Variant report

Variant	esv3324178
Chromosome Location	chr12:12429752-12430095
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:12418860..12420543-chr12:12428119..12430806,2	MCF-7	breast:
2	chr12:12428303..12430629-chr12:12434266..12436457,2	MCF-7	breast:
3	chr12:12428084..12430212-chr12:12436853..12438426,2	K562	blood:

Variant related genes	Relation type
ENSG00000070018	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370350277	chr12:12429769-12429770	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs4763791	chr12:12429804-12429805	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs182336262	chr12:12429818-12429819	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs567094012	chr12:12429849-12429850	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs527885435	chr12:12429850-12429851	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs552502690	chr12:12429868-12429869	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs571283223	chr12:12429870-12429871	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs186998917	chr12:12429889-12429890	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs151258693	chr12:12429953-12429954	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs549513158	chr12:12429961-12429962	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs535879146	chr12:12429969-12429970	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs554838460	chr12:12429979-12429980	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs140450189	chr12:12429986-12429987	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs73275034	chr12:12430020-12430021	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs11054761	chr12:12430036-12430037	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs527529036	chr12:12430078-12430079	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Squamous cell cancer	19607727	CNVD
Prostate cancer	16573809	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Medulloblastoma	21163964	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12421000-12436600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:12426200-12431800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:12426600-12433200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:12426600-12435200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:12426600-12435400	Weak transcription	NHDF-Ad	bronchial
6	chr12:12426800-12431600	Weak transcription	Osteobl	bone

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