Variant report

Variant	nsv825050
Chromosome Location	chr9:115760632-115761312
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs60759016	chr9:115760672-115760673	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564858366	chr9:115760742-115760743	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368163484	chr9:115760767-115760768	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530440518	chr9:115760860-115760861	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550621289	chr9:115760932-115760933	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532256001	chr9:115760980-115760981	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs117553492	chr9:115761037-115761038	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190321826	chr9:115761046-115761047	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1324934	chr9:115761049-115761050	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs182968263	chr9:115761051-115761052	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567165543	chr9:115761078-115761079	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149265398	chr9:115761091-115761092	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186224632	chr9:115761164-115761165	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10513176	chr9:115761221-115761222	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs537883485	chr9:115761268-115761269	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs202005246	chr9:115761295-115761296	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	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
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
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Lung cancer	19147751	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:115753800-115768800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr9:115755400-115765200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr9:115758400-115762400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr9:115759200-115761000	ZNF genes & repeats	Liver	Liver
5	chr9:115759200-115761800	ZNF genes & repeats	Fetal Brain Male	brain
6	chr9:115759200-115762000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr9:115759200-115762200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
8	chr9:115759200-115762200	ZNF genes & repeats	Adipose Nuclei	Adipose
9	chr9:115759200-115762400	ZNF genes & repeats	Brain Substantia Nigra	brain
10	chr9:115759200-115763000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr9:115759200-115763000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
12	chr9:115759200-115764400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr9:115759200-115764400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr9:115759200-115764400	ZNF genes & repeats	Fetal Lung	lung
15	chr9:115759200-115765400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
16	chr9:115759200-115767000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr9:115759200-115768800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
18	chr9:115759200-115769000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
19	chr9:115759200-115773000	ZNF genes & repeats	Fetal Brain Female	brain
20	chr9:115759400-115761000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
21	chr9:115759400-115762200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
22	chr9:115759400-115762200	ZNF genes & repeats	Fetal Kidney	kidney
23	chr9:115759400-115762400	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
24	chr9:115759400-115762400	ZNF genes & repeats	Left Ventricle	heart
25	chr9:115759400-115762600	ZNF genes & repeats	Colon Smooth Muscle	Colon
26	chr9:115759400-115764200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr9:115759400-115764200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr9:115759400-115764400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
29	chr9:115759400-115765400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
30	chr9:115759400-115765600	ZNF genes & repeats	Brain Hippocampus Middle	brain
31	chr9:115759400-115768800	ZNF genes & repeats	Brain Anterior Caudate	brain
32	chr9:115759600-115761800	ZNF genes & repeats	Osteobl	bone
33	chr9:115759600-115762400	ZNF genes & repeats	Fetal Muscle Leg	muscle
34	chr9:115759600-115764400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
35	chr9:115759600-115765600	ZNF genes & repeats	Brain Germinal Matrix	brain
36	chr9:115759600-115765800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr9:115759600-115767000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
38	chr9:115759600-115767000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
39	chr9:115759800-115760800	ZNF genes & repeats	Fetal Muscle Trunk	muscle
40	chr9:115759800-115762000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
41	chr9:115759800-115762400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr9:115759800-115763000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr9:115759800-115764600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr9:115760000-115762000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
45	chr9:115760000-115762400	ZNF genes & repeats	Ovary	ovary
46	chr9:115760000-115764400	ZNF genes & repeats	HepG2	liver
47	chr9:115760200-115762400	ZNF genes & repeats	Stomach Smooth Muscle	stomach
48	chr9:115760400-115762200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
49	chr9:115760600-115761600	Strong transcription	Placenta Amnion	Placenta Amnion
50	chr9:115760800-115761600	Weak transcription	Fetal Muscle Trunk	muscle

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