Variant report

Variant	esv1379971
Chromosome Location	chr9:79135846-79135847
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:79118137..79121617-chr9:79133678..79136692,4	MCF-7	breast:
2	chr9:79135787..79137939-chr9:79139543..79141153,2	MCF-7	breast:
3	chr9:79091609..79094063-chr9:79133864..79136159,2	MCF-7	breast:
4	chr9:79112993..79114512-chr9:79134842..79136491,2	MCF-7	breast:
5	chr9:79072653..79077214-chr9:79131036..79138388,12	MCF-7	breast:
6	chr9:79134186..79136452-chr9:79146465..79148525,2	MCF-7	breast:
7	chr9:79134746..79136889-chr9:79256489..79258709,2	MCF-7	breast:
8	chr9:79073735..79076536-chr9:79134165..79136426,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000187210	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 60 )

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	rs71372093	chr9:79135846-79135847	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	20729466	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oral cancer	21386901	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intellectual disability	22102821	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:79093400-79142800	Weak transcription	Fetal Stomach	stomach
2	chr9:79118800-79136400	Weak transcription	Gastric	stomach
3	chr9:79118800-79145800	Weak transcription	Primary B cells from peripheral blood	blood
4	chr9:79120400-79145200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr9:79126400-79140800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr9:79128400-79141000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr9:79129200-79152000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr9:79131000-79136800	Strong transcription	Osteobl	bone
9	chr9:79131600-79141000	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr9:79132200-79142600	Weak transcription	NHDF-Ad	bronchial
11	chr9:79132400-79140800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr9:79132400-79148000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr9:79132800-79136000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr9:79132800-79136400	Weak transcription	Primary B cells from cord blood	blood
15	chr9:79134000-79137600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr9:79134400-79150800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr9:79134600-79136200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr9:79134600-79136800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr9:79134600-79137600	Enhancers	HMEC	breast
20	chr9:79134600-79140600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr9:79134600-79152000	Weak transcription	Pancreas	Pancrea
22	chr9:79134800-79136200	Weak transcription	Stomach Mucosa	stomach
23	chr9:79134800-79140600	Weak transcription	HSMMtube	muscle
24	chr9:79134800-79141000	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr9:79134800-79142800	Weak transcription	Fetal Intestine Small	intestine
26	chr9:79135000-79136200	Weak transcription	NH-A	brain
27	chr9:79135000-79136400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr9:79135800-79136200	Enhancers	HSMM	muscle
29	chr9:79135800-79136800	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr9:79135800-79136800	Enhancers	NHEK	skin
31	chr9:79135800-79137600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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