Variant report

Variant	nsv409023
Chromosome Location	chr9:71549530-71549533
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151295423	chr9:71549530-71549531	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs199537104	chr9:71549532-71549533	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71510400-71576200	Weak transcription	Stomach Mucosa	stomach
2	chr9:71514200-71553600	Weak transcription	Aorta	Aorta
3	chr9:71514200-71557800	Weak transcription	Lung	lung
4	chr9:71519400-71573000	Weak transcription	Gastric	stomach
5	chr9:71532800-71556800	Weak transcription	Right Ventricle	heart
6	chr9:71535000-71569600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr9:71535200-71555400	Weak transcription	Left Ventricle	heart
8	chr9:71536600-71557400	Weak transcription	Colonic Mucosa	Colon
9	chr9:71542000-71551600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:71542200-71564400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr9:71542400-71549800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr9:71542400-71549800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr9:71543000-71553600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr9:71545000-71561600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr9:71545200-71553600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr9:71545400-71549600	Weak transcription	Fetal Intestine Small	intestine
17	chr9:71545400-71553600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr9:71545400-71553600	Weak transcription	HepG2	liver
19	chr9:71545400-71562400	Weak transcription	K562	blood
20	chr9:71546800-71561000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr9:71547200-71557400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr9:71547800-71550000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr9:71547800-71553400	Weak transcription	Fetal Intestine Large	intestine
24	chr9:71548000-71549800	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr9:71548400-71549600	Enhancers	Fetal Kidney	kidney
26	chr9:71548800-71550400	Enhancers	Pancreas	Pancrea
27	chr9:71548800-71555600	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr9:71548800-71564200	Weak transcription	Placenta	Placenta
29	chr9:71549000-71553800	Weak transcription	Primary B cells from cord blood	blood
30	chr9:71549200-71549800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr9:71549200-71550000	Enhancers	GM12878-XiMat	blood
32	chr9:71549200-71550800	Strong transcription	Primary B cells from peripheral blood	blood
33	chr9:71549200-71554800	Weak transcription	Fetal Heart	heart
34	chr9:71549200-71557200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr9:71549200-71562000	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr9:71549200-71566200	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr9:71549200-71570000	Weak transcription	Fetal Stomach	stomach

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