Variant report

Variant	nsv593716
Chromosome Location	chr4:10273329-10274279
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	CTCF	chr4:10273213-10273430	K562	blood:	n/a	n/a
2	CTCF	chr4:10273284-10273382	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:10266886..10269236-chr4:10273082..10275523,2	K562	blood:
2	chr4:10271663..10274322-chr4:10278537..10280895,2	K562	blood:
3	chr4:10271663..10276718-chr4:10277557..10282432,8	K562	blood:

Variant related genes	Relation type
ENSG00000250074	TF binding region

Extended variants
information (count: 57 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10939814	chr4:10273329-10273330	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs563774576	chr4:10273336-10273337	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs144646713	chr4:10273342-10273343	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs548991429	chr4:10273392-10273393	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs137863828	chr4:10273429-10273430	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs531955302	chr4:10273431-10273432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550447720	chr4:10273433-10273434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571803926	chr4:10273439-10273440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538632985	chr4:10273441-10273442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73097533	chr4:10273449-10273450	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs557022146	chr4:10273455-10273456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143420054	chr4:10273467-10273468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs147158606	chr4:10273469-10273470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs117956591	chr4:10273494-10273495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554304095	chr4:10273533-10273534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs113552133	chr4:10273534-10273535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568888891	chr4:10273537-10273538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs10489071	chr4:10273549-10273550	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs140416270	chr4:10273562-10273563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540846477	chr4:10273566-10273567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115585354	chr4:10273634-10273635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142130712	chr4:10273637-10273638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543095994	chr4:10273708-10273709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs370730984	chr4:10273712-10273713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs146481671	chr4:10273718-10273719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370647991	chr4:10273719-10273720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192952966	chr4:10273734-10273735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs531735559	chr4:10273759-10273760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535941731	chr4:10273795-10273796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565590189	chr4:10273797-10273798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182810847	chr4:10273806-10273807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs16895721	chr4:10273836-10273837	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs562419608	chr4:10273858-10273859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs187881580	chr4:10273900-10273901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs150660712	chr4:10273908-10273909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191415854	chr4:10273912-10273913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2192096	chr4:10273926-10273927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs139934273	chr4:10273938-10273939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569609606	chr4:10273942-10273943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554654752	chr4:10273962-10273963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs73097535	chr4:10273985-10273986	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs572910882	chr4:10274012-10274013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185075192	chr4:10274013-10274014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189416948	chr4:10274048-10274049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192282118	chr4:10274061-10274062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574291405	chr4:10274068-10274069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541615757	chr4:10274113-10274114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555058267	chr4:10274121-10274122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576427403	chr4:10274150-10274151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543821202	chr4:10274155-10274156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10262000-10273800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:10267000-10273600	Weak transcription	Fetal Thymus	thymus
3	chr4:10268800-10273600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:10269000-10273800	Weak transcription	HMEC	breast
5	chr4:10269200-10274600	Weak transcription	NHEK	skin
6	chr4:10269400-10274000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr4:10271800-10277600	Weak transcription	K562	blood
8	chr4:10272200-10274000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:10273400-10274600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:10273600-10274400	Enhancers	Thymus	Thymus
11	chr4:10273600-10275200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:10273600-10275200	Enhancers	Fetal Thymus	thymus
13	chr4:10273800-10275000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:10273800-10275200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:10273800-10275400	Enhancers	HMEC	breast
16	chr4:10274000-10274400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:10274000-10274400	Enhancers	HSMM	muscle
18	chr4:10274000-10274600	Enhancers	HSMMtube	muscle
19	chr4:10274000-10274800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:10274000-10275200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:10274200-10274800	Enhancers	Osteobl	bone

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