Variant report

Variant	esv1302597
Chromosome Location	chr12:63139617-63139621
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	chr12:63131148..63134092-chr12:63139038..63140711,2	K562	blood:
2	chr12:62996091..62998730-chr12:63137712..63141032,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221949	chromatin interactions
ENSG00000257354	chromatin interactions
ENSG00000199179	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 78 )

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	rs574958649	chr12:63139618-63139619	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Breast cancer	21364760	CNVD
Man infertility	21397064	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63096600-63157000	Weak transcription	Pancreas	Pancrea
2	chr12:63123000-63152000	Weak transcription	Gastric	stomach
3	chr12:63124200-63145400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:63125800-63143000	Weak transcription	Psoas Muscle	Psoas
5	chr12:63126000-63149200	Weak transcription	Lung	lung
6	chr12:63126200-63155600	Weak transcription	Aorta	Aorta
7	chr12:63130200-63153200	Weak transcription	Fetal Intestine Large	intestine
8	chr12:63131400-63148000	Weak transcription	Fetal Intestine Small	intestine
9	chr12:63132600-63140600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:63132600-63145400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr12:63133600-63144800	Weak transcription	Brain Anterior Caudate	brain
12	chr12:63133800-63143000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:63134200-63145000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr12:63134200-63150600	Weak transcription	Right Atrium	heart
15	chr12:63134400-63141400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:63134400-63144600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr12:63134400-63160600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:63135000-63142200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:63135600-63145000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:63136000-63142600	Weak transcription	Brain Angular Gyrus	brain
21	chr12:63136000-63145000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:63136400-63144600	Weak transcription	Brain Substantia Nigra	brain
23	chr12:63137400-63139800	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr12:63137800-63140400	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr12:63138200-63139800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:63138200-63139800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr12:63138200-63140200	Enhancers	GM12878-XiMat	blood
28	chr12:63138400-63139800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:63138400-63139800	Enhancers	A549	lung
30	chr12:63138400-63140000	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr12:63138400-63140000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:63138600-63139800	Enhancers	Fetal Thymus	thymus
33	chr12:63138600-63139800	Enhancers	HSMM	muscle
34	chr12:63138600-63141800	Strong transcription	HepG2	liver
35	chr12:63138800-63140200	Weak transcription	Esophagus	oesophagus
36	chr12:63138800-63142400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr12:63138800-63149200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr12:63139000-63139800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr12:63139000-63140600	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr12:63139000-63144600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr12:63139000-63144800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:63139400-63140000	Enhancers	Primary hematopoietic stem cells	blood
43	chr12:63139400-63140200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr12:63139400-63140800	Weak transcription	NHLF	lung
45	chr12:63139400-63141800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr12:63139400-63150400	Weak transcription	Left Ventricle	heart
47	chr12:63139600-63139800	Weak transcription	Thymus	Thymus
48	chr12:63139600-63142200	Weak transcription	Osteobl	bone
49	chr12:63139600-63142400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr12:63139600-63142600	Weak transcription	HSMMtube	muscle

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