Variant report

Variant	esv3433475
Chromosome Location	chr9:116415344-116415513
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:116170045..116172847-chr9:116414698..116417875,3	MCF-7	breast:
2	chr9:116172481..116174769-chr9:116413541..116415745,2	MCF-7	breast:
3	chr9:116342253..116346123-chr9:116415296..116418266,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000148229	chromatin interactions
ENSG00000157653	chromatin interactions
ENSG00000138835	chromatin interactions

Extended variants
information (count: 8 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564655672	chr9:116415371-116415372	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs553775080	chr9:116415375-116415376	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs548613528	chr9:116415424-116415425	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs4979271	chr9:116415428-116415429	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs2622267	chr9:116415433-116415434	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs785096	chr9:116415463-116415464	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs621847	chr9:116415493-116415494	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs538503006	chr9:116415500-116415501	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116410400-116415600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr9:116411000-116416200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr9:116411200-116415400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr9:116411400-116415400	Enhancers	Osteobl	bone
5	chr9:116411400-116416600	Weak transcription	Adipose Nuclei	Adipose
6	chr9:116411600-116420000	Weak transcription	Fetal Brain Female	brain
7	chr9:116411800-116417800	Enhancers	Liver	Liver
8	chr9:116412000-116416400	Weak transcription	Fetal Lung	lung
9	chr9:116412200-116415400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr9:116412200-116417200	Weak transcription	Brain Anterior Caudate	brain
11	chr9:116412200-116417400	Weak transcription	Brain Angular Gyrus	brain
12	chr9:116412200-116417400	Weak transcription	Brain Substantia Nigra	brain
13	chr9:116412200-116417600	Weak transcription	Brain Hippocampus Middle	brain
14	chr9:116412400-116417200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr9:116412600-116417400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr9:116412800-116416600	Weak transcription	Colon Smooth Muscle	Colon
17	chr9:116412800-116420000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr9:116413200-116416200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr9:116413200-116416600	Weak transcription	Spleen	Spleen
20	chr9:116413400-116416200	Weak transcription	Left Ventricle	heart
21	chr9:116413400-116416600	Weak transcription	Ovary	ovary
22	chr9:116413400-116416600	Weak transcription	NHLF	lung
23	chr9:116413400-116417200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr9:116413400-116417200	Weak transcription	NH-A	brain
25	chr9:116413400-116419000	Enhancers	HepG2	liver
26	chr9:116413400-116419800	Weak transcription	Fetal Kidney	kidney
27	chr9:116413400-116420000	Weak transcription	Gastric	stomach
28	chr9:116413600-116416200	Weak transcription	Fetal Stomach	stomach
29	chr9:116413600-116417400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr9:116413800-116416800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr9:116413800-116417000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr9:116413800-116417400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr9:116414000-116416600	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr9:116414000-116417400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr9:116414000-116419400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr9:116414000-116420600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr9:116414200-116415400	Enhancers	NHDF-Ad	bronchial
38	chr9:116414200-116415600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr9:116414200-116416800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr9:116414200-116417200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr9:116414200-116417400	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr9:116414400-116416200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr9:116414400-116417400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr9:116414800-116415400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr9:116414800-116415400	Enhancers	Fetal Muscle Leg	muscle
46	chr9:116414800-116415400	Enhancers	Stomach Smooth Muscle	stomach
47	chr9:116414800-116415400	Enhancers	HMEC	breast
48	chr9:116414800-116417800	Enhancers	Fetal Heart	heart
49	chr9:116414800-116418200	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr9:116415000-116415400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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