TSS	A549	lung
36	chr2:141260600-141261200	Flanking Active TSS	Dnd41	blood
37	chr2:141260800-141261000	Active TSS	Osteobl	bone
38	chr2:141260800-141261200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:141260800-141261200	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr2:141260800-141261200	Active TSS	HMEC	breast
41	chr2:141261000-141261200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:141261000-141261200	Enhancers	NH-A	brain
43	chr2:141261000-141261200	Flanking Active TSS	Osteobl	bone
44	chr2:141261200-141262000	Enhancers	Dnd41	blood
45	chr2:141261200-141262200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:141261200-141262200	Weak transcription	NH-A	brain
47	chr2:141261200-141264000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:141262000-141264200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:141262200-141262400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:141262200-141262400	Enhancers	NH-A	brain

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