Variant report

Variant	nsv979333
Chromosome Location	chr2:58472786-58476569
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	chr2:58473720-58473906	MCF10A-Er-Src	breast:	n/a	n/a
2	JUN	chr2:58473689-58473865	K562	blood:	n/a	n/a
3	JUN	chr2:58475777-58475862	K562	blood:	n/a	n/a
4	MAZ	chr2:58474806-58474997	HepG2	liver:	n/a	n/a
5	POLR2A	chr2:58476198-58476257	ProgFib	skin:	n/a	n/a
6	TCF7L2	chr2:58472854-58473078	PANC-1	pancreas:	n/a	chr2:58473020-58473036 chr2:58473024-58473033 chr2:58473020-58473036 chr2:58473021-58473035 chr2:58473022-58473032 chr2:58473023-58473032

No.	Distal block	Cell Line	Cell type
1	chr2:58470871..58473115-chr2:58475772..58477795,2	K562	blood:
2	chr2:58470992..58473115-chr2:58475772..58478288,2	K562	blood:
3	chr2:58467038..58468702-chr2:58472950..58475674,2	K562	blood:
4	chr2:58470992..58473115-chr2:58475772..58478288,2	K562	blood:
5	chr2:58465119..58467411-chr2:58475928..58478281,2	K562	blood:
6	chr2:58470871..58473115-chr2:58475772..58477795,2	K562	blood:
7	chr2:58466846..58469394-chr2:58473611..58475427,3	MCF-7	breast:
8	chr2:58472143..58474612-chr2:58480304..58482330,2	K562	blood:
9	chr2:58475275..58477327-chr2:58514997..58517275,2	K562	blood:

Variant related genes	Relation type
EIF3FP3	TF binding region
FANCL	TF binding region
ENSG00000273063	chromatin interactions
ENSG00000115392	chromatin interactions

Extended variants
information (count: 105 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555852139	chr2:58472925-58472926	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs114816110	chr2:58472972-58472973	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs577232271	chr2:58473022-58473023	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs548901570	chr2:58473037-58473038	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs371431278	chr2:58473045-58473046	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs559244619	chr2:58473107-58473108	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs532953669	chr2:58473183-58473184	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs199542796	chr2:58473188-58473189	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs551311532	chr2:58473262-58473263	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs568506410	chr2:58473266-58473267	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs141706699	chr2:58473269-58473270	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs35522178	chr2:58473276-58473277	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs530827251	chr2:58473294-58473295	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs186933841	chr2:58473302-58473303	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs150456467	chr2:58473334-58473335	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs138312300	chr2:58473340-58473341	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs547060377	chr2:58473344-58473345	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs191757952	chr2:58473345-58473346	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs531255489	chr2:58473374-58473375	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs58435179	chr2:58473439-58473440	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs544652984	chr2:58473483-58473484	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs182217901	chr2:58473498-58473499	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs112103317	chr2:58473528-58473529	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs187251921	chr2:58473546-58473547	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs369366660	chr2:58473563-58473564	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs573692433	chr2:58473677-58473678	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs540811275	chr2:58473684-58473685	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs190818142	chr2:58473703-58473704	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs148298231	chr2:58473740-58473741	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs544768746	chr2:58473792-58473793	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs563262780	chr2:58473803-58473804	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs530668649	chr2:58473850-58473851	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs541621614	chr2:58473881-58473882	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs182054342	chr2:58473885-58473886	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs575018413	chr2:58473898-58473899	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs35198782	chr2:58473905-58473906	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs561165487	chr2:58473962-58473963	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs368912068	chr2:58473966-58473967	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs79221266	chr2:58474006-58474007	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs554046040	chr2:58474013-58474014	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs559641776	chr2:58474119-58474120	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs571755371	chr2:58474141-58474142	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs72950804	chr2:58474172-58474173	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs551168548	chr2:58474176-58474177	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs569575201	chr2:58474204-58474205	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs536507581	chr2:58474219-58474220	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs112469374	chr2:58474259-58474260	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs185069487	chr2:58474272-58474273	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs17049429	chr2:58474280-58474281	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs190270979	chr2:58474316-58474317	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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