Variant report

Variant	esv3492397
Chromosome Location	chr12:106670621-106671491
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:106671489..106676202-chr12:106750086..106752897,6	MCF-7	breast:
2	chr12:106634944..106646449-chr12:106667585..106679535,27	MCF-7	breast:
3	chr12:106649519..106651023-chr12:106669984..106671532,2	MCF-7	breast:
4	chr12:106664388..106667969-chr12:106668032..106670678,3	MCF-7	breast:
5	chr12:106665603..106667628-chr12:106671305..106673518,2	K562	blood:

Variant related genes	Relation type
ENSG00000258355	chromatin interactions
ENSG00000136026	chromatin interactions
ENSG00000013503	chromatin interactions

Extended variants
information (count: 39 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11112924	chr12:106670636-106670637	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs181509074	chr12:106670675-106670676	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs556414049	chr12:106670687-106670688	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs186458853	chr12:106670691-106670692	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs555100489	chr12:106670693-106670694	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs572012630	chr12:106670736-106670737	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs373315697	chr12:106670760-106670761	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs190886984	chr12:106670768-106670769	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs35721416	chr12:106670832-106670833	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs182320471	chr12:106670876-106670877	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs369982868	chr12:106670884-106670885	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs75059063	chr12:106670891-106670892	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs186287926	chr12:106670909-106670910	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs10861568	chr12:106670913-106670914	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs541567072	chr12:106670928-106670929	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs191208115	chr12:106670971-106670972	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs10778460	chr12:106670973-106670974	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs182986103	chr12:106671056-106671057	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs188783963	chr12:106671094-106671095	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs564775800	chr12:106671157-106671158	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs141763962	chr12:106671164-106671165	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs550111592	chr12:106671185-106671186	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs192951396	chr12:106671194-106671195	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs569824037	chr12:106671206-106671207	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs527339843	chr12:106671229-106671230	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs545369695	chr12:106671262-106671263	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs183137342	chr12:106671272-106671273	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs549062755	chr12:106671280-106671281	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs114853451	chr12:106671288-106671289	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs12146853	chr12:106671337-106671338	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs534800972	chr12:106671370-106671371	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs557795424	chr12:106671383-106671384	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs529587879	chr12:106671384-106671385	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs547118707	chr12:106671408-106671409	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs577842728	chr12:106671434-106671435	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs536664411	chr12:106671440-106671441	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs188019603	chr12:106671459-106671460	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs532691772	chr12:106671468-106671469	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs145658834	chr12:106671470-106671471	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	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
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106665800-106670800	Weak transcription	Fetal Heart	heart
2	chr12:106666200-106680800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:106668400-106671000	Enhancers	Esophagus	oesophagus
4	chr12:106668800-106670800	Enhancers	Primary B cells from peripheral blood	blood
5	chr12:106669400-106670800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:106669400-106670800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr12:106669600-106670800	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr12:106669600-106670800	Weak transcription	Stomach Mucosa	stomach
9	chr12:106669600-106671200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr12:106669600-106671800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr12:106669600-106672800	Weak transcription	Liver	Liver
12	chr12:106669600-106673800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr12:106670200-106671200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:106670200-106671400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:106670200-106671400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr12:106670400-106670800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:106670400-106673000	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr12:106670400-106673200	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr12:106670600-106671000	Enhancers	GM12878-XiMat	blood
20	chr12:106670600-106671000	Enhancers	NHEK	skin
21	chr12:106670800-106671000	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr12:106670800-106671200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:106670800-106671400	Enhancers	Stomach Mucosa	stomach
24	chr12:106670800-106671800	Enhancers	Fetal Heart	heart
25	chr12:106670800-106672800	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr12:106671200-106673200	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr12:106671400-106672000	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr12:106671400-106674800	Weak transcription	Stomach Mucosa	stomach

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