Variant report

Variant	esv2420328
Chromosome Location	chr12:65037340-65037341
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	chr12:65002607..65004645-chr12:65035889..65038104,2	K562	blood:

Variant related genes	Relation type
ENSG00000256670	chromatin interactions
ENSG00000153179	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 83 )

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	rs199785546	chr12:65037340-65037341	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
Intracranial arachnoid cysts	20187927	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:65019800-65047400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:65021400-65043400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:65021800-65038000	Weak transcription	Ovary	ovary
4	chr12:65022400-65039600	Weak transcription	Osteobl	bone
5	chr12:65025000-65059600	Weak transcription	Thymus	Thymus
6	chr12:65025200-65044000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr12:65026400-65043200	Weak transcription	Fetal Stomach	stomach
8	chr12:65027400-65041800	Weak transcription	Spleen	Spleen
9	chr12:65027800-65047600	Weak transcription	Psoas Muscle	Psoas
10	chr12:65028200-65047400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:65028400-65038600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr12:65028400-65047400	Weak transcription	NHDF-Ad	bronchial
13	chr12:65028400-65047400	Weak transcription	NHLF	lung
14	chr12:65028600-65056400	Weak transcription	NHEK	skin
15	chr12:65029000-65041800	Weak transcription	Left Ventricle	heart
16	chr12:65029200-65039800	Enhancers	Primary T cells fromperipheralblood	blood
17	chr12:65029200-65041000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr12:65029200-65041600	Weak transcription	Fetal Muscle Leg	muscle
19	chr12:65029400-65038000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:65029600-65037600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr12:65029600-65038200	Weak transcription	Right Atrium	heart
22	chr12:65029600-65042600	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr12:65029600-65044000	Weak transcription	Fetal Lung	lung
24	chr12:65031000-65047600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr12:65031200-65040000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:65031200-65043400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr12:65031200-65043600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr12:65031200-65043800	Weak transcription	Fetal Intestine Small	intestine
29	chr12:65031400-65042600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:65031400-65043400	Weak transcription	Small Intestine	intestine
31	chr12:65031600-65038200	Weak transcription	Gastric	stomach
32	chr12:65032200-65040000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr12:65032200-65040600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr12:65032600-65041800	Weak transcription	Fetal Heart	heart
35	chr12:65032800-65038000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr12:65033000-65041800	Weak transcription	Stomach Smooth Muscle	stomach
37	chr12:65033000-65052600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr12:65033400-65043200	Weak transcription	HepG2	liver
39	chr12:65033400-65043400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr12:65033600-65038200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr12:65033600-65059400	Weak transcription	Primary hematopoietic stem cells	blood
42	chr12:65033800-65037600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr12:65033800-65037800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:65033800-65038600	Weak transcription	K562	blood
45	chr12:65033800-65043800	Weak transcription	Duodenum Mucosa	Duodenum
46	chr12:65034000-65042000	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr12:65034000-65043600	Weak transcription	Primary B cells from cord blood	blood
48	chr12:65034200-65037600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr12:65034200-65043600	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr12:65034400-65041000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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