Variant report

Variant	esv11145
Chromosome Location	chr12:43152653-43153149
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	chr12:43144917..43147362-chr12:43148881..43152996,3	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562119789	chr12:43152663-43152664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs74837313	chr12:43152701-43152702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547963383	chr12:43152713-43152714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs74999151	chr12:43152740-43152741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533655622	chr12:43152748-43152749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551759007	chr12:43152761-43152762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138642362	chr12:43152773-43152774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149361470	chr12:43152775-43152776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144670337	chr12:43152800-43152801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186358970	chr12:43152836-43152837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs870972	chr12:43152847-43152848	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs553110406	chr12:43152874-43152875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571067993	chr12:43152895-43152896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139640161	chr12:43152911-43152912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556933442	chr12:43152912-43152913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201730573	chr12:43152972-43152973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75547331	chr12:43153014-43153015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11181681	chr12:43153047-43153048	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs191605285	chr12:43153048-43153049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs117335234	chr12:43153064-43153065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541197959	chr12:43153070-43153071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181238807	chr12:43153098-43153099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533330623	chr12:43153100-43153101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551961373	chr12:43153116-43153117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs72518009	chr12:43153134-43153135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35365960	chr12:43153135-43153136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376909951	chr12:43153136-43153137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Acute lymphoblastic leukemia	21390130	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	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
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:43140800-43152800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:43149600-43153800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr12:43149600-43154800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr12:43149600-43156400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:43149800-43153200	Enhancers	H1 Cell Line	embryonic stem cell
6	chr12:43149800-43153600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:43149800-43154000	Enhancers	H9 Cell Line	embryonic stem cell
8	chr12:43149800-43155200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:43149800-43156600	Enhancers	HMEC	breast
10	chr12:43150000-43153800	Enhancers	NHEK	skin
11	chr12:43150200-43154000	Enhancers	Placenta Amnion	Placenta Amnion
12	chr12:43150200-43154400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr12:43150200-43154400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr12:43150200-43155200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:43150400-43154800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:43150600-43152800	Enhancers	HSMMtube	muscle
17	chr12:43150800-43154800	Enhancers	Fetal Lung	lung
18	chr12:43151000-43153400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:43151000-43153400	Enhancers	Brain Germinal Matrix	brain
20	chr12:43151200-43155400	Weak transcription	GM12878-XiMat	blood
21	chr12:43151400-43153000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:43151600-43152800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr12:43151600-43153000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:43151600-43153600	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr12:43151600-43153600	Weak transcription	Hela-S3	cervix
26	chr12:43151800-43152800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr12:43151800-43153200	Weak transcription	A549	lung
28	chr12:43151800-43153400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr12:43151800-43153400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr12:43151800-43153400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr12:43151800-43153600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr12:43151800-43153800	Enhancers	NH-A	brain
33	chr12:43152000-43153400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:43152000-43154600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:43152200-43153200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr12:43152200-43153200	Weak transcription	Fetal Muscle Leg	muscle
37	chr12:43152200-43153200	Weak transcription	Osteobl	bone
38	chr12:43152200-43154200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr12:43152200-43154600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr12:43152200-43155600	Weak transcription	HSMM	muscle
41	chr12:43152400-43152800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr12:43152600-43153400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr12:43152600-43153600	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr12:43152600-43154400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr12:43152600-43154800	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr12:43152800-43153000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr12:43152800-43153000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr12:43152800-43153200	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr12:43152800-43153400	Enhancers	Spleen	Spleen
50	chr12:43152800-43153800	Enhancers	Left Ventricle	heart

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