Variant report

Variant	nsv559418
Chromosome Location	chr12:75118838-75154272
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	CEBPB	chr12:75126041-75126359	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr12:75150795-75150866	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr12:75118644-75118950	HepG2	liver:	n/a	chr12:75118784-75118793 chr12:75118784-75118793 chr12:75118784-75118793 chr12:75118701-75118712 chr12:75118782-75118795
4	CEBPB	chr12:75126094-75126486	HCT-116	colon:	n/a	n/a
5	CEBPB	chr12:75118639-75119188	ECC-1	luminal epithelium:	n/a	chr12:75118784-75118793 chr12:75118784-75118793 chr12:75118784-75118793 chr12:75118701-75118712 chr12:75118782-75118795
6	CEBPB	chr12:75118638-75118882	H1-hESC	embryonic stem cell:	n/a	chr12:75118784-75118793 chr12:75118784-75118793 chr12:75118784-75118793 chr12:75118701-75118712 chr12:75118782-75118795
7	CEBPB	chr12:75118652-75118932	A549	lung:	n/a	chr12:75118784-75118793 chr12:75118784-75118793 chr12:75118784-75118793 chr12:75118701-75118712 chr12:75118782-75118795
8	CEBPB	chr12:75118635-75118948	IMR90	lung:	n/a	chr12:75118784-75118793 chr12:75118784-75118793 chr12:75118784-75118793 chr12:75118701-75118712 chr12:75118782-75118795
9	CTCF	chr12:75141217-75141336	MCF-7	breast:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
10	CTCF	chr12:75141048-75141809	A549	lung:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
11	CTCF	chr12:75150822-75150838	Kidney_OC	kidney:	n/a	n/a
12	CTCF	chr12:75141113-75141389	GM12878	blood:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
13	CTCF	chr12:75150403-75150469	LNCaP	prostate:	n/a	n/a
14	CTCF	chr12:75141060-75141210	HAc	cerebellar:	n/a	n/a
15	CTCF	chr12:75141200-75141350	HRE	kidney:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
16	CTCF	chr12:75141180-75141330	BJ	skin:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
17	CTCF	chr12:75141060-75141210	HVMF	connective:	n/a	n/a
18	CTCF	chr12:75141047-75141553	MCF-7	breast:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
19	CTCF	chr12:75141180-75141330	HMF	breast:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
20	CTCF	chr12:75141220-75141370	SK-N-SH_RA	brain:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
21	CTCF	chr12:75135061-75135120	MCF-7	breast:	n/a	n/a
22	CTCF	chr12:75141181-75141342	H1-hESC	embryonic stem cell:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
23	CTCF	chr12:75124206-75124288	GM20000	blood:	n/a	n/a
24	CTCF	chr12:75141132-75141517	MCF-7	breast:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
25	CTCF	chr12:75141157-75141383	LNCaP	prostate:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
26	CTCF	chr12:75141179-75141365	Hela-S3	cervix:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
27	CTCF	chr12:75141180-75141330	HCFaa	heart:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
28	CTCF	chr12:75141180-75141330	HCPEpiC	choroid plexus:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
29	CTCF	chr12:75141005-75141535	HCT-116	colon:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
30	CTCF	chr12:75141200-75141350	RPTEC	kidney:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
31	CTCF	chr12:75141180-75141330	AG04449	skin:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
32	CTCF	chr12:75141120-75141270	HPAF	blood vessel:	n/a	n/a
33	CTCF	chr12:75141160-75141310	HA-sp	spinal cord:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
34	CTCF	chr12:75141100-75141250	AG04450	lung:	n/a	n/a
35	CTCF	chr12:75141128-75141403	IMR90	lung:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
36	CTCF	chr12:75141030-75141498	SK-N-SH	brain:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
37	CTCF	chr12:75141200-75141350	HCT-116	colon:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
38	CTCF	chr12:75141180-75141330	AG10803	skin:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
39	CTCF	chr12:75141160-75141310	HMEC	breast:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
40	CTCF	chr12:75141180-75141330	Hela-S3	cervix:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
41	CTCF	chr12:75141180-75141330	MCF-7	breast:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
42	CTCF	chr12:75141200-75141350	HBMEC	blood vessel:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
43	CTCF	chr12:75141180-75141330	AG04450	lung:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
44	CTCF	chr12:75141152-75141376	Medullo	brain:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
45	CTCF	chr12:75141180-75141330	HA-sp	spinal cord:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
46	CTCF	chr12:75141200-75141350	HRPEpiC	eye:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
47	CTCF	chr12:75141200-75141336	Spleen_OC	spleen:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
48	CTCF	chr12:75141118-75141399	A549	lung:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
49	CTCF	chr12:75141160-75141310	HMF	breast:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
50	CTCF	chr12:75141100-75141250	HAc	cerebellar:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:75140910..75141773-chr12:75451603..75452321,3	MCF-7	breast:
2	chr12:75143585..75146196-chr12:75682282..75684719,2	MCF-7	breast:
3	chr12:75140866..75141740-chr12:75683619..75684268,4	MCF-7	breast:
4	chr12:75123651..75124270-chr3:64290669..64291523,2	MCF-7	breast:
5	chr12:75120647..75123375-chr12:75123565..75125151,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNC2-7	chr12:75121818-75122631	NONHSAT029512

Variant related genes	Relation type
ENSG00000257998	TF binding region
ENSG00000257998	chromatin interactions

Extended variants
information (count: 561 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:561 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4882653	chr12:75118838-75118839	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567023898	chr12:75118872-75118873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142843306	chr12:75118873-75118874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs151024590	chr12:75118881-75118882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181301511	chr12:75118885-75118886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs75221612	chr12:75118922-75118923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557969824	chr12:75118930-75118931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs578001955	chr12:75118963-75118964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs77040963	chr12:75118978-75118979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557715893	chr12:75118980-75118981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574407905	chr12:75118982-75118983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186039778	chr12:75119030-75119031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs140996501	chr12:75119038-75119039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs17114150	chr12:75119074-75119075	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs574239600	chr12:75119092-75119093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531801995	chr12:75119147-75119148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541166200	chr12:75119150-75119151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146492114	chr12:75119237-75119238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs75036353	chr12:75119238-75119239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138854131	chr12:75119242-75119243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190960960	chr12:75119259-75119260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs115142695	chr12:75119260-75119261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141366260	chr12:75119262-75119263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182291168	chr12:75119308-75119309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs61932628	chr12:75119343-75119344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs146980525	chr12:75119349-75119350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551885811	chr12:75119380-75119381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571629528	chr12:75119386-75119387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537515584	chr12:75119396-75119397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs76022509	chr12:75119413-75119414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187354822	chr12:75119439-75119440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs553768267	chr12:75119464-75119465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536948374	chr12:75119492-75119493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192357726	chr12:75119502-75119503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182723235	chr12:75119516-75119517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10506688	chr12:75119517-75119518	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs564232433	chr12:75119532-75119533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374776261	chr12:75119576-75119577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577683435	chr12:75119581-75119582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs147766337	chr12:75119600-75119601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs200590906	chr12:75119602-75119603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs201614539	chr12:75119603-75119604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs562949966	chr12:75119614-75119615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs74323761	chr12:75119660-75119661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs528856540	chr12:75119680-75119681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs187404250	chr12:75119697-75119698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs190073490	chr12:75119702-75119703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182703222	chr12:75119705-75119706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528318513	chr12:75119734-75119735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs551308845	chr12:75119761-75119762	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
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
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	17133270	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75117600-75120000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr12:75119000-75119400	Enhancers	Muscle Satellite Cultured Cells	--
3	chr12:75126400-75126600	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr12:75126600-75127000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr12:75127000-75127200	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr12:75127200-75134200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:75134200-75134600	Enhancers	Fetal Heart	heart
8	chr12:75134200-75135800	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr12:75134600-75135000	Weak transcription	Fetal Heart	heart
10	chr12:75135000-75135800	Enhancers	Fetal Heart	heart

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