Variant report

Variant	nsv976638
Chromosome Location	chr12:66669568-66672732
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	chr12:66672560-66672710	HPAF	blood vessel:	n/a	n/a
2	CTCF	chr12:66672714-66673429	A549	lung:	n/a	chr12:66673102-66673123 chr12:66673100-66673118
3	RAD21	chr12:66672443-66673495	SK-N-SH	brain:	n/a	chr12:66673101-66673120
4	REST	chr12:66669632-66669882	HL-60	blood:	n/a	chr12:66669731-66669744

No.	Distal block	Cell Line	Cell type
1	chr12:66672595..66673805-chr12:66802877..66803711,5	MCF-7	breast:
2	chr12:66562960..66564544-chr12:66668918..66671534,2	MCF-7	breast:
3	chr12:66561793..66564374-chr12:66672435..66674661,2	MCF-7	breast:

Variant related genes	Relation type
PDCL3P7	TF binding region
ENSG00000155957	chromatin interactions

Extended variants
information (count: 137 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552283288	chr12:66669570-66669571	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs565744371	chr12:66669592-66669593	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs534621179	chr12:66669755-66669756	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs7135616	chr12:66669789-66669790	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs368891445	chr12:66669804-66669805	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs115672388	chr12:66669862-66669863	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs536535914	chr12:66669881-66669882	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs557552421	chr12:66669887-66669888	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs556762758	chr12:66669981-66669982	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs116194385	chr12:66670027-66670028	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs576875982	chr12:66670032-66670033	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs544896191	chr12:66670043-66670044	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs147066445	chr12:66670138-66670139	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs187726746	chr12:66670144-66670145	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs572162912	chr12:66670172-66670173	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs541038481	chr12:66670187-66670188	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs142334152	chr12:66670190-66670191	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs561118489	chr12:66670199-66670200	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs112408559	chr12:66670226-66670227	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs193097632	chr12:66670253-66670254	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs184892171	chr12:66670259-66670260	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs117821284	chr12:66670270-66670271	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs552370558	chr12:66670300-66670301	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs189224080	chr12:66670317-66670318	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs534663361	chr12:66670345-66670346	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs540837966	chr12:66670348-66670349	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs548247667	chr12:66670365-66670366	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs567959704	chr12:66670387-66670388	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs138426007	chr12:66670394-66670395	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs561149853	chr12:66670415-66670416	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs570302801	chr12:66670434-66670435	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs574303065	chr12:66670475-66670476	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs543279503	chr12:66670487-66670488	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs538852318	chr12:66670488-66670489	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs558686208	chr12:66670510-66670511	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs553420462	chr12:66670535-66670536	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs572247639	chr12:66670558-66670559	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs116734298	chr12:66670620-66670621	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs554978749	chr12:66670621-66670622	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs574723964	chr12:66670677-66670678	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs543768259	chr12:66670687-66670688	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs563458396	chr12:66670708-66670709	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs61927123	chr12:66670718-66670719	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs60044916	chr12:66670722-66670723	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs143813779	chr12:66670724-66670725	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs369595619	chr12:66670754-66670755	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs34378329	chr12:66670804-66670805	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs76833061	chr12:66670966-66670967	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs565376962	chr12:66670971-66670972	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs113066738	chr12:66671045-66671046	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
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
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Fibroblasts	20926602	CNVD
Metanephric adenoma	20802469	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21364760	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	22048815	CNVD
Congenital anomalies of the kidney and urinary tract	21113617	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Myxofibrosarcoma	16751306	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Lung cancer	17925434	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66664400-66673000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:66664600-66669800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr12:66664600-66672800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr12:66664600-66672800	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr12:66664600-66673000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:66664800-66669600	Weak transcription	Primary T cells from cord blood	blood
7	chr12:66667600-66672800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:66668800-66670000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr12:66668800-66670000	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr12:66668800-66670400	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr12:66669600-66670200	Enhancers	Primary T cells from cord blood	blood
12	chr12:66669600-66673000	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr12:66669800-66670000	Enhancers	Gastric	stomach
14	chr12:66669800-66670000	Enhancers	GM12878-XiMat	blood
15	chr12:66669800-66670200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr12:66670000-66672600	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr12:66670000-66672800	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr12:66670200-66672800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr12:66670200-66673000	Weak transcription	Primary T cells from cord blood	blood
20	chr12:66670400-66672600	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr12:66672200-66672600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:66672200-66672800	Enhancers	HMEC	breast
23	chr12:66672400-66673000	Enhancers	HUVEC	blood vessel
24	chr12:66672600-66674800	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr12:66672600-66675000	Enhancers	Primary neutrophils fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links