Variant report

Variant	esv2544167
Chromosome Location	chr12:106675607-106675954
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:106641093..106641795-chr12:106675915..106676494,2	MCF-7	breast:
2	chr12:106617980..106623111-chr12:106673260..106676714,5	MCF-7	breast:
3	chr12:106673784..106675625-chr12:106681211..106683347,2	MCF-7	breast:
4	chr12:106671489..106676202-chr12:106750086..106752897,6	MCF-7	breast:
5	chr12:106640861..106643735-chr12:106674267..106678317,3	MCF-7	breast:
6	chr12:106622344..106624016-chr12:106673655..106676594,2	MCF-7	breast:
7	chr12:106626663..106628634-chr12:106673414..106675622,2	MCF-7	breast:
8	chr12:106634944..106646449-chr12:106667585..106679535,27	MCF-7	breast:
9	chr12:106675499..106676420-chr12:106739472..106740272,2	MCF-7	breast:
10	chr12:106625081..106625716-chr12:106675920..106676462,2	MCF-7	breast:

No data

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

Extended variants
information (count: 17 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568549765	chr12:106675634-106675635	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs76531366	chr12:106675635-106675636	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs74460954	chr12:106675647-106675648	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs576989672	chr12:106675659-106675660	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs376169808	chr12:106675672-106675673	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs545576202	chr12:106675702-106675703	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs185348386	chr12:106675719-106675720	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs575900531	chr12:106675756-106675757	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs541437154	chr12:106675795-106675796	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs561390004	chr12:106675805-106675806	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs188631907	chr12:106675812-106675813	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs181374081	chr12:106675828-106675829	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs12366982	chr12:106675868-106675869	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs532613202	chr12:106675898-106675899	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs4964458	chr12:106675904-106675905	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs34547820	chr12:106675944-106675945	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs201585608	chr12:106675945-106675946	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106666200-106680800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr12:106673800-106676600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr12:106674000-106677000	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr12:106674000-106677200	Enhancers	Fetal Heart	heart
5	chr12:106674200-106675800	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr12:106674600-106676800	Enhancers	HepG2	liver
7	chr12:106674800-106676600	Enhancers	Stomach Mucosa	stomach
8	chr12:106675000-106676200	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr12:106675200-106675800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr12:106675200-106676000	Weak transcription	Liver	Liver
11	chr12:106675400-106676000	Weak transcription	NHEK	skin
12	chr12:106675800-106676400	Enhancers	Primary monocytes fromperipheralblood	blood

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