Variant report

Variant	esv33646
Chromosome Location	chr9:116397799-116397943
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:116383167..116386391-chr9:116389906..116398638,8	MCF-7	breast:
2	chr9:116392305..116395161-chr9:116397306..116400059,2	MCF-7	breast:
3	chr9:116396277..116398394-chr9:116409096..116411903,2	MCF-7	breast:
4	chr9:116395680..116398027-chr9:116408814..116410400,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560963070	chr9:116397814-116397815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369668113	chr9:116397819-116397820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186842404	chr9:116397825-116397826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148093258	chr9:116397879-116397880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371607031	chr9:116397885-116397886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112549178	chr9:116397887-116397888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552607326	chr9:116397897-116397898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190034580	chr9:116397898-116397899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538025230	chr9:116397907-116397908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150189824	chr9:116397922-116397923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568176834	chr9:116397935-116397936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs727866	chr9:116397937-116397938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Breast cancer	22522925	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116385800-116402600	Weak transcription	Stomach Mucosa	stomach
2	chr9:116389800-116402800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr9:116392600-116399000	Enhancers	Fetal Muscle Leg	muscle
4	chr9:116393400-116399400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr9:116393600-116398400	Enhancers	Osteobl	bone
6	chr9:116393600-116399000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr9:116393800-116398800	Enhancers	Fetal Stomach	stomach
8	chr9:116394600-116399000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr9:116394800-116398400	Enhancers	HUVEC	blood vessel
10	chr9:116395000-116398600	Enhancers	Fetal Muscle Trunk	muscle
11	chr9:116395200-116398800	Enhancers	Fetal Lung	lung
12	chr9:116395600-116398000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr9:116396000-116398600	Enhancers	NH-A	brain
14	chr9:116396000-116398800	Enhancers	Psoas Muscle	Psoas
15	chr9:116396000-116399200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr9:116396200-116398400	Enhancers	HSMMtube	muscle
17	chr9:116396200-116398800	Enhancers	Right Atrium	heart
18	chr9:116396200-116398800	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr9:116396200-116399000	Enhancers	Adipose Nuclei	Adipose
20	chr9:116396200-116399000	Enhancers	HSMM	muscle
21	chr9:116396200-116399400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr9:116396200-116399400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr9:116396400-116398200	Enhancers	Liver	Liver
24	chr9:116396400-116398800	Enhancers	Left Ventricle	heart
25	chr9:116396800-116397800	Enhancers	A549	lung
26	chr9:116396800-116398000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr9:116396800-116398200	Enhancers	Right Ventricle	heart
28	chr9:116396800-116398600	Enhancers	Muscle Satellite Cultured Cells	--
29	chr9:116396800-116398600	Enhancers	Ovary	ovary
30	chr9:116396800-116398800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr9:116397000-116397800	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr9:116397000-116398000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr9:116397000-116399600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr9:116397200-116397800	Enhancers	Colon Smooth Muscle	Colon
35	chr9:116397200-116397800	Flanking Active TSS	HepG2	liver
36	chr9:116397200-116398400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr9:116397200-116398600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr9:116397200-116398800	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr9:116397200-116400400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr9:116397200-116401200	Weak transcription	Spleen	Spleen
41	chr9:116397400-116398400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr9:116397400-116398400	Weak transcription	NHLF	lung
43	chr9:116397400-116398600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr9:116397600-116397800	Enhancers	Lung	lung
45	chr9:116397600-116398600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr9:116397600-116403000	Weak transcription	Fetal Heart	heart
47	chr9:116397800-116398200	Enhancers	HepG2	liver
48	chr9:116397800-116400800	Weak transcription	Colon Smooth Muscle	Colon

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