Variant report

Variant	esv2039126
Chromosome Location	chr9:116936263-116936264
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	chr9:116933656..116936282-chr9:116947384..116950321,2	MCF-7	breast:
2	chr9:116878648..116881578-chr9:116935106..116937121,2	MCF-7	breast:

Extended variants
information (count: 1 )
Associated
traits (count: 61 )

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	rs35701083	chr9:116936263-116936264	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21509527	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Melanoma	17363583	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116919000-116936600	Weak transcription	Brain Hippocampus Middle	brain
2	chr9:116919000-116937600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr9:116919200-116972000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr9:116919600-116939600	Weak transcription	Hela-S3	cervix
5	chr9:116926000-116937200	Weak transcription	Gastric	stomach
6	chr9:116926200-116937400	Weak transcription	Right Ventricle	heart
7	chr9:116926200-116943800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr9:116926400-116937000	Weak transcription	Stomach Mucosa	stomach
9	chr9:116926400-116950200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr9:116926400-116950400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr9:116926600-116939400	Weak transcription	Fetal Kidney	kidney
12	chr9:116926800-116937000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr9:116929000-116937000	Weak transcription	HSMM	muscle
14	chr9:116929200-116937800	Weak transcription	HUVEC	blood vessel
15	chr9:116929400-116937200	Weak transcription	HSMMtube	muscle
16	chr9:116930000-116938800	Genic enhancers	Fetal Muscle Leg	muscle
17	chr9:116930400-116937200	Weak transcription	Lung	lung
18	chr9:116930600-116937000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr9:116930600-116937200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr9:116930600-116954400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr9:116931000-116946400	Genic enhancers	Fetal Stomach	stomach
22	chr9:116931000-116971800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr9:116932200-116938600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr9:116932600-116936800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr9:116932600-116938000	Enhancers	Fetal Thymus	thymus
26	chr9:116932800-116939200	Weak transcription	Osteobl	bone
27	chr9:116932800-116943800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr9:116932800-116971800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr9:116933000-116939400	Weak transcription	Fetal Lung	lung
30	chr9:116933200-116938200	Genic enhancers	Fetal Intestine Small	intestine
31	chr9:116933200-116939000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr9:116933200-116939200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr9:116933200-116940400	Weak transcription	Spleen	Spleen
34	chr9:116933400-116937200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr9:116933600-116936600	Enhancers	HepG2	liver
36	chr9:116933800-116937000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr9:116934400-116940600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr9:116934400-116942800	Enhancers	Colon Smooth Muscle	Colon
39	chr9:116934600-116937000	Enhancers	NHDF-Ad	bronchial
40	chr9:116934600-116940600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr9:116934800-116937600	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr9:116934800-116937600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr9:116934800-116940000	Enhancers	Stomach Smooth Muscle	stomach
44	chr9:116934800-116942000	Enhancers	Rectal Smooth Muscle	rectum
45	chr9:116935000-116936400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr9:116935000-116937400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr9:116935000-116946600	Enhancers	Liver	Liver
48	chr9:116935200-116940800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr9:116935200-116941600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr9:116935200-116942000	Enhancers	Pancreas	Pancrea

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