Variant report

Variant	esv2170188
Chromosome Location	chr9:71734426-71734428
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:71734248-71738260	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:71732215..71735155-chr9:71735593..71737924,2	MCF-7	breast:
2	chr9:71720044..71724145-chr9:71733178..71738087,7	MCF-7	breast:
3	chr9:71734142..71739001-chr9:71788032..71795507,11	MCF-7	breast:
4	chr9:71680609..71683537-chr9:71732525..71735089,2	MCF-7	breast:
5	chr9:71733168..71738729-chr9:71786929..71793777,10	MCF-7	breast:
6	chr9:71733939..71735989-chr9:71814942..71816605,2	MCF-7	breast:

No data

Variant related genes	Relation type
TJP2	TF binding region
ENSG00000270236	chromatin interactions
ENSG00000119139	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 57 )

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	rs144987993	chr9:71734426-71734427	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Melanoma	22183965	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
Breast cancer	17899364	CNVD
Mantle cell lymphoma	19029149	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
Epilepsy	22083797	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71701800-71735200	Weak transcription	Primary T cells from cord blood	blood
2	chr9:71712600-71735200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr9:71715000-71735000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr9:71720400-71735600	Weak transcription	Left Ventricle	heart
5	chr9:71720600-71735000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr9:71721400-71734600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr9:71727200-71735800	Weak transcription	Brain Substantia Nigra	brain
8	chr9:71729800-71745600	Weak transcription	K562	blood
9	chr9:71730600-71734800	Weak transcription	Fetal Muscle Leg	muscle
10	chr9:71730600-71736000	Weak transcription	NHDF-Ad	bronchial
11	chr9:71731000-71734600	Weak transcription	Stomach Mucosa	stomach
12	chr9:71731000-71735400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr9:71731000-71736000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr9:71731000-71736000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr9:71731200-71735400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr9:71733600-71734600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr9:71733600-71735000	Enhancers	Placenta	Placenta
18	chr9:71733800-71734600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr9:71733800-71735000	Enhancers	H1 Cell Line	embryonic stem cell
20	chr9:71734000-71735000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr9:71734000-71735000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr9:71734400-71734600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr9:71734400-71734600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr9:71734400-71734600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr9:71734400-71735000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr9:71734400-71735000	Enhancers	Fetal Intestine Large	intestine
27	chr9:71734400-71735600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr9:71734400-71735600	Enhancers	Fetal Lung	lung

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