Variant report

Variant	nsv818316
Chromosome Location	chr5:12599348-12606091
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	ARID3A	chr5:12605684-12605760	HepG2	liver:	n/a	n/a
2	ATF1	chr5:12599710-12599720	K562	blood:	n/a	n/a
3	CEBPB	chr5:12605701-12606007	Hela-S3	cervix:	n/a	chr5:12605883-12605894 chr5:12605840-12605851
4	CEBPB	chr5:12605752-12606016	HepG2	liver:	n/a	chr5:12605883-12605894 chr5:12605840-12605851
5	CEBPB	chr5:12605701-12606016	A549	lung:	n/a	chr5:12605883-12605894 chr5:12605840-12605851
6	CEBPB	chr5:12605772-12605991	K562	blood:	n/a	chr5:12605883-12605894 chr5:12605840-12605851
7	EP300	chr5:12600151-12600186	GM12878	blood:	n/a	n/a
8	FOS	chr5:12605712-12605996	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr5:12605778-12605908	MCF10A-Er-Src	breast:	n/a	n/a
10	JUND	chr5:12601754-12601891	HepG2	liver:	n/a	n/a
11	POLR2A	chr5:12603275-12603353	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr5:12600264-12600420	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr5:12605727-12606066	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr5:12605414-12605909	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:12588869..12590687-chr5:12605878..12607397,2	K562	blood:

Variant related genes	Relation type
ENSG00000264921	TF binding region

Extended variants
information (count: 280 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:280 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7449177	chr5:12599348-12599349	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs147329824	chr5:12599362-12599363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555863637	chr5:12599376-12599377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140980947	chr5:12599412-12599413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183241687	chr5:12599421-12599422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571041817	chr5:12599454-12599455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144620929	chr5:12599473-12599474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557176964	chr5:12599501-12599502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114004359	chr5:12599551-12599552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562375338	chr5:12599562-12599563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372160931	chr5:12599574-12599575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536562009	chr5:12599575-12599576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs36057617	chr5:12599580-12599581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554923426	chr5:12599602-12599603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573135247	chr5:12599603-12599604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147888566	chr5:12599627-12599628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568181835	chr5:12599632-12599633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565369284	chr5:12599689-12599690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs59962327	chr5:12599693-12599694	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs114932082	chr5:12599694-12599695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188349335	chr5:12599719-12599720	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs150649927	chr5:12599723-12599724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530797657	chr5:12599778-12599779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs58140912	chr5:12599793-12599794	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs139980162	chr5:12599799-12599800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182316780	chr5:12599812-12599813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568649672	chr5:12599840-12599841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528057484	chr5:12599849-12599850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546612619	chr5:12599858-12599859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148504961	chr5:12599862-12599863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554319616	chr5:12599881-12599882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7449308	chr5:12599885-12599886	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs72387963	chr5:12599899-12599900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201861769	chr5:12599900-12599901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199679453	chr5:12599906-12599907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201210170	chr5:12599907-12599908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7446112	chr5:12599908-12599909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373337459	chr5:12599913-12599914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569132731	chr5:12599918-12599919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111438848	chr5:12599924-12599925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554951577	chr5:12599936-12599937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561206521	chr5:12599937-12599938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10866497	chr5:12600022-12600023	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs200183753	chr5:12600045-12600046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200941344	chr5:12600048-12600049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201465404	chr5:12600049-12600050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs59196199	chr5:12600051-12600052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558996515	chr5:12600095-12600096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577371860	chr5:12600146-12600147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544732544	chr5:12600167-12600168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Cervical squamous cell carcinoma	21590768	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD
Non-small cell lung cancer	17643093	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	18940311	CNVD
Central neurocytomas	17123091	CNVD
Mental retardation	17847001	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	19546859	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Williams Syndrome	20824207	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	21346763	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:12598400-12610600	Weak transcription	K562	blood
2	chr5:12602000-12612400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:12602400-12602800	Enhancers	Fetal Brain Male	brain

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