Variant report

Variant	esv1223551
Chromosome Location	chr9:71691146-71691147
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	chr9:71688887..71691252-chr9:71735697..71737532,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000119139	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 58 )

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	rs63389061	chr9:71691147-71691148	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Breast cancer	22522925	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71664200-71691200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr9:71664400-71693600	Weak transcription	HMEC	breast
3	chr9:71670000-71693800	Weak transcription	Stomach Mucosa	stomach
4	chr9:71673200-71694800	Weak transcription	HSMM	muscle
5	chr9:71675000-71697400	Weak transcription	HUVEC	blood vessel
6	chr9:71675800-71691600	Weak transcription	Fetal Lung	lung
7	chr9:71676000-71693600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr9:71676400-71693600	Weak transcription	Brain Substantia Nigra	brain
9	chr9:71677400-71700000	Weak transcription	NHDF-Ad	bronchial
10	chr9:71679200-71693000	Weak transcription	Aorta	Aorta
11	chr9:71680200-71700800	Weak transcription	Fetal Kidney	kidney
12	chr9:71680800-71693000	Weak transcription	Osteobl	bone
13	chr9:71681200-71693400	Weak transcription	Brain Anterior Caudate	brain
14	chr9:71681200-71700800	Weak transcription	K562	blood
15	chr9:71681400-71693400	Weak transcription	Brain Angular Gyrus	brain
16	chr9:71681600-71692800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr9:71681600-71692800	Weak transcription	Hela-S3	cervix
18	chr9:71682200-71700800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr9:71683200-71693200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr9:71683600-71691200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr9:71683600-71693600	Weak transcription	Psoas Muscle	Psoas
22	chr9:71683600-71704200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr9:71683800-71693000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr9:71683800-71693400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr9:71683800-71693800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr9:71683800-71701000	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr9:71684000-71693600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr9:71684000-71695000	Weak transcription	Fetal Intestine Large	intestine
29	chr9:71684200-71693600	Weak transcription	Esophagus	oesophagus
30	chr9:71684400-71702200	Weak transcription	Primary B cells from cord blood	blood
31	chr9:71684800-71692800	Weak transcription	Primary B cells from peripheral blood	blood
32	chr9:71684800-71693000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr9:71684800-71693200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr9:71684800-71699200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr9:71684800-71705800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr9:71685000-71691400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr9:71685000-71693600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr9:71685400-71693400	Weak transcription	Lung	lung
39	chr9:71686200-71693200	Weak transcription	Right Ventricle	heart
40	chr9:71686200-71694200	Weak transcription	Gastric	stomach
41	chr9:71686400-71691400	Weak transcription	Fetal Heart	heart
42	chr9:71686400-71693200	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr9:71686600-71693000	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr9:71686600-71693400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr9:71686600-71693400	Weak transcription	Pancreas	Pancrea
46	chr9:71686600-71704400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr9:71687000-71691600	Weak transcription	Duodenum Mucosa	Duodenum
48	chr9:71687000-71700800	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr9:71687200-71700600	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr9:71687600-71700400	Weak transcription	HepG2	liver

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