Variant report

Variant	esv33180
Chromosome Location	chr12:30471617-30478229
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	CTCF	chr12:30476000-30476150	SK-N-SH_RA	brain:	n/a	chr12:30476130-30476146 chr12:30476132-30476145 chr12:30476129-30476147
2	CTCF	chr12:30476156-30476168	GM12878	blood:	n/a	n/a
3	CTCF	chr12:30476110-30476200	LNCaP	prostate:	n/a	chr12:30476130-30476146 chr12:30476132-30476145 chr12:30476129-30476147
4	CTCF	chr12:30476045-30476240	MCF-7	breast:	n/a	chr12:30476130-30476146 chr12:30476132-30476145 chr12:30476129-30476147
5	CTCF	chr12:30476080-30476230	NHDF-neo	bronchial:	n/a	chr12:30476130-30476146 chr12:30476132-30476145 chr12:30476129-30476147
6	CTCF	chr12:30476100-30476250	HMEC	breast:	n/a	chr12:30476130-30476146 chr12:30476132-30476145 chr12:30476234-30476242 chr12:30476129-30476147
7	CTCF	chr12:30476102-30476178	H1-hESC	embryonic stem cell:	n/a	chr12:30476130-30476146 chr12:30476132-30476145 chr12:30476129-30476147
8	CTCF	chr12:30476077-30476166	Medullo	brain:	n/a	chr12:30476130-30476146 chr12:30476132-30476145 chr12:30476129-30476147
9	CTCF	chr12:30476100-30476250	HCPEpiC	choroid plexus:	n/a	chr12:30476130-30476146 chr12:30476132-30476145 chr12:30476234-30476242 chr12:30476129-30476147
10	CTCF	chr12:30476040-30476211	Hela-S3	cervix:	n/a	chr12:30476130-30476146 chr12:30476132-30476145 chr12:30476129-30476147
11	CTCF	chr12:30476000-30476150	Caco-2	colon:	n/a	chr12:30476130-30476146 chr12:30476132-30476145 chr12:30476129-30476147
12	CTCF	chr12:30476100-30476250	HepG2	liver:	n/a	chr12:30476130-30476146 chr12:30476132-30476145 chr12:30476234-30476242 chr12:30476129-30476147
13	CTCF	chr12:30476120-30476270	WERI-Rb-1	eye:	n/a	chr12:30476130-30476146 chr12:30476132-30476145 chr12:30476234-30476242 chr12:30476129-30476147
14	CTCF	chr12:30476060-30476210	AG09309	skin:	n/a	chr12:30476130-30476146 chr12:30476132-30476145 chr12:30476129-30476147
15	CTCF	chr12:30476067-30476221	MCF-7	breast:	n/a	chr12:30476130-30476146 chr12:30476132-30476145 chr12:30476129-30476147
16	CTCF	chr12:30476040-30476190	HCM	heart:	n/a	chr12:30476130-30476146 chr12:30476132-30476145 chr12:30476129-30476147
17	CTCF	chr12:30475980-30476130	HMEC	breast:	n/a	n/a
18	CTCF	chr12:30476060-30476210	BE2_C	brain:	n/a	chr12:30476130-30476146 chr12:30476132-30476145 chr12:30476129-30476147
19	CTCF	chr12:30476008-30476319	MCF-7	breast:	n/a	chr12:30476130-30476146 chr12:30476132-30476145 chr12:30476234-30476242 chr12:30476129-30476147
20	CTCF	chr12:30476080-30476230	HCM	heart:	n/a	chr12:30476130-30476146 chr12:30476132-30476145 chr12:30476129-30476147
21	CTCF	chr12:30476056-30476222	MCF-7	breast:	n/a	chr12:30476130-30476146 chr12:30476132-30476145 chr12:30476129-30476147
22	CTCF	chr12:30476020-30476170	SK-N-SH_RA	brain:	n/a	chr12:30476130-30476146 chr12:30476132-30476145 chr12:30476129-30476147
23	CTCF	chr12:30475979-30476179	A549	lung:	n/a	chr12:30476130-30476146 chr12:30476132-30476145 chr12:30476129-30476147
24	CTCF	chr12:30476093-30476205	GM12878	blood:	n/a	chr12:30476130-30476146 chr12:30476132-30476145 chr12:30476129-30476147
25	CTCF	chr12:30476062-30476206	Fibrobl	skin:	n/a	chr12:30476130-30476146 chr12:30476132-30476145 chr12:30476129-30476147
26	CTCF	chr12:30476100-30476250	MCF-7	breast:	n/a	chr12:30476130-30476146 chr12:30476132-30476145 chr12:30476234-30476242 chr12:30476129-30476147
27	CTCF	chr12:30476060-30476210	AG04450	lung:	n/a	chr12:30476130-30476146 chr12:30476132-30476145 chr12:30476129-30476147
28	CTCF	chr12:30476020-30476170	MCF-7	breast:	n/a	chr12:30476130-30476146 chr12:30476132-30476145 chr12:30476129-30476147
29	CTCF	chr12:30475997-30476388	HCT-116	colon:	n/a	chr12:30476130-30476146 chr12:30476132-30476145 chr12:30476234-30476242 chr12:30476129-30476147
30	CTCF	chr12:30476100-30476250	HEK293	kidney:	n/a	chr12:30476130-30476146 chr12:30476132-30476145 chr12:30476234-30476242 chr12:30476129-30476147
31	CTCF	chr12:30476047-30476222	MCF-7	breast:	n/a	chr12:30476130-30476146 chr12:30476132-30476145 chr12:30476129-30476147
32	CTCF	chr12:30476020-30476232	HepG2	liver:	n/a	chr12:30476130-30476146 chr12:30476132-30476145 chr12:30476129-30476147
33	CTCF	chr12:30476123-30476165	GM12891	blood:	n/a	chr12:30476130-30476146 chr12:30476132-30476145 chr12:30476129-30476147
34	CTCF	chr12:30476060-30476210	HCFaa	heart:	n/a	chr12:30476130-30476146 chr12:30476132-30476145 chr12:30476129-30476147
35	CTCF	chr12:30476020-30476170	HFF	foreskin:	n/a	chr12:30476130-30476146 chr12:30476132-30476145 chr12:30476129-30476147
36	CTCF	chr12:30476040-30476190	GM12875	blood:	n/a	chr12:30476130-30476146 chr12:30476132-30476145 chr12:30476129-30476147
37	CTCF	chr12:30476060-30476210	AG10803	skin:	n/a	chr12:30476130-30476146 chr12:30476132-30476145 chr12:30476129-30476147
38	CTCF	chr12:30476040-30476190	HBMEC	blood vessel:	n/a	chr12:30476130-30476146 chr12:30476132-30476145 chr12:30476129-30476147
39	CTCF	chr12:30476080-30476230	WERI-Rb-1	eye:	n/a	chr12:30476130-30476146 chr12:30476132-30476145 chr12:30476129-30476147
40	CTCF	chr12:30476120-30476270	NHEK	skin:	n/a	chr12:30476130-30476146 chr12:30476132-30476145 chr12:30476234-30476242 chr12:30476129-30476147
41	CTCF	chr12:30476100-30476250	HCT-116	colon:	n/a	chr12:30476130-30476146 chr12:30476132-30476145 chr12:30476234-30476242 chr12:30476129-30476147
42	CTCF	chr12:30476040-30476190	K562	blood:	n/a	chr12:30476130-30476146 chr12:30476132-30476145 chr12:30476129-30476147
43	CTCF	chr12:30476048-30476211	HUVEC	blood vessel:	n/a	chr12:30476130-30476146 chr12:30476132-30476145 chr12:30476129-30476147
44	CTCF	chr12:30476020-30476170	HCT-116	colon:	n/a	chr12:30476130-30476146 chr12:30476132-30476145 chr12:30476129-30476147
45	CTCF	chr12:30476100-30476250	BE2_C	brain:	n/a	chr12:30476130-30476146 chr12:30476132-30476145 chr12:30476234-30476242 chr12:30476129-30476147
46	CTCF	chr12:30475977-30476296	K562	blood:	n/a	chr12:30476130-30476146 chr12:30476132-30476145 chr12:30476234-30476242 chr12:30476129-30476147
47	CTCF	chr12:30476060-30476210	HPF	lung:	n/a	chr12:30476130-30476146 chr12:30476132-30476145 chr12:30476129-30476147
48	CTCF	chr12:30476040-30476190	HVMF	connective:	n/a	chr12:30476130-30476146 chr12:30476132-30476145 chr12:30476129-30476147
49	CTCF	chr12:30476000-30476150	HPAF	blood vessel:	n/a	chr12:30476130-30476146 chr12:30476132-30476145 chr12:30476129-30476147
50	CTCF	chr12:30476080-30476230	HCPEpiC	choroid plexus:	n/a	chr12:30476130-30476146 chr12:30476132-30476145 chr12:30476129-30476147

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TSPAN11-4	chr12:30474054-30474550	ENSG00000257932
2	lnc-TSPAN11-4	chr12:30473767-30473831	ENSG00000257932

Variant related genes	Relation type
ENSG00000257932	TF binding region
MOBP	miRNA target sites
USP33	miRNA target sites

Extended variants
information (count: 190 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:190 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117050743	chr12:30471642-30471643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs78315918	chr12:30471719-30471720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541582169	chr12:30471782-30471783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563143710	chr12:30471815-30471816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114300403	chr12:30471861-30471862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545573820	chr12:30471877-30471878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs367961477	chr12:30471947-30471948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545742695	chr12:30471948-30471949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528055663	chr12:30471963-30471964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145487269	chr12:30471976-30471977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557584333	chr12:30471995-30471996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530427149	chr12:30472046-30472047	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs538832215	chr12:30472086-30472087	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs554196053	chr12:30472098-30472099	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs548753586	chr12:30472138-30472139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374429635	chr12:30472165-30472166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570253875	chr12:30472196-30472197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144282839	chr12:30472222-30472223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537676067	chr12:30472226-30472227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs367670927	chr12:30472234-30472235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552367427	chr12:30472243-30472244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7964943	chr12:30472249-30472250	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs534673201	chr12:30472251-30472252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542920491	chr12:30472264-30472265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148730752	chr12:30472294-30472295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7978437	chr12:30472328-30472329	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs556880525	chr12:30472357-30472358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575083255	chr12:30472369-30472370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546009878	chr12:30472450-30472451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113685624	chr12:30472458-30472459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572911255	chr12:30472486-30472487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369072231	chr12:30472488-30472489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562552761	chr12:30472491-30472492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557285681	chr12:30472533-30472534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1262338	chr12:30472580-30472581	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs529657888	chr12:30472588-30472589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370228538	chr12:30472589-30472590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372234583	chr12:30472592-30472593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11412772	chr12:30472615-30472616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552174149	chr12:30472616-30472617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376645606	chr12:30472624-30472625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142276424	chr12:30472659-30472660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78540821	chr12:30472688-30472689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369005356	chr12:30472717-30472718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552751430	chr12:30472733-30472734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183041747	chr12:30472736-30472737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528587554	chr12:30472774-30472775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541745846	chr12:30472788-30472789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546822792	chr12:30472796-30472797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559951229	chr12:30472864-30472865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
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
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	17133270	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30471400-30476000	Weak transcription	Gastric	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links