Variant report

Variant	nsv975502
Chromosome Location	chr12:62415399-62416195
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:70)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:70 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:62415698-62415903	A549	lung:	n/a	chr12:62415705-62415716
2	CEBPB	chr12:62415619-62415819	H1-hESC	embryonic stem cell:	n/a	chr12:62415705-62415716
3	CEBPB	chr12:62415578-62415889	HepG2	liver:	n/a	chr12:62415705-62415716
4	CTCF	chr12:62415800-62415950	GM12865	blood:	n/a	n/a
5	CTCF	chr12:62415686-62415926	HepG2	liver:	n/a	n/a
6	CTCF	chr12:62415511-62416090	K562	blood:	n/a	n/a
7	CTCF	chr12:62415720-62415870	GM12873	blood:	n/a	n/a
8	CTCF	chr12:62415530-62416084	MCF-7	breast:	n/a	n/a
9	CTCF	chr12:62415720-62415870	SK-N-SH_RA	brain:	n/a	n/a
10	CTCF	chr12:62415596-62415976	K562	blood:	n/a	n/a
11	CTCF	chr12:62415577-62415976	HepG2	liver:	n/a	n/a
12	CTCF	chr12:62415686-62415949	MCF-7	breast:	n/a	n/a
13	CTCF	chr12:62415599-62415926	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr12:62415760-62415910	MCF-7	breast:	n/a	n/a
15	CTCF	chr12:62415920-62416070	A549	lung:	n/a	n/a
16	CTCF	chr12:62415740-62415890	K562	blood:	n/a	n/a
17	CTCF	chr12:62415720-62415870	Caco-2	colon:	n/a	n/a
18	CTCF	chr12:62415653-62415975	K562	blood:	n/a	n/a
19	CTCF	chr12:62415844-62415899	Fibrobl	skin:	n/a	n/a
20	CTCF	chr12:62415700-62415850	A549	lung:	n/a	n/a
21	CTCF	chr12:62415598-62416146	A549	lung:	n/a	n/a
22	CTCF	chr12:62415740-62415890	MCF-7	breast:	n/a	n/a
23	CTCF	chr12:62415722-62415883	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr12:62415820-62415970	HBMEC	blood vessel:	n/a	n/a
25	CTCF	chr12:62415700-62415850	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr12:62415732-62415911	Gliobla	brain:	n/a	n/a
27	CTCF	chr12:62415720-62415870	HEK293	kidney:	n/a	n/a
28	CTCF	chr12:62415657-62415935	MCF-7	breast:	n/a	n/a
29	CTCF	chr12:62415608-62415977	K562	blood:	n/a	n/a
30	CTCF	chr12:62415676-62415930	A549	lung:	n/a	n/a
31	CTCF	chr12:62415562-62416032	A549	lung:	n/a	n/a
32	CTCF	chr12:62415767-62415890	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr12:62415580-62415730	K562	blood:	n/a	n/a
34	CTCF	chr12:62415729-62415941	K562	blood:	n/a	n/a
35	CTCF	chr12:62415690-62415963	T-47D	breast:	n/a	n/a
36	CTCF	chr12:62415690-62415940	MCF-7	breast:	n/a	n/a
37	CTCF	chr12:62415700-62415850	GM12865	blood:	n/a	n/a
38	CTCF	chr12:62415675-62415919	A549	lung:	n/a	n/a
39	CTCF	chr12:62415840-62415990	BE2_C	brain:	n/a	n/a
40	CTCF	chr12:62415680-62415830	GM12864	blood:	n/a	n/a
41	CTCF	chr12:62415740-62415890	GM12864	blood:	n/a	n/a
42	CTCF	chr12:62415646-62415924	HepG2	liver:	n/a	n/a
43	CTCF	chr12:62415740-62415890	HepG2	liver:	n/a	n/a
44	CTCF	chr12:62415560-62415850	A549	lung:	n/a	n/a
45	CTCF	chr12:62415720-62415870	GM12872	blood:	n/a	n/a
46	CTCF	chr12:62415536-62416069	MCF-7	breast:	n/a	n/a
47	CTCF	chr12:62415700-62415850	SK-N-SH_RA	brain:	n/a	n/a
48	CTCF	chr12:62415672-62415905	MCF-7	breast:	n/a	n/a
49	CTCF	chr12:62415711-62415900	MCF-7	breast:	n/a	n/a
50	CTCF	chr12:62415740-62415890	GM12874	blood:	n/a	n/a

No data

Variant related genes	Relation type
RPS3P6	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181856424	chr12:62415404-62415405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558159582	chr12:62415446-62415447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577033619	chr12:62415458-62415459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186064921	chr12:62415462-62415463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139480077	chr12:62415509-62415510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575551763	chr12:62415523-62415524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189743408	chr12:62415563-62415564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561654014	chr12:62415564-62415565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs17705406	chr12:62415573-62415574	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs149670437	chr12:62415584-62415585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530659335	chr12:62415591-62415592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145497172	chr12:62415592-62415593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs118123548	chr12:62415597-62415598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113058491	chr12:62415599-62415600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182665696	chr12:62415604-62415605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs17125675	chr12:62415647-62415648	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs186456367	chr12:62415674-62415675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191334243	chr12:62415696-62415697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569350557	chr12:62415717-62415718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183576291	chr12:62415763-62415764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200364084	chr12:62415767-62415768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113135163	chr12:62415801-62415802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571619992	chr12:62415808-62415809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187491174	chr12:62415822-62415823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552840433	chr12:62415882-62415883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572838637	chr12:62415902-62415903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs56279780	chr12:62415906-62415907	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs555165873	chr12:62415934-62415935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575217780	chr12:62415955-62415956	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs544302417	chr12:62416002-62416003	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs75386400	chr12:62416059-62416060	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs532936120	chr12:62416097-62416098	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs147627532	chr12:62416115-62416116	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs192689216	chr12:62416149-62416150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529641821	chr12:62416159-62416160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183384917	chr12:62416178-62416179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569449119	chr12:62416188-62416189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Metanephric adenoma	20802469	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD
Man infertility	21397064	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	21346763	CNVD
Schizophrenia	20967226	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62411800-62418200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr12:62412000-62420000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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