Variant report

Variant	esv3323961
Chromosome Location	chr9:136862881-136865004
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:136856689..136859629-chr9:136860948..136863697,2	K562	blood:
2	chr9:136858694..136861040-chr9:136863202..136865256,2	MCF-7	breast:
3	chr9:136862110..136863707-chr9:136863725..136867446,4	MCF-7	breast:
4	chr9:136741297..136743504-chr9:136863564..136865596,2	MCF-7	breast:
5	chr9:136856397..136858189-chr9:136860981..136863697,2	K562	blood:
6	chr9:136862110..136863707-chr9:136863725..136867446,4	MCF-7	breast:
7	chr9:136855434..136861951-chr9:136862866..136866695,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160293	chromatin interactions

Extended variants
information (count: 83 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566039480	chr9:136862894-136862895	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs363944	chr9:136862907-136862908	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs552050181	chr9:136862914-136862915	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs363945	chr9:136862929-136862930	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs148178250	chr9:136862978-136862979	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs363948	chr9:136862979-136862980	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs191651317	chr9:136862997-136862998	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs112743204	chr9:136863021-136863022	Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs551350277	chr9:136863053-136863054	Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs180867633	chr9:136863086-136863087	Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs571871903	chr9:136863093-136863094	Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs530585322	chr9:136863149-136863150	Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs55656051	chr9:136863172-136863173	Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs200535571	chr9:136863208-136863209	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs184505162	chr9:136863262-136863263	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs573835212	chr9:136863306-136863307	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs534822655	chr9:136863321-136863322	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs553245060	chr9:136863377-136863378	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs141992812	chr9:136863382-136863383	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs371383934	chr9:136863413-136863414	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs545350058	chr9:136863465-136863466	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs564490004	chr9:136863470-136863471	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs576374651	chr9:136863489-136863490	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs111163052	chr9:136863585-136863586	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs564845537	chr9:136863590-136863591	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs112676525	chr9:136863595-136863596	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs188854322	chr9:136863610-136863611	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs562044149	chr9:136863614-136863615	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs56652894	chr9:136863654-136863655	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs111162583	chr9:136863668-136863669	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs192645832	chr9:136863673-136863674	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs377570302	chr9:136863683-136863684	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs111163053	chr9:136863692-136863693	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs529404666	chr9:136863728-136863729	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs541214063	chr9:136863756-136863757	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs7041056	chr9:136863771-136863772	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs12378335	chr9:136863835-136863836	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs7041178	chr9:136863849-136863850	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs7041181	chr9:136863859-136863860	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs111070389	chr9:136863932-136863933	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs374374785	chr9:136863937-136863938	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs367949407	chr9:136863947-136863948	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs184763556	chr9:136864009-136864010	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs533432955	chr9:136864020-136864021	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs190441816	chr9:136864044-136864045	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs455740	chr9:136864075-136864076	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs569606756	chr9:136864136-136864137	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs530430490	chr9:136864141-136864142	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs113831735	chr9:136864172-136864173	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs549024251	chr9:136864193-136864194	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Oral squamous cell carcinoma	17134496	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
Breast cancer	17603634	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Cardiac fibroma	18329553	CNVD
Lung cancer	19147751	CNVD
Melanoma	18172304	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Kleefstra Syndrome	21538692	CNVD
Disorders of sex development	22290220	CNVD
Cancer	21183584	CNVD
Chronic myelomonocytic leukemia	16760666	CNVD
Abnormal phenotypes	18644119	CNVD
Ovarian cancer	21720365	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Sudden cardiac death	19188705	CNVD
Myoepithelioma	18604193	CNVD
Tuberous sclerosis	19566914	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21364760	CNVD
Cancer	20581869	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Hepatocellular carcinoma	22174799	CNVD
Bladder cancer	21909424	CNVD
Cancer	17160897	CNVD
Ependymoma	20639864	CNVD
Breast cancer	20932292	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Idiopathic chronic pancreatitis	21572526	CNVD
Kleefstra syndrome	22670141	CNVD
Schizophrenia	22241247	CNVD
9q deletion syndrome	16826528	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Non-small cell lung cancer	21829676	CNVD
Non-syndromic sensorineural hearing loss	19293338	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136859600-136864800	Weak transcription	Fetal Lung	lung
2	chr9:136859600-136875400	Weak transcription	Spleen	Spleen
3	chr9:136860000-136864000	Weak transcription	Brain Germinal Matrix	brain
4	chr9:136860200-136864200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr9:136860200-136865200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr9:136860400-136864000	Weak transcription	Fetal Brain Female	brain
7	chr9:136860600-136863400	Weak transcription	HSMM	muscle
8	chr9:136861000-136864800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr9:136862200-136868800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr9:136862400-136864200	Weak transcription	HSMMtube	muscle
11	chr9:136862800-136863000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr9:136862800-136863000	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
13	chr9:136862800-136863000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr9:136862800-136864000	Weak transcription	Fetal Muscle Leg	muscle
15	chr9:136862800-136864800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr9:136862800-136865800	Enhancers	Fetal Brain Male	brain
17	chr9:136863000-136863200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
18	chr9:136863000-136863200	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
19	chr9:136863400-136863600	Enhancers	HSMM	muscle
20	chr9:136863600-136864000	Weak transcription	HSMM	muscle
21	chr9:136864000-136864800	Enhancers	Fetal Muscle Leg	muscle
22	chr9:136864000-136865400	Enhancers	Fetal Brain Female	brain
23	chr9:136864000-136865600	Enhancers	HSMM	muscle
24	chr9:136864000-136866000	Enhancers	Brain Germinal Matrix	brain
25	chr9:136864200-136864800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr9:136864200-136864800	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr9:136864200-136865600	Enhancers	HSMMtube	muscle
28	chr9:136864400-136865400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr9:136864400-136865600	Enhancers	Fetal Stomach	stomach
30	chr9:136864600-136865000	Enhancers	NH-A	brain
31	chr9:136864800-136865000	Flanking Active TSS	Fetal Muscle Leg	muscle
32	chr9:136864800-136865200	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr9:136864800-136865600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr9:136864800-136865600	Enhancers	Fetal Lung	lung
35	chr9:136864800-136865600	Enhancers	Fetal Muscle Trunk	muscle
36	chr9:136865000-136866800	Enhancers	Fetal Muscle Leg	muscle

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