Variant report

Variant	nsv899300
Chromosome Location	chr12:75121997-75169675
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	chr12:75168732-75168947	A549	lung:	n/a	n/a
2	CEBPB	chr12:75156758-75156986	A549	lung:	n/a	chr12:75156857-75156870 chr12:75156859-75156868 chr12:75156857-75156868 chr12:75156859-75156868 chr12:75156859-75156868 chr12:75156858-75156869 chr12:75156859-75156868 chr12:75156857-75156870 chr12:75156857-75156870
3	CEBPB	chr12:75156716-75156999	HepG2	liver:	n/a	chr12:75156857-75156870 chr12:75156859-75156868 chr12:75156857-75156868 chr12:75156859-75156868 chr12:75156859-75156868 chr12:75156858-75156869 chr12:75156859-75156868 chr12:75156857-75156870 chr12:75156857-75156870
4	CEBPB	chr12:75150795-75150866	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr12:75126094-75126486	HCT-116	colon:	n/a	n/a
6	CEBPB	chr12:75156761-75157040	IMR90	lung:	n/a	chr12:75156857-75156870 chr12:75156859-75156868 chr12:75156857-75156868 chr12:75156859-75156868 chr12:75156859-75156868 chr12:75156858-75156869 chr12:75156859-75156868 chr12:75156857-75156870 chr12:75156857-75156870
7	CEBPB	chr12:75126041-75126359	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr12:75141220-75141370	A549	lung:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
9	CTCF	chr12:75141200-75141350	HPAF	blood vessel:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
10	CTCF	chr12:75141160-75141310	HMF	breast:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
11	CTCF	chr12:75141157-75141383	LNCaP	prostate:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
12	CTCF	chr12:75135061-75135120	MCF-7	breast:	n/a	n/a
13	CTCF	chr12:75141132-75141517	MCF-7	breast:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
14	CTCF	chr12:75141005-75141535	HCT-116	colon:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
15	CTCF	chr12:75141179-75141365	Hela-S3	cervix:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
16	CTCF	chr12:75141200-75141350	HRPEpiC	eye:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
17	CTCF	chr12:75141120-75141270	HPAF	blood vessel:	n/a	n/a
18	CTCF	chr12:75141200-75141350	HBMEC	blood vessel:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
19	CTCF	chr12:75141048-75141809	A549	lung:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
20	CTCF	chr12:75141180-75141330	HA-sp	spinal cord:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
21	CTCF	chr12:75141200-75141350	HRE	kidney:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
22	CTCF	chr12:75141047-75141553	MCF-7	breast:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
23	CTCF	chr12:75141180-75141330	BJ	skin:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
24	CTCF	chr12:75141140-75141290	Caco-2	colon:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
25	CTCF	chr12:75141180-75141330	HCFaa	heart:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
26	CTCF	chr12:75141180-75141330	AG10803	skin:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
27	CTCF	chr12:75141200-75141336	Spleen_OC	spleen:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
28	CTCF	chr12:75141201-75141359	MCF-7	breast:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
29	CTCF	chr12:75141060-75141210	HAc	cerebellar:	n/a	n/a
30	CTCF	chr12:75141185-75141388	LNCaP	prostate:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
31	CTCF	chr12:75141180-75141330	Hela-S3	cervix:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
32	CTCF	chr12:75141220-75141370	SK-N-SH_RA	brain:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
33	CTCF	chr12:75141200-75141350	RPTEC	kidney:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
34	CTCF	chr12:75150403-75150469	LNCaP	prostate:	n/a	n/a
35	CTCF	chr12:75141240-75141390	HPF	lung:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
36	CTCF	chr12:75141180-75141330	MCF-7	breast:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
37	CTCF	chr12:75141113-75141389	GM12878	blood:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
38	CTCF	chr12:75141225-75141315	HepG2	liver:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
39	CTCF	chr12:75141200-75141350	MCF-7	breast:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
40	CTCF	chr12:75141100-75141250	HAc	cerebellar:	n/a	n/a
41	CTCF	chr12:75141180-75141330	AG04449	skin:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
42	CTCF	chr12:75150822-75150838	Kidney_OC	kidney:	n/a	n/a
43	CTCF	chr12:75141118-75141399	A549	lung:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
44	CTCF	chr12:75141220-75141370	HRE	kidney:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
45	CTCF	chr12:75141160-75141310	HA-sp	spinal cord:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
46	CTCF	chr12:75141200-75141350	HCPEpiC	choroid plexus:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
47	CTCF	chr12:75141220-75141370	HEEpiC	esophagus:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
48	CTCF	chr12:75141180-75141330	HCPEpiC	choroid plexus:	n/a	chr12:75141267-75141285 chr12:75141268-75141284
49	CTCF	chr12:75141060-75141210	HVMF	connective:	n/a	n/a
50	CTCF	chr12:75150391-75150394	LNCaP	prostate:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:75140866..75141740-chr12:75683619..75684268,4	MCF-7	breast:
2	chr12:75123651..75124270-chr3:64290669..64291523,2	MCF-7	breast:
3	chr12:75140910..75141773-chr12:75451603..75452321,3	MCF-7	breast:
4	chr12:75160845..75163008-chr12:75163683..75165464,2	MCF-7	breast:
5	chr12:75143585..75146196-chr12:75682282..75684719,2	MCF-7	breast:
6	chr12:75160845..75163008-chr12:75163683..75165464,2	MCF-7	breast:
7	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: 566 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:566 , 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	rs17114156	chr12:75121997-75121998	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs577284875	chr12:75122004-75122005	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs545852698	chr12:75122009-75122010	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs141640220	chr12:75122016-75122017	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs531594234	chr12:75122072-75122073	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs548511909	chr12:75122104-75122105	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs562389235	chr12:75122105-75122106	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs7132280	chr12:75122124-75122125	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs547990521	chr12:75122127-75122128	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs570921200	chr12:75122236-75122237	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs538745110	chr12:75122266-75122267	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs146983902	chr12:75122288-75122289	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs12302658	chr12:75122316-75122317	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs569453409	chr12:75122340-75122341	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs73361626	chr12:75122345-75122346	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs140891178	chr12:75122393-75122394	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs79993901	chr12:75122407-75122408	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs190617902	chr12:75122414-75122415	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs17789260	chr12:75122415-75122416	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs74843731	chr12:75122431-75122432	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs533932063	chr12:75122466-75122467	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs371611949	chr12:75122493-75122494	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs563792964	chr12:75122524-75122525	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs150159414	chr12:75122533-75122534	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs553790289	chr12:75122548-75122549	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs556229896	chr12:75122562-75122563	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs138632736	chr12:75122589-75122590	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs541798043	chr12:75122608-75122609	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs183220516	chr12:75122611-75122612	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs534097515	chr12:75122950-75122951	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs562516489	chr12:75122968-75122969	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs553779437	chr12:75123050-75123051	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs570665434	chr12:75123148-75123149	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs370035660	chr12:75123179-75123180	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs539232859	chr12:75123204-75123205	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs556265052	chr12:75123217-75123218	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs576149377	chr12:75123253-75123254	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs541883927	chr12:75123257-75123258	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs113485813	chr12:75123284-75123285	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs145232125	chr12:75123312-75123313	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs547704410	chr12:75123571-75123572	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs79953532	chr12:75123573-75123574	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs182348538	chr12:75123591-75123592	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs555954803	chr12:75123600-75123601	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs76578218	chr12:75123615-75123616	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs561897634	chr12:75123629-75123630	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs115287088	chr12:75123642-75123643	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs112118559	chr12:75123702-75123703	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs80000546	chr12:75123703-75123704	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs144792338	chr12:75123730-75123731	Inactive region	Chromatin interactive region	1 gene(s)	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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75126400-75126600	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr12:75126600-75127000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr12:75127000-75127200	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr12:75127200-75134200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr12:75134200-75134600	Enhancers	Fetal Heart	heart
6	chr12:75134200-75135800	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr12:75134600-75135000	Weak transcription	Fetal Heart	heart
8	chr12:75135000-75135800	Enhancers	Fetal Heart	heart
9	chr12:75155200-75155400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:75155400-75156400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:75156400-75156800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:75168600-75168800	Enhancers	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links