Variant report

Variant	nsv583164
Chromosome Location	chr2:133672853-133674507
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr2:133673346-133673757	GM12878	blood:	n/a	chr2:133673624-133673637 chr2:133673624-133673635 chr2:133673626-133673636 chr2:133673626-133673635
2	POLR2A	chr2:133673706-133674218	H1-neurons	neurons:	n/a	n/a
3	POLR2A	chr2:133673732-133674203	H1-neurons	neurons:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR39-3	chr2:133673130-133673224	ENSG00000233729.1

Variant related genes	Relation type
ENSG00000228721	TF binding region
ENSG00000233729	TF binding region

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

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4953863	chr2:133672853-133672854	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs544218698	chr2:133672860-133672861	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533687275	chr2:133672862-133672863	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77245711	chr2:133672877-133672878	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533027113	chr2:133672934-133672935	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs149931821	chr2:133672941-133672942	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560259455	chr2:133672944-133672945	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs34754965	chr2:133673105-133673106	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs372779437	chr2:133673162-133673163	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs79402061	chr2:133673240-133673241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568124761	chr2:133673242-133673243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188830210	chr2:133673255-133673256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146474734	chr2:133673266-133673267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35046289	chr2:133673319-133673320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192607318	chr2:133673344-133673345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539904052	chr2:133673348-133673349	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs558081480	chr2:133673366-133673367	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs371817377	chr2:133673378-133673379	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs182576478	chr2:133673381-133673382	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs571086609	chr2:133673423-133673424	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs77654384	chr2:133673448-133673449	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs376360743	chr2:133673451-133673452	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs187002236	chr2:133673473-133673474	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs544255831	chr2:133673517-133673518	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs76736281	chr2:133673525-133673526	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs191914721	chr2:133673548-133673549	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs545060710	chr2:133673558-133673559	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs560094193	chr2:133673560-133673561	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs143266854	chr2:133673573-133673574	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs13401736	chr2:133673609-133673610	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs560894568	chr2:133673652-133673653	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs146674150	chr2:133673705-133673706	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs116578835	chr2:133673760-133673761	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs184519188	chr2:133673763-133673764	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs538567968	chr2:133673873-133673874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546766420	chr2:133673874-133673875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551803338	chr2:133673918-133673919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189177106	chr2:133673937-133673938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534443452	chr2:133673995-133673996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs79944228	chr2:133674029-133674030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs193068004	chr2:133674037-133674038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185554006	chr2:133674054-133674055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555908651	chr2:133674064-133674065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535599183	chr2:133674079-133674080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs190477662	chr2:133674100-133674101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs576759278	chr2:133674131-133674132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs544788193	chr2:133674147-133674148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560235037	chr2:133674175-133674176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs571804638	chr2:133674194-133674195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs180683981	chr2:133674196-133674197	Weak transcription Enhancers	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
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	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	16573809	CNVD
Prostate cancer	18632612	CNVD
Developmental delay	21147756	CNVD
Mental retardation	17621639	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21509527	CNVD
Mental retardation	17124404	CNVD
Colorectal cancer	20459617	CNVD
Neuroticism	17667963	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD
Oral cancer	21386901	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133667200-133681600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:133667600-133673000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:133668800-133676400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:133670400-133673400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:133672200-133673600	Enhancers	Fetal Heart	heart
6	chr2:133672600-133673000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:133672600-133674200	Enhancers	Adipose Nuclei	Adipose
8	chr2:133672800-133673000	Enhancers	Lung	lung
9	chr2:133672800-133673200	Enhancers	Fetal Muscle Trunk	muscle
10	chr2:133672800-133673400	Enhancers	Fetal Muscle Leg	muscle
11	chr2:133672800-133673400	Enhancers	Right Atrium	heart
12	chr2:133672800-133674000	Enhancers	Fetal Lung	lung
13	chr2:133672800-133674000	Enhancers	Right Ventricle	heart
14	chr2:133672800-133674400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:133673000-133674200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:133673000-133681000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:133673200-133674000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:133673400-133674000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:133673600-133688800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:133673800-133674000	Enhancers	Lung	lung
21	chr2:133674000-133676400	Weak transcription	Fetal Lung	lung

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