Variant report

Variant	esv3396383
Chromosome Location	chr12:85269883-85270257
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:85268551..85271336-chr12:85421363..85424699,4	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56031839	chr12:85269883-85269884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs10779144	chr12:85269886-85269887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567856588	chr12:85269899-85269900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181716490	chr12:85269901-85269902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2949798	chr12:85269910-85269911	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs142550971	chr12:85269919-85269920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs377329932	chr12:85269937-85269938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2924139	chr12:85269944-85269945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187138002	chr12:85269962-85269963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2949799	chr12:85269965-85269966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573089305	chr12:85270007-85270008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs78530546	chr12:85270010-85270011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs76916705	chr12:85270011-85270012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs76677637	chr12:85270013-85270014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189508613	chr12:85270037-85270038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555521689	chr12:85270094-85270095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78828475	chr12:85270102-85270103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542362572	chr12:85270116-85270117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572477582	chr12:85270141-85270142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530940361	chr12:85270151-85270152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs368342337	chr12:85270171-85270172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181515917	chr12:85270178-85270179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs112016737	chr12:85270183-85270184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186470098	chr12:85270221-85270222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs36021209	chr12:85270228-85270229	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs371846307	chr12:85270251-85270252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
Breast cancer	17899364	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:85250000-85271400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:85251000-85303000	Weak transcription	NHEK	skin
3	chr12:85251800-85285400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:85253800-85271200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:85254000-85276800	Weak transcription	Fetal Brain Male	brain
6	chr12:85254000-85289800	Weak transcription	Brain Angular Gyrus	brain
7	chr12:85254600-85270600	Weak transcription	Brain Substantia Nigra	brain
8	chr12:85254800-85271200	Weak transcription	Brain Hippocampus Middle	brain
9	chr12:85255400-85284200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr12:85267200-85273800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:85267200-85274400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:85268200-85274000	Weak transcription	HMEC	breast
13	chr12:85268200-85274800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:85268600-85273600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:85269200-85271400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:85269200-85289800	Weak transcription	Hela-S3	cervix
17	chr12:85269400-85270600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:85269400-85285800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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