Variant report

Variant	nsv979006
Chromosome Location	chr2:58477513-58480966
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:57)
CpG islands
(count:305)
Chromatin interactive
region (count:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:57 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:58479128-58479155	ProgFib	skin:	n/a	n/a
2	CTCF	chr2:58478594-58478627	Fibrobl	skin:	n/a	n/a
3	CTCF	chr2:58478835-58478901	Fibrobl	skin:	n/a	n/a
4	GABPA	chr2:58478490-58478928	Hela-S3	cervix:	n/a	n/a
5	GABPA	chr2:58478581-58478828	GM12878	blood:	n/a	n/a
6	GABPA	chr2:58478573-58478901	HepG2	liver:	n/a	n/a
7	HEY1	chr2:58478571-58478992	K562	blood:	n/a	n/a
8	HEY1	chr2:58478565-58478743	K562	blood:	n/a	n/a
9	MAFF	chr2:58479185-58479293	HepG2	liver:	n/a	n/a
10	MAFK	chr2:58479114-58479322	HepG2	liver:	n/a	chr2:58479230-58479245
11	MAFK	chr2:58479094-58479316	HepG2	liver:	n/a	chr2:58479230-58479245
12	MYC	chr2:58478759-58478863	HepG2	liver:	n/a	n/a
13	MYC	chr2:58478687-58478935	MCF-7	breast:	n/a	n/a
14	MYC	chr2:58478724-58478733	HepG2	liver:	n/a	n/a
15	MYC	chr2:58479087-58479159	MCF-7	breast:	n/a	n/a
16	MYC	chr2:58479079-58479251	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr2:58478476-58478891	Gliobla	brain:	n/a	n/a
18	POLR2A	chr2:58479402-58479409	A549	lung:	n/a	n/a
19	POLR2A	chr2:58478926-58479017	GM12878	blood:	n/a	n/a
20	POLR2A	chr2:58478596-58478780	MCF-7	breast:	n/a	n/a
21	POLR2A	chr2:58478552-58478929	GM12892	blood:	n/a	n/a
22	POLR2A	chr2:58478674-58478741	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr2:58478564-58478852	A549	lung:	n/a	n/a
24	POLR2A	chr2:58478558-58478708	K562	blood:	n/a	n/a
25	POLR2A	chr2:58479237-58479253	Gliobla	brain:	n/a	n/a
26	POLR2A	chr2:58478784-58479181	MCF-7	breast:	n/a	n/a
27	POLR2A	chr2:58478861-58478903	GM12878	blood:	n/a	n/a
28	POLR2A	chr2:58478650-58479179	A549	lung:	n/a	n/a
29	POLR2A	chr2:58478763-58478941	MCF-7	breast:	n/a	n/a
30	POLR2A	chr2:58479665-58479691	Gliobla	brain:	n/a	n/a
31	POLR2A	chr2:58478598-58478984	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr2:58478549-58478921	HepG2	liver:	n/a	n/a
33	POLR2A	chr2:58478569-58479002	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr2:58478493-58478791	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr2:58478486-58478887	GM12878	blood:	n/a	n/a
36	POLR2A	chr2:58478699-58478949	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr2:58478507-58478710	HUVEC	blood vessel:	n/a	n/a
38	POLR2A	chr2:58478626-58478748	A549	lung:	n/a	n/a
39	POLR2A	chr2:58478763-58479049	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr2:58479358-58479378	Gliobla	brain:	n/a	n/a
41	POLR2A	chr2:58478596-58478883	GM12878	blood:	n/a	n/a
42	POLR2A	chr2:58478548-58478742	MCF-7	breast:	n/a	n/a
43	POLR2A	chr2:58479299-58479315	Gliobla	brain:	n/a	n/a
44	POLR2A	chr2:58478900-58479018	ProgFib	skin:	n/a	n/a
45	POLR2A	chr2:58478585-58478868	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr2:58478522-58478800	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr2:58478565-58478725	GM12878	blood:	n/a	n/a
48	POLR2A	chr2:58479407-58479645	Gliobla	brain:	n/a	n/a
49	POLR2A	chr2:58478479-58478552	GM12878	blood:	n/a	n/a
50	POLR2A	chr2:58478506-58479271	H1-hESC	embryonic stem cell:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:58479214-58479264	SKMC	muscle:	n/a
2	chr2:58478735-58478785	ProgFib	skin:	n/a
3	chr2:58478331-58478381	RPTEC	kidney:	n/a
4	chr2:58478331-58478381	NH-A	brain:	n/a
5	chr2:58478331-58478381	U87	brain:	n/a
6	chr2:58478696-58478746	AG10803	skin:	n/a
7	chr2:58478744-58478794	SKMC	muscle:	n/a
8	chr2:58479214-58479264	MCF-7	breast:	n/a
9	chr2:58478744-58478794	ProgFib	skin:	n/a
10	chr2:58478735-58478785	AG09319	gingival:	n/a
11	chr2:58478331-58478381	GM06990	blood:	n/a
12	chr2:58478735-58478785	HepG2	liver:	n/a
13	chr2:58479214-58479264	GM19239	blood:	n/a
14	chr2:58478696-58478746	PFSK-1	brain:	n/a
15	chr2:58478744-58478794	Caco-2	colon:	n/a
16	chr2:58478696-58478746	NHBE	bronchial:	n/a
17	chr2:58478696-58478746	GM19239	blood:	n/a
18	chr2:58478735-58478785	HUVEC	blood vessel:	n/a
19	chr2:58478735-58478785	NH-A	brain:	n/a
20	chr2:58478696-58478746	Hela-S3	cervix:	n/a
21	chr2:58478735-58478785	SK-N-SH	brain:	n/a
22	chr2:58478744-58478794	MCF10A-Er-Src	breast:	n/a
23	chr2:58478331-58478381	GM19239	blood:	n/a
24	chr2:58478696-58478746	MCF-7	breast:	n/a
25	chr2:58478744-58478794	SK-N-MC	brain:	n/a
26	chr2:58478744-58478794	AoSMC	blood vessel:	n/a
27	chr2:58478331-58478381	SK-N-SH_RA	brain:	n/a
28	chr2:58479214-58479264	BE2_C	brain:	n/a
29	chr2:58478331-58478381	MCF-7	breast:	n/a
30	chr2:58478744-58478794	SK-N-SH_RA	brain:	n/a
31	chr2:58478735-58478785	AG04450	lung:	fetal
32	chr2:58479214-58479264	HEEpiC	esophagus:	n/a
33	chr2:58478735-58478785	GM12891	blood:	n/a
34	chr2:58478744-58478794	HAEpiC	amniotic membrane:	n/a
35	chr2:58478696-58478746	GM12892	blood:	n/a
36	chr2:58478735-58478785	NHDF-neo	bronchial:	n/a
37	chr2:58479214-58479264	BJ	skin:	n/a
38	chr2:58478696-58478746	HCF	heart:	n/a
39	chr2:58478331-58478381	NB4	blood:	n/a
40	chr2:58479214-58479264	ovcar-3	ovarian:	n/a
41	chr2:58478331-58478381	HEK293	kidney:	embryo
42	chr2:58478744-58478794	U87	brain:	n/a
43	chr2:58478331-58478381	HCT-116	colon:	n/a
44	chr2:58479214-58479264	LNCaP	prostate:	n/a
45	chr2:58478331-58478381	AG04450	lung:	fetal
46	chr2:58478735-58478785	GM19239	blood:	n/a
47	chr2:58478735-58478785	ovcar-3	ovarian:	n/a
48	chr2:58478735-58478785	BE2_C	brain:	n/a
49	chr2:58478331-58478381	AG04449	skin:	fetal
50	chr2:58478744-58478794	HIPEpiC	eye:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:58470992..58473115-chr2:58475772..58478288,2	K562	blood:
2	chr2:58468542..58470119-chr2:58479587..58481216,2	K562	blood:
3	chr2:58465119..58467411-chr2:58475928..58478281,2	K562	blood:
4	chr2:58472143..58474612-chr2:58480304..58482330,2	K562	blood:
5	chr2:58470871..58473115-chr2:58475772..58477795,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FANCL-4	chr2:58478017-58478045	NONHSAT070851
2	lnc-FANCL-4	chr2:58478585-58479810	NONHSAT070851

No data

Variant related genes	Relation type
EIF3FP3	TF binding region
EIF3FP3	CpG island

Extended variants
information (count: 88 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144298992	chr2:58478024-58478025	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs72950813	chr2:58478359-58478360	Inactive region	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs543875968	chr2:58478362-58478363	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs559209532	chr2:58478366-58478367	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs551336453	chr2:58478528-58478529	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs570140064	chr2:58478533-58478534	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs61743850	chr2:58478591-58478592	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs10439485	chr2:58478609-58478610	Inactive region	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs567789839	chr2:58478610-58478611	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs61743844	chr2:58478616-58478617	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs553717494	chr2:58478630-58478631	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs578242634	chr2:58478631-58478632	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs539443369	chr2:58478677-58478678	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs557744857	chr2:58478708-58478709	Inactive region	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs61746304	chr2:58478722-58478723	Inactive region	TF binding region CpG island lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs543200448	chr2:58478759-58478760	Inactive region	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs61746530	chr2:58478774-58478775	Inactive region	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs573789182	chr2:58478775-58478776	Inactive region	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs375715191	chr2:58478787-58478788	Inactive region	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs540795352	chr2:58478788-58478789	Inactive region	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs367791643	chr2:58478808-58478809	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs371355431	chr2:58478812-58478813	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs532750501	chr2:58478843-58478844	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs559245250	chr2:58478847-58478848	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs2230558	chr2:58478870-58478871	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs533015194	chr2:58478883-58478884	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs377407312	chr2:58478891-58478892	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs7329	chr2:58478928-58478929	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs61744607	chr2:58478930-58478931	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs530909962	chr2:58478945-58478946	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs75896350	chr2:58478959-58478960	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs549243136	chr2:58478968-58478969	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs56338219	chr2:58478988-58478989	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs567713985	chr2:58478998-58478999	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs528716546	chr2:58478999-58479000	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs368733194	chr2:58479026-58479027	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs547167122	chr2:58479029-58479030	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs571979539	chr2:58479043-58479044	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs540262748	chr2:58479046-58479047	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs74824951	chr2:58479051-58479052	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs147746373	chr2:58479094-58479095	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs143702544	chr2:58479099-58479100	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs539381199	chr2:58479102-58479103	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs557631523	chr2:58479105-58479106	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs138010082	chr2:58479109-58479110	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs149656011	chr2:58479111-58479112	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs377232344	chr2:58479127-58479128	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs1044212	chr2:58479147-58479148	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs192704884	chr2:58479151-58479152	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs185458034	chr2:58479155-58479156	Inactive region	lncRNA	n/a	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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