Variant report

Variant	esv1812235
Chromosome Location	chr12:45892993-45909531
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:45901440..45904259-chr12:45910126..45912673,2	MCF-7	breast:
2	chr12:45894701..45896615-chr12:45915195..45917105,2	MCF-7	breast:
3	chr12:45891586..45893830-chr12:45896863..45899327,2	MCF-7	breast:
4	chr12:45894009..45896602-chr12:46122436..46125409,2	MCF-7	breast:
5	chr12:45891586..45893830-chr12:45896863..45899327,2	MCF-7	breast:
6	chr12:45883877..45886088-chr12:45891473..45895322,3	MCF-7	breast:
7	chr12:45885758..45887965-chr12:45892446..45895121,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SCAF11-7	chr12:45896434-45896493	refGeneNc_2367_NR_026544
2	lnc-SCAF11-7	chr12:45896215-45896314	refGeneNc_2367_NR_026544

No data

Variant related genes	Relation type
ENSG00000189079	chromatin interactions

Extended variants
information (count: 381 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:381 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4576884	chr12:45892993-45892994	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560046390	chr12:45893007-45893008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527551300	chr12:45893038-45893039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs36106137	chr12:45893043-45893044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545606800	chr12:45893116-45893117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564083235	chr12:45893132-45893133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150891175	chr12:45893218-45893219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549655600	chr12:45893255-45893256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568136964	chr12:45893265-45893266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7964616	chr12:45893296-45893297	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs547394406	chr12:45893297-45893298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565522719	chr12:45893321-45893322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73285268	chr12:45893328-45893329	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs190810458	chr12:45893374-45893375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559200295	chr12:45893386-45893387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs71437725	chr12:45893417-45893418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10880798	chr12:45893418-45893419	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs541133353	chr12:45893468-45893469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559354830	chr12:45893477-45893478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569240392	chr12:45893555-45893556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536572131	chr12:45893594-45893595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73285270	chr12:45893626-45893627	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs10880799	chr12:45893671-45893672	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs146172150	chr12:45893779-45893780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139114674	chr12:45893842-45893843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10880800	chr12:45893920-45893921	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs569833857	chr12:45893988-45893989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114664154	chr12:45894057-45894058	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs561658335	chr12:45894072-45894073	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs149944861	chr12:45894076-45894077	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs144152017	chr12:45894111-45894112	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs184005136	chr12:45894127-45894128	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs530874621	chr12:45894130-45894131	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs532956017	chr12:45894147-45894148	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs187329495	chr12:45894249-45894250	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs571111901	chr12:45894270-45894271	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs190928282	chr12:45894277-45894278	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs7954058	chr12:45894313-45894314	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs7968560	chr12:45894314-45894315	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs182637183	chr12:45894321-45894322	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs377689947	chr12:45894328-45894329	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs553751247	chr12:45894330-45894331	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs572152876	chr12:45894337-45894338	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs578181689	chr12:45894353-45894354	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs11183067	chr12:45894373-45894374	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs186864214	chr12:45894464-45894465	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs7971913	chr12:45894521-45894522	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs142164391	chr12:45894594-45894595	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs147833188	chr12:45894605-45894606	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs549467868	chr12:45894606-45894607	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Gastric cancer	18160780	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45892200-45901600	Weak transcription	Pancreas	Pancrea
2	chr12:45895800-45896600	Enhancers	Fetal Lung	lung
3	chr12:45896200-45896800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:45896800-45901600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:45901600-45901800	ZNF genes & repeats	Pancreas	Pancrea
6	chr12:45901600-45902000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:45902000-45903000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:45902800-45903200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:45902800-45903200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr12:45902800-45903400	Enhancers	Primary hematopoietic stem cells	blood
11	chr12:45902800-45903600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr12:45902800-45903600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr12:45902800-45903600	Enhancers	Fetal Thymus	thymus
14	chr12:45902800-45903600	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr12:45903000-45903400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:45903000-45903600	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr12:45903000-45904200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links