Variant report

Variant	nsv963733
Chromosome Location	chr2:152042812-152045126
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	CEBPB	chr2:152042718-152042947	A549	lung:	n/a	n/a
2	CEBPB	chr2:152042648-152042868	K562	blood:	n/a	n/a
3	CEBPB	chr2:152042639-152042984	HepG2	liver:	n/a	n/a
4	CEBPB	chr2:152042695-152042948	K562	blood:	n/a	n/a
5	POLR2A	chr2:152045098-152045276	K562	blood:	n/a	n/a
6	POLR2A	chr2:152044783-152044919	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr2:152042818-152044072	K562	blood:	n/a	n/a
8	POLR2A	chr2:152044290-152044511	K562	blood:	n/a	n/a
9	POLR2A	chr2:152044741-152044836	K562	blood:	n/a	n/a
10	YY1	chr2:152042593-152042820	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000236885	TF binding region

Extended variants
information (count: 71 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566521358	chr2:152042835-152042836	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs184210462	chr2:152042856-152042857	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs112428407	chr2:152042867-152042868	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs552176687	chr2:152042887-152042888	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs190268558	chr2:152042890-152042891	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs372580579	chr2:152042908-152042909	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs554850121	chr2:152042991-152042992	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs536152352	chr2:152043026-152043027	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs574547233	chr2:152043041-152043042	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs542217173	chr2:152043057-152043058	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs73970408	chr2:152043066-152043067	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs553987041	chr2:152043084-152043085	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs41407949	chr2:152043097-152043098	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs369784982	chr2:152043102-152043103	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs538868869	chr2:152043130-152043131	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs545822305	chr2:152043154-152043155	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs34276187	chr2:152043161-152043162	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs576372042	chr2:152043168-152043169	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs181920104	chr2:152043183-152043184	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs561998187	chr2:152043187-152043188	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs527890861	chr2:152043189-152043190	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs543226366	chr2:152043190-152043191	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs564721251	chr2:152043214-152043215	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs187372184	chr2:152043222-152043223	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs71902387	chr2:152043306-152043307	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs539133597	chr2:152043325-152043326	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs58606828	chr2:152043330-152043331	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs371702952	chr2:152043331-152043332	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs560013239	chr2:152043347-152043348	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs533276594	chr2:152043362-152043363	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs144402856	chr2:152043379-152043380	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs370106197	chr2:152043386-152043387	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs551456686	chr2:152043398-152043399	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs192092972	chr2:152043460-152043461	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs4665028	chr2:152043480-152043481	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs77808939	chr2:152043481-152043482	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs74721817	chr2:152043501-152043502	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs143411110	chr2:152043532-152043533	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs568309365	chr2:152043563-152043564	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs533768979	chr2:152043564-152043565	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs180802889	chr2:152043578-152043579	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs4665029	chr2:152043588-152043589	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs539537400	chr2:152043612-152043613	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs549081947	chr2:152043614-152043615	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs567966818	chr2:152043670-152043671	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs185421468	chr2:152043713-152043714	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs35027829	chr2:152043727-152043728	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs35036950	chr2:152043782-152043783	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs576030560	chr2:152043783-152043784	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs541783642	chr2:152043784-152043785	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
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
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
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19156171	CNVD
Acute myeloid leukemia	18000384	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152045000-152045400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:152045000-152045800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr2:152045000-152046200	Enhancers	Primary T cells from cord blood	blood
4	chr2:152045000-152046400	Enhancers	Dnd41	blood

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