Variant report

Variant	nsv945964
Chromosome Location	chr1:56673295-56677420
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	E2F4	chr1:56674084-56674226	MCF10A-Er-Src	breast:	n/a	n/a
2	JUN	chr1:56674430-56674728	K562	blood:	n/a	n/a
3	POLR2A	chr1:56674920-56674962	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000229871	TF binding region

Extended variants
information (count: 143 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534432234	chr1:56673299-56673300	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551503558	chr1:56673319-56673320	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188431201	chr1:56673332-56673333	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181194414	chr1:56673371-56673372	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556959603	chr1:56673426-56673427	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs778415	chr1:56673450-56673451	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs535942766	chr1:56673490-56673491	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555382699	chr1:56673492-56673493	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554200188	chr1:56673529-56673530	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs80047278	chr1:56673543-56673544	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143900541	chr1:56673545-56673546	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540066089	chr1:56673552-56673553	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs3795352	chr1:56673561-56673562	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1236961	chr1:56673585-56673586	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs78441801	chr1:56673597-56673598	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184264645	chr1:56673602-56673603	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146773731	chr1:56673628-56673629	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188942648	chr1:56673643-56673644	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559391044	chr1:56673669-56673670	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528158352	chr1:56673698-56673699	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551200542	chr1:56673732-56673733	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34626744	chr1:56673739-56673740	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570287617	chr1:56673748-56673749	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs56308818	chr1:56673750-56673751	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs61773386	chr1:56673775-56673776	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs72912291	chr1:56673818-56673819	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs151057943	chr1:56673868-56673869	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs141009741	chr1:56673939-56673940	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs371324264	chr1:56673971-56673972	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs555313572	chr1:56673995-56673996	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs572366235	chr1:56674053-56674054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs706377	chr1:56674083-56674084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557949826	chr1:56674116-56674117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs578084506	chr1:56674145-56674146	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs543647313	chr1:56674191-56674192	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs541749404	chr1:56674243-56674244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559482869	chr1:56674275-56674276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs72675597	chr1:56674294-56674295	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs138852108	chr1:56674296-56674297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182016650	chr1:56674370-56674371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186996777	chr1:56674434-56674435	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs192281743	chr1:56674446-56674447	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs564825939	chr1:56674456-56674457	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs530670006	chr1:56674482-56674483	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs182302862	chr1:56674483-56674484	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs368715198	chr1:56674501-56674502	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs567146907	chr1:56674506-56674507	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs529905206	chr1:56674596-56674597	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs142844187	chr1:56674600-56674601	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs147012628	chr1:56674617-56674618	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Meckel-Gruber syndrome	21572526	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	16616336	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	19490664	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56668200-56678000	Weak transcription	Psoas Muscle	Psoas
2	chr1:56673200-56673800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:56673400-56674000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
4	chr1:56673600-56674000	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
5	chr1:56673800-56681400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:56674000-56674800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr1:56674000-56676000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr1:56676000-56676200	Enhancers	Skeletal Muscle Female	skeletal muscle

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