Variant report

Variant	nsv832382
Chromosome Location	chr12:41359550-41489681
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	ARID3A	chr12:41364131-41364529	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:41411864-41412129	HepG2	liver:	n/a	n/a
3	BATF	chr12:41468059-41468293	GM12878	blood:	n/a	n/a
4	BHLHE40	chr12:41411840-41412184	HepG2	liver:	n/a	n/a
5	CEBPB	chr12:41411847-41412147	HepG2	liver:	n/a	chr12:41411994-41412011
6	CEBPB	chr12:41409271-41409506	A549	lung:	n/a	chr12:41409380-41409391 chr12:41409414-41409426 chr12:41409382-41409391 chr12:41409381-41409392
7	CEBPB	chr12:41409295-41409466	K562	blood:	n/a	chr12:41409380-41409391 chr12:41409414-41409426 chr12:41409382-41409391 chr12:41409381-41409392
8	CEBPB	chr12:41379965-41380229	A549	lung:	n/a	n/a
9	CEBPB	chr12:41385978-41386324	HepG2	liver:	n/a	chr12:41386153-41386166 chr12:41386153-41386164
10	CEBPB	chr12:41390064-41390278	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr12:41385987-41386336	K562	blood:	n/a	chr12:41386153-41386166 chr12:41386153-41386164
12	CEBPB	chr12:41409269-41409551	HepG2	liver:	n/a	chr12:41409380-41409391 chr12:41409414-41409426 chr12:41409382-41409391 chr12:41409381-41409392
13	CEBPB	chr12:41385998-41386317	H1-hESC	embryonic stem cell:	n/a	chr12:41386153-41386166 chr12:41386153-41386164
14	CEBPB	chr12:41385981-41386344	IMR90	lung:	n/a	chr12:41386153-41386166 chr12:41386153-41386164
15	CEBPB	chr12:41409260-41409553	IMR90	lung:	n/a	chr12:41409380-41409391 chr12:41409414-41409426 chr12:41409382-41409391 chr12:41409381-41409392
16	CEBPB	chr12:41385974-41386340	A549	lung:	n/a	chr12:41386153-41386166 chr12:41386153-41386164
17	CTCF	chr12:41405847-41406026	A549	lung:	n/a	n/a
18	CTCF	chr12:41364220-41364370	HCFaa	heart:	n/a	chr12:41364310-41364331 chr12:41364308-41364326
19	CTCF	chr12:41364220-41364370	HCT-116	colon:	n/a	chr12:41364310-41364331 chr12:41364308-41364326
20	CTCF	chr12:41360041-41360085	GM13976	blood:	n/a	n/a
21	CTCF	chr12:41364300-41364450	HUVEC	blood vessel:	n/a	chr12:41364310-41364331 chr12:41364308-41364326
22	CTCF	chr12:41405760-41405910	BE2_C	brain:	n/a	n/a
23	CTCF	chr12:41364020-41364170	GM12874	blood:	n/a	n/a
24	CTCF	chr12:41405820-41405970	SAEC	small airway:	n/a	n/a
25	CTCF	chr12:41405778-41406072	IMR90	lung:	n/a	n/a
26	CTCF	chr12:41405825-41406016	HUVEC	blood vessel:	n/a	n/a
27	CTCF	chr12:41405840-41405990	HEEpiC	esophagus:	n/a	n/a
28	CTCF	chr12:41405900-41406050	HepG2	liver:	n/a	n/a
29	CTCF	chr12:41385502-41385543	GM13976	blood:	n/a	n/a
30	CTCF	chr12:41363860-41364010	RPTEC	kidney:	n/a	n/a
31	CTCF	chr12:41487820-41487970	HMEC	breast:	n/a	n/a
32	CTCF	chr12:41405801-41406008	HepG2	liver:	n/a	n/a
33	CTCF	chr12:41461880-41462030	NHEK	skin:	n/a	n/a
34	CTCF	chr12:41364180-41364330	HL-60	blood:	n/a	chr12:41364308-41364326
35	CTCF	chr12:41364140-41364290	HCT-116	colon:	n/a	n/a
36	CTCF	chr12:41364120-41364270	BE2_C	brain:	n/a	n/a
37	CTCF	chr12:41405860-41406010	WERI-Rb-1	eye:	n/a	n/a
38	CTCF	chr12:41405839-41405999	K562	blood:	n/a	n/a
39	CTCF	chr12:41364240-41364390	HRPEpiC	eye:	n/a	chr12:41364310-41364331 chr12:41364308-41364326
40	CTCF	chr12:41405826-41405994	Spleen_OC	spleen:	n/a	n/a
41	CTCF	chr12:41405860-41406010	GM12873	blood:	n/a	n/a
42	CTCF	chr12:41405827-41405983	GM12878	blood:	n/a	n/a
43	CTCF	chr12:41405840-41405990	MCF-7	breast:	n/a	n/a
44	CTCF	chr12:41405780-41405930	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr12:41378200-41378350	GM12878	blood:	n/a	n/a
46	CTCF	chr12:41400206-41400245	MCF-7	breast:	n/a	n/a
47	CTCF	chr12:41385495-41385497	GM13976	blood:	n/a	n/a
48	CTCF	chr12:41405780-41405930	GM12872	blood:	n/a	n/a
49	CTCF	chr12:41405826-41406022	NHEK	skin:	n/a	n/a
50	CTCF	chr12:41405889-41405954	Lung_OC	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:41370320-41370370	HRPEpiC	eye:	n/a
2	chr12:41481088-41481138	PrEC	prostate:	n/a
3	chr12:41370320-41370370	T-47D	breast:	n/a
4	chr12:41481088-41481138	T-47D	breast:	n/a
5	chr12:41481184-41481234	HRCEpiC	kidney:	n/a
6	chr12:41370320-41370370	PFSK-1	brain:	n/a
7	chr12:41481184-41481234	SK-N-SH_RA	brain:	n/a
8	chr12:41481184-41481234	GM12878	blood:	n/a
9	chr12:41481088-41481138	MCF10A-Er-Src	breast:	n/a
10	chr12:41481184-41481234	SK-N-MC	brain:	n/a
11	chr12:41481184-41481234	HUVEC	blood vessel:	n/a
12	chr12:41481184-41481234	HAEpiC	amniotic membrane:	n/a
13	chr12:41370320-41370370	HCT-116	colon:	n/a
14	chr12:41481088-41481138	HL-60	blood:	n/a
15	chr12:41370320-41370370	SK-N-SH	brain:	n/a
16	chr12:41481184-41481234	HepG2	liver:	n/a
17	chr12:41370320-41370370	HEK293	kidney:	embryo
18	chr12:41481184-41481234	HIPEpiC	eye:	n/a
19	chr12:41481088-41481138	ProgFib	skin:	n/a
20	chr12:41481184-41481234	PFSK-1	brain:	n/a
21	chr12:41370320-41370370	RPTEC	kidney:	n/a
22	chr12:41370320-41370370	A549	lung:	n/a
23	chr12:41370320-41370370	BJ	skin:	n/a
24	chr12:41481184-41481234	NT2-D1	testis:	n/a
25	chr12:41481184-41481234	GM12892	blood:	n/a
26	chr12:41481184-41481234	HPAEpiC	pulmonary alveolar:	n/a
27	chr12:41481184-41481234	HNPCEpiC	eye:	n/a
28	chr12:41370320-41370370	Hela-S3	cervix:	n/a
29	chr12:41481184-41481234	GM12891	blood:	n/a
30	chr12:41481088-41481138	Hepatocyte	liver:	n/a
31	chr12:41481184-41481234	GM19239	blood:	n/a
32	chr12:41481088-41481138	HPAEpiC	pulmonary alveolar:	n/a
33	chr12:41370320-41370370	HEEpiC	esophagus:	n/a
34	chr12:41370320-41370370	AG09309	skin:	n/a
35	chr12:41481088-41481138	BJ	skin:	n/a
36	chr12:41370320-41370370	GM19239	blood:	n/a
37	chr12:41370320-41370370	PANC-1	pancreas:	n/a
38	chr12:41481088-41481138	HNPCEpiC	eye:	n/a
39	chr12:41481184-41481234	HCT-116	colon:	n/a
40	chr12:41481184-41481234	GM06990	blood:	n/a
41	chr12:41481184-41481234	ECC-1	luminal epithelium:	n/a
42	chr12:41481184-41481234	Hela-S3	cervix:	n/a
43	chr12:41481088-41481138	ovcar-3	ovarian:	n/a
44	chr12:41370320-41370370	BE2_C	brain:	n/a
45	chr12:41370320-41370370	HNPCEpiC	eye:	n/a
46	chr12:41481088-41481138	SK-N-SH_RA	brain:	n/a
47	chr12:41370320-41370370	HCPEpiC	choroid plexus:	n/a
48	chr12:41481184-41481234	NHDF-neo	bronchial:	n/a
49	chr12:41370320-41370370	HPAEpiC	pulmonary alveolar:	n/a
50	chr12:41481184-41481234	MCF10A-Er-Src	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:41384285..41386457-chr12:41393196..41395790,2	MCF-7	breast:
2	chr12:41449274..41451098-chr12:41453450..41455316,2	K562	blood:
3	chr12:41447343..41449022-chr12:41451324..41453086,2	K562	blood:
4	chr12:41447343..41449022-chr12:41451324..41453086,2	K562	blood:
5	chr12:41350776..41353650-chr12:41357303..41359715,2	K562	blood:
6	chr12:41443017..41445495-chr12:41450238..41452740,2	MCF-7	breast:
7	chr12:41384285..41386457-chr12:41393196..41395790,2	MCF-7	breast:
8	chr12:41449274..41451098-chr12:41453450..41455316,2	K562	blood:
9	chr12:41379403..41382000-chr19:56843629..56845735,2	MCF-7	breast:
10	chr12:41443017..41445495-chr12:41450238..41452740,2	MCF-7	breast:

Variant related genes	Relation type
CNTN1	TF binding region
CNTN1	CpG island

Extended variants
information (count: 4455 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:4455 , 50 per page) page: 1 2 3 4 5 6 7 ... 90

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377550102	chr12:41359560-41359561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187877096	chr12:41359594-41359595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191193099	chr12:41359602-41359603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543040068	chr12:41359616-41359617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12812529	chr12:41359660-41359661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182885491	chr12:41359663-41359664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528968937	chr12:41359759-41359760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs3794247	chr12:41359761-41359762	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs188672469	chr12:41359773-41359774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144355732	chr12:41359775-41359776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200508842	chr12:41359795-41359796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551787270	chr12:41359800-41359801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200154771	chr12:41359801-41359802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570356462	chr12:41359815-41359816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75278247	chr12:41359838-41359839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs57532764	chr12:41359840-41359841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549414513	chr12:41359841-41359842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs199852337	chr12:41359842-41359843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201228537	chr12:41359844-41359845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576609732	chr12:41359845-41359846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs202214878	chr12:41359846-41359847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113366708	chr12:41359890-41359891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148788915	chr12:41359937-41359938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs3794248	chr12:41359944-41359945	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs567743026	chr12:41360026-41360027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539664318	chr12:41360055-41360056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557744094	chr12:41360056-41360057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543645431	chr12:41360158-41360159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552647997	chr12:41360197-41360198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542978708	chr12:41360266-41360267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142444442	chr12:41360311-41360312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184937206	chr12:41360379-41360380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35307142	chr12:41360401-41360402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538413992	chr12:41360453-41360454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540721591	chr12:41360498-41360499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562257044	chr12:41360508-41360509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs151334820	chr12:41360542-41360543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551985772	chr12:41360565-41360566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556711738	chr12:41360633-41360634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140286154	chr12:41360660-41360661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531255819	chr12:41360693-41360694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549350328	chr12:41360696-41360697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567671976	chr12:41360742-41360743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535058046	chr12:41360743-41360744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546775489	chr12:41360746-41360747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1345048	chr12:41360754-41360755	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs556306392	chr12:41360765-41360766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1345049	chr12:41360769-41360770	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs557946370	chr12:41360805-41360806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144248938	chr12:41360815-41360816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:268 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41339000-41365600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:41353200-41373600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:41363400-41363600	Enhancers	Colon Smooth Muscle	Colon
4	chr12:41363400-41363800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr12:41363400-41364000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr12:41363600-41369400	Weak transcription	Colon Smooth Muscle	Colon
7	chr12:41364000-41369600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr12:41365000-41365400	Enhancers	Placenta	Placenta
9	chr12:41365000-41366000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr12:41365600-41366000	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr12:41366000-41369600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr12:41366200-41369600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr12:41369200-41370800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr12:41369400-41370400	Enhancers	Colon Smooth Muscle	Colon
15	chr12:41369400-41370600	Enhancers	Rectal Smooth Muscle	rectum
16	chr12:41369600-41370800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr12:41369600-41370800	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr12:41369600-41370800	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr12:41369800-41370800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:41369800-41371200	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr12:41370000-41370800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr12:41370200-41370600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:41370400-41370800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:41370400-41370800	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr12:41373000-41374600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr12:41373600-41374800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:41373600-41375200	Enhancers	NHEK	skin
28	chr12:41374000-41374400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:41374000-41374400	Enhancers	Muscle Satellite Cultured Cells	--
30	chr12:41374000-41374400	Enhancers	Fetal Brain Male	brain
31	chr12:41374000-41374400	Enhancers	HMEC	breast
32	chr12:41374000-41374600	Enhancers	Brain Germinal Matrix	brain
33	chr12:41374200-41374600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:41374400-41374600	Enhancers	Brain Angular Gyrus	brain
35	chr12:41374600-41374800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr12:41374600-41404800	Weak transcription	Brain Angular Gyrus	brain
37	chr12:41374800-41377400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr12:41374800-41386200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:41377400-41386200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:41378200-41378400	Enhancers	Pancreas	Pancrea
41	chr12:41379400-41380400	Enhancers	A549	lung
42	chr12:41379600-41379800	Enhancers	Colon Smooth Muscle	Colon
43	chr12:41379800-41381200	Weak transcription	Colon Smooth Muscle	Colon
44	chr12:41381200-41383800	Enhancers	Rectal Smooth Muscle	rectum
45	chr12:41381200-41384600	Enhancers	Colon Smooth Muscle	Colon
46	chr12:41381800-41382200	Enhancers	Fetal Stomach	stomach
47	chr12:41381800-41383800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:41382000-41382400	Enhancers	Stomach Smooth Muscle	stomach
49	chr12:41382400-41382800	Weak transcription	Stomach Smooth Muscle	stomach
50	chr12:41382800-41383400	Enhancers	Duodenum Smooth Muscle	Duodenum

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