Variant report

Variant	esv3486544
Chromosome Location	chr9:72653112-72653361
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	chr9:72650886..72653009-chr9:72653069..72655464,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7859484	chr9:72653113-72653114	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs76925086	chr9:72653136-72653137	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs62572639	chr9:72653152-72653153	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs202138398	chr9:72653161-72653162	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs7872985	chr9:72653178-72653179	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs202164861	chr9:72653188-72653189	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs201056858	chr9:72653189-72653190	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs62572640	chr9:72653192-72653193	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs202110628	chr9:72653193-72653194	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs61045866	chr9:72653198-72653199	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs55752105	chr9:72653208-72653209	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs56267664	chr9:72653209-72653210	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs59555785	chr9:72653212-72653213	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142307622	chr9:72653214-72653215	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201053549	chr9:72653216-72653217	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs56045139	chr9:72653217-72653218	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs56385326	chr9:72653219-72653220	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs58387425	chr9:72653220-72653221	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189378803	chr9:72653226-72653227	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs58353926	chr9:72653230-72653231	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs56040220	chr9:72653245-72653246	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2997649	chr9:72653254-72653255	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs62572642	chr9:72653261-72653262	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs62572643	chr9:72653265-72653266	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs28502387	chr9:72653269-72653270	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs28449629	chr9:72653273-72653274	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs71364574	chr9:72653279-72653280	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs55925434	chr9:72653284-72653285	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2975922	chr9:72653288-72653289	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62636482	chr9:72653304-72653305	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199854842	chr9:72653307-72653308	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556327212	chr9:72653308-72653309	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571327907	chr9:72653309-72653310	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200703317	chr9:72653312-72653313	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201002763	chr9:72653314-72653315	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs62641084	chr9:72653318-72653319	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs59635536	chr9:72653361-72653362	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
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
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Intellectual disability	21811512	CNVD
Autism	21484199	CNVD
Breast cancer	22737080	CNVD
Malignant peripheral nerve sheath tumor	22811580	CNVD
Leprosy	22719964	CNVD
Primary ovarian insufficiency	22879975	CNVD
Malignant melanoma	17260012	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72647400-72657200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr9:72651600-72654000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr9:72652800-72653600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:72652800-72653600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr9:72653000-72653200	Bivalent/Poised TSS	Primary B cells from peripheral blood	blood
6	chr9:72653000-72653200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
7	chr9:72653000-72653400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr9:72653000-72653400	Flanking Bivalent TSS/Enh	Aorta	Aorta
9	chr9:72653000-72653400	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
10	chr9:72653000-72653400	ZNF genes & repeats	Fetal Thymus	thymus
11	chr9:72653000-72653600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
12	chr9:72653000-72653600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
13	chr9:72653000-72653600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
14	chr9:72653000-72653600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr9:72653000-72653600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr9:72653000-72653600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr9:72653000-72653600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
18	chr9:72653000-72653600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr9:72653000-72653600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr9:72653000-72653600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
21	chr9:72653000-72653600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
22	chr9:72653000-72653600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
23	chr9:72653000-72653600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
24	chr9:72653000-72653600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
25	chr9:72653000-72653600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr9:72653000-72653600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr9:72653000-72653600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr9:72653000-72653600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr9:72653000-72653600	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr9:72653000-72653600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
31	chr9:72653000-72653600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr9:72653000-72653600	ZNF genes & repeats	Primary B cells from cord blood	blood
33	chr9:72653000-72653600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
34	chr9:72653000-72653600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
35	chr9:72653000-72653600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
36	chr9:72653000-72653600	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
37	chr9:72653000-72653600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
38	chr9:72653000-72653600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
39	chr9:72653000-72653600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
40	chr9:72653000-72653600	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
41	chr9:72653000-72653600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
42	chr9:72653000-72653600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
43	chr9:72653000-72653600	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr9:72653000-72653600	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
45	chr9:72653000-72653600	Flanking Bivalent TSS/Enh	Primary T killer naive cells fromperipheralblood	blood
46	chr9:72653000-72653600	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
47	chr9:72653000-72653600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr9:72653000-72653600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr9:72653000-72653600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr9:72653000-72653600	ZNF genes & repeats	Muscle Satellite Cultured Cells	--

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