Variant report

Variant	esv2275783
Chromosome Location	chr12:120428147-120428158
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120313729..120318058-chr12:120425281..120428238,3	K562	blood:
2	chr12:120425404..120428200-chr12:120435927..120438924,2	K562	blood:
3	chr12:120426261..120428229-chr12:120638078..120640091,2	MCF-7	breast:
4	chr12:120424138..120428272-chr12:120728453..120731316,5	K562	blood:
5	chr12:120426493..120428297-chr12:120534910..120538709,3	MCF-7	breast:
6	chr12:120426620..120429059-chr12:120727400..120730169,3	MCF-7	breast:
7	chr12:120427745..120429727-chr12:120729725..120731576,2	MCF-7	breast:
8	chr12:120425209..120429306-chr12:120552934..120555400,5	MCF-7	breast:
9	chr12:120427086..120431307-chr12:120435070..120439124,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000202538	chromatin interactions
ENSG00000089157	chromatin interactions
ENSG00000122966	chromatin interactions
ENSG00000200795	chromatin interactions
ENSG00000135127	chromatin interactions
ENSG00000255857	chromatin interactions
ENSG00000111737	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 71 )

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	rs72058342	chr12:120428147-120428148	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120426200-120428200	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr12:120426200-120428200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:120426200-120428200	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr12:120426200-120428400	Active TSS	Rectal Smooth Muscle	rectum
5	chr12:120426200-120428600	Active TSS	H9 Cell Line	embryonic stem cell
6	chr12:120426200-120429400	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr12:120426400-120428200	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr12:120426400-120428200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
9	chr12:120426400-120428200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr12:120426400-120428200	Active TSS	Primary T killer memory cells from peripheral blood	blood
11	chr12:120426400-120428400	Active TSS	Fetal Kidney	kidney
12	chr12:120426400-120429000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr12:120426400-120429000	Active TSS	Esophagus	oesophagus
14	chr12:120426600-120428200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr12:120426600-120428200	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr12:120426600-120428200	Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr12:120426600-120428200	Active TSS	Fetal Brain Female	brain
18	chr12:120426800-120428200	Active TSS	Brain Anterior Caudate	brain
19	chr12:120426800-120428400	Active TSS	Lung	lung
20	chr12:120427600-120428400	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr12:120427800-120428200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
22	chr12:120427800-120428200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr12:120427800-120428200	Flanking Active TSS	Primary B cells from peripheral blood	blood
24	chr12:120427800-120428200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
25	chr12:120427800-120428200	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
26	chr12:120427800-120428200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
27	chr12:120427800-120428200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr12:120427800-120428200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:120427800-120428200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:120427800-120428200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:120427800-120428200	Flanking Active TSS	Liver	Liver
32	chr12:120427800-120428200	Enhancers	Fetal Heart	heart
33	chr12:120427800-120428200	Flanking Active TSS	Placenta	Placenta
34	chr12:120427800-120428200	Flanking Active TSS	Pancreas	Pancrea
35	chr12:120427800-120428200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
36	chr12:120427800-120428200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
37	chr12:120427800-120428200	Flanking Active TSS	Stomach Smooth Muscle	stomach
38	chr12:120427800-120428200	Flanking Bivalent TSS/Enh	Dnd41	blood
39	chr12:120427800-120428200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
40	chr12:120427800-120428400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
41	chr12:120427800-120428400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:120427800-120428400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
43	chr12:120427800-120428400	Flanking Active TSS	Brain Hippocampus Middle	brain
44	chr12:120427800-120428400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
45	chr12:120427800-120428400	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
46	chr12:120427800-120428400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
47	chr12:120427800-120428600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
48	chr12:120427800-120428600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr12:120427800-120428600	Flanking Active TSS	Brain Cingulate Gyrus	brain
50	chr12:120427800-120428600	Flanking Active TSS	Duodenum Mucosa	Duodenum

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