Variant report

Variant	nsv973041
Chromosome Location	chr12:31165065-31168075
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	BHLHE40	chr12:31165039-31165126	K562	blood:	n/a	n/a
2	CEBPB	chr12:31167977-31168208	IMR90	lung:	n/a	n/a
3	CEBPB	chr12:31168040-31168169	A549	lung:	n/a	n/a
4	CTCF	chr12:31164978-31165600	K562	blood:	n/a	chr12:31165385-31165401 chr12:31165224-31165233 chr12:31165386-31165399 chr12:31165384-31165402
5	CTCF	chr12:31165300-31165450	HCM	heart:	n/a	chr12:31165385-31165401 chr12:31165386-31165399 chr12:31165384-31165402
6	CTCF	chr12:31165748-31165751	GM10248	blood:	n/a	n/a
7	CTCF	chr12:31165298-31165438	HepG2	liver:	n/a	chr12:31165385-31165401 chr12:31165386-31165399 chr12:31165384-31165402
8	CTCF	chr12:31165275-31165482	Hela-S3	cervix:	n/a	chr12:31165385-31165401 chr12:31165386-31165399 chr12:31165384-31165402
9	CTCF	chr12:31165340-31165490	GM12867	blood:	n/a	chr12:31165385-31165401 chr12:31165386-31165399 chr12:31165384-31165402
10	CTCF	chr12:31165720-31165870	GM06990	blood:	n/a	n/a
11	CTCF	chr12:31165280-31165430	HUVEC	blood vessel:	n/a	chr12:31165385-31165401 chr12:31165386-31165399 chr12:31165384-31165402
12	CTCF	chr12:31165600-31165750	HVMF	connective:	n/a	n/a
13	CTCF	chr12:31165300-31165450	HCT-116	colon:	n/a	chr12:31165385-31165401 chr12:31165386-31165399 chr12:31165384-31165402
14	CTCF	chr12:31165320-31165470	HFF-Myc	foreskin:	n/a	chr12:31165385-31165401 chr12:31165386-31165399 chr12:31165384-31165402
15	CTCF	chr12:31165300-31165450	K562	blood:	n/a	chr12:31165385-31165401 chr12:31165386-31165399 chr12:31165384-31165402
16	CTCF	chr12:31165280-31165430	GM12869	blood:	n/a	chr12:31165385-31165401 chr12:31165386-31165399 chr12:31165384-31165402
17	CTCF	chr12:31165300-31165450	AG09319	gingival:	n/a	chr12:31165385-31165401 chr12:31165386-31165399 chr12:31165384-31165402
18	CTCF	chr12:31165261-31165432	IMR90	lung:	n/a	chr12:31165385-31165401 chr12:31165386-31165399 chr12:31165384-31165402
19	CTCF	chr12:31165300-31165450	GM12864	blood:	n/a	chr12:31165385-31165401 chr12:31165386-31165399 chr12:31165384-31165402
20	CTCF	chr12:31165260-31165410	HMF	breast:	n/a	chr12:31165385-31165401 chr12:31165386-31165399 chr12:31165384-31165402
21	CTCF	chr12:31165280-31165430	GM12872	blood:	n/a	chr12:31165385-31165401 chr12:31165386-31165399 chr12:31165384-31165402
22	CTCF	chr12:31165260-31165410	HCT-116	colon:	n/a	chr12:31165385-31165401 chr12:31165386-31165399 chr12:31165384-31165402
23	CTCF	chr12:31165300-31165450	Hela-S3	cervix:	n/a	chr12:31165385-31165401 chr12:31165386-31165399 chr12:31165384-31165402
24	CTCF	chr12:31165293-31165474	H1-hESC	embryonic stem cell:	n/a	chr12:31165385-31165401 chr12:31165386-31165399 chr12:31165384-31165402
25	CTCF	chr12:31165560-31165710	AG04450	lung:	n/a	n/a
26	CTCF	chr12:31165225-31165468	A549	lung:	n/a	chr12:31165385-31165401 chr12:31165386-31165399 chr12:31165384-31165402
27	CTCF	chr12:31165300-31165450	AG09309	skin:	n/a	chr12:31165385-31165401 chr12:31165386-31165399 chr12:31165384-31165402
28	CTCF	chr12:31165312-31165519	GM10248	blood:	n/a	chr12:31165385-31165401 chr12:31165386-31165399 chr12:31165384-31165402
29	CTCF	chr12:31165020-31165170	GM12865	blood:	n/a	n/a
30	CTCF	chr12:31166694-31166733	GM10266	blood:	n/a	n/a
31	CTCF	chr12:31165266-31165502	GM19239	blood:	n/a	chr12:31165385-31165401 chr12:31165386-31165399 chr12:31165384-31165402
32	CTCF	chr12:31165300-31165450	NB4	blood:	n/a	chr12:31165385-31165401 chr12:31165386-31165399 chr12:31165384-31165402
33	CTCF	chr12:31165300-31165450	BJ	skin:	n/a	chr12:31165385-31165401 chr12:31165386-31165399 chr12:31165384-31165402
34	CTCF	chr12:31165300-31165450	HRE	kidney:	n/a	chr12:31165385-31165401 chr12:31165386-31165399 chr12:31165384-31165402
35	CTCF	chr12:31165260-31165410	AG04450	lung:	n/a	chr12:31165385-31165401 chr12:31165386-31165399 chr12:31165384-31165402
36	CTCF	chr12:31165314-31165460	LNCaP	prostate:	n/a	chr12:31165385-31165401 chr12:31165386-31165399 chr12:31165384-31165402
37	CTCF	chr12:31165300-31165492	GM12891	blood:	n/a	chr12:31165385-31165401 chr12:31165386-31165399 chr12:31165384-31165402
38	CTCF	chr12:31165280-31165430	HEEpiC	esophagus:	n/a	chr12:31165385-31165401 chr12:31165386-31165399 chr12:31165384-31165402
39	CTCF	chr12:31165312-31165482	Gliobla	brain:	n/a	chr12:31165385-31165401 chr12:31165386-31165399 chr12:31165384-31165402
40	CTCF	chr12:31165263-31165511	A549	lung:	n/a	chr12:31165385-31165401 chr12:31165386-31165399 chr12:31165384-31165402
41	CTCF	chr12:31165246-31165513	MCF-7	breast:	n/a	chr12:31165385-31165401 chr12:31165386-31165399 chr12:31165384-31165402
42	CTCF	chr12:31165300-31165450	HUVEC	blood vessel:	n/a	chr12:31165385-31165401 chr12:31165386-31165399 chr12:31165384-31165402
43	CTCF	chr12:31165320-31165470	GM12870	blood:	n/a	chr12:31165385-31165401 chr12:31165386-31165399 chr12:31165384-31165402
44	CTCF	chr12:31165047-31165198	MCF-7	breast:	n/a	n/a
45	CTCF	chr12:31165303-31165503	GM19240	blood:	n/a	chr12:31165385-31165401 chr12:31165386-31165399 chr12:31165384-31165402
46	CTCF	chr12:31165061-31165126	MCF-7	breast:	n/a	n/a
47	CTCF	chr12:31165315-31165319	GM10266	blood:	n/a	n/a
48	CTCF	chr12:31165239-31165521	MCF-7	breast:	n/a	chr12:31165385-31165401 chr12:31165386-31165399 chr12:31165384-31165402
49	CTCF	chr12:31165320-31165486	GM10266	blood:	n/a	chr12:31165385-31165401 chr12:31165386-31165399 chr12:31165384-31165402
50	CTCF	chr12:31165300-31165450	HPAF	blood vessel:	n/a	chr12:31165385-31165401 chr12:31165386-31165399 chr12:31165384-31165402

Variant related genes	Relation type
ENSG00000256984	TF binding region

Extended variants
information (count: 106 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570745221	chr12:31165077-31165078	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs34941715	chr12:31165126-31165127	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs534843461	chr12:31165153-31165154	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs183870289	chr12:31165186-31165187	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs76266130	chr12:31165211-31165212	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs535204958	chr12:31165212-31165213	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs556968763	chr12:31165302-31165303	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs575155669	chr12:31165340-31165341	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs56048108	chr12:31165381-31165382	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs545357642	chr12:31165424-31165425	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs111936585	chr12:31165437-31165438	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs561258112	chr12:31165441-31165442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188151404	chr12:31165513-31165514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576184659	chr12:31165542-31165543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs180802484	chr12:31165579-31165580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530267688	chr12:31165580-31165581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186517927	chr12:31165653-31165654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563769489	chr12:31165674-31165675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192266336	chr12:31165687-31165688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552585564	chr12:31165688-31165689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368654676	chr12:31165691-31165692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528388773	chr12:31165707-31165708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546872679	chr12:31165732-31165733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369761361	chr12:31165778-31165779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565382179	chr12:31165815-31165816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568162463	chr12:31165816-31165817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75676276	chr12:31165882-31165883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549895936	chr12:31165917-31165918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181875103	chr12:31165934-31165935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539073008	chr12:31166013-31166014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186795272	chr12:31166043-31166044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557328049	chr12:31166045-31166046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191278288	chr12:31166056-31166057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374157747	chr12:31166132-31166133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534988467	chr12:31166252-31166253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553601241	chr12:31166257-31166258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574949367	chr12:31166271-31166272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375365832	chr12:31166345-31166346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542392244	chr12:31166351-31166352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531333658	chr12:31166357-31166358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575803426	chr12:31166358-31166359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149617998	chr12:31166359-31166360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146832172	chr12:31166394-31166395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139324558	chr12:31166442-31166443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546940168	chr12:31166485-31166486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561984881	chr12:31166490-31166491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529112822	chr12:31166518-31166519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs79741266	chr12:31166524-31166525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550731081	chr12:31166530-31166531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142471567	chr12:31166537-31166538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
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
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Follicular lymphoma	18703704	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Ovarian cancer	21720365	CNVD
Sertoli-cell only syndrome	20877625	CNVD
Breast cancer	22522925	CNVD
Autism	21865298	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31147200-31185000	Weak transcription	Right Atrium	heart
2	chr12:31158400-31174600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:31161600-31176400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:31162800-31176200	Weak transcription	Fetal Brain Female	brain
5	chr12:31164000-31165400	Enhancers	Fetal Thymus	thymus
6	chr12:31164600-31170600	Weak transcription	Thymus	Thymus
7	chr12:31165000-31165200	Enhancers	Spleen	Spleen
8	chr12:31165200-31165400	Enhancers	Fetal Muscle Trunk	muscle
9	chr12:31165200-31168200	Weak transcription	Spleen	Spleen
10	chr12:31165400-31168600	Weak transcription	Fetal Thymus	thymus
11	chr12:31165600-31168600	Weak transcription	Fetal Muscle Trunk	muscle

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