Variant report

Variant	esv2628888
Chromosome Location	chr12:64251041-64251041
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	chr12:64238158..64239661-chr12:64250605..64253293,2	MCF-7	breast:
2	chr12:64243148..64249002-chr12:64249405..64253780,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196935	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 80 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143740880	chr12:64251041-64251042	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Metanephric adenoma	20802469	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64240800-64256000	Weak transcription	Small Intestine	intestine
2	chr12:64241000-64251800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:64241000-64255600	Weak transcription	Left Ventricle	heart
4	chr12:64241000-64256000	Weak transcription	Fetal Muscle Leg	muscle
5	chr12:64241000-64256000	Weak transcription	HSMM	muscle
6	chr12:64241000-64257200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:64241000-64261200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr12:64241000-64268800	Weak transcription	Lung	lung
9	chr12:64241000-64278800	Weak transcription	Fetal Stomach	stomach
10	chr12:64243000-64251200	Weak transcription	NHLF	lung
11	chr12:64243400-64263000	Weak transcription	NHEK	skin
12	chr12:64243600-64256200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:64243800-64251400	Weak transcription	Osteobl	bone
14	chr12:64244000-64251600	Weak transcription	HMEC	breast
15	chr12:64244000-64256000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr12:64244000-64263600	Weak transcription	Fetal Lung	lung
17	chr12:64244200-64251400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:64244200-64251600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr12:64244400-64251200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:64244400-64256000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:64244600-64251200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr12:64244800-64255800	Weak transcription	Brain Anterior Caudate	brain
23	chr12:64246200-64254600	Weak transcription	Pancreas	Pancrea
24	chr12:64246200-64286400	Weak transcription	Fetal Brain Female	brain
25	chr12:64246400-64253400	Weak transcription	Brain Germinal Matrix	brain
26	chr12:64246400-64256000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:64246400-64256200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr12:64247600-64251600	Weak transcription	HepG2	liver
29	chr12:64247600-64255200	Weak transcription	Ovary	ovary
30	chr12:64247800-64251600	Weak transcription	Fetal Intestine Small	intestine
31	chr12:64247800-64257400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr12:64247800-64268200	Weak transcription	Fetal Brain Male	brain
33	chr12:64248000-64251400	Weak transcription	Fetal Intestine Large	intestine
34	chr12:64248000-64256000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr12:64248000-64256200	Weak transcription	Fetal Kidney	kidney
36	chr12:64248200-64253800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:64248800-64255200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr12:64249200-64256200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:64249600-64252000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr12:64250200-64251200	Enhancers	A549	lung
41	chr12:64250200-64287200	Weak transcription	Aorta	Aorta
42	chr12:64250400-64252400	Enhancers	Hela-S3	cervix
43	chr12:64250800-64251600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr12:64250800-64251600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:64250800-64254400	Weak transcription	NHDF-Ad	bronchial
46	chr12:64250800-64256000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:64251000-64251400	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr12:64251000-64255200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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