Variant report

Variant	esv3483897
Chromosome Location	chr9:136817779-136818262
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:136813894..136816969-chr9:136817141..136821146,4	MCF-7	breast:
2	chr9:136815804..136817789-chr9:136835631..136837132,2	MCF-7	breast:
3	chr9:136815263..136820961-chr9:136821414..136825553,6	MCF-7	breast:
4	chr9:136817340..136820147-chr9:136822604..136825397,2	MCF-7	breast:
5	chr9:136658180..136659755-chr9:136816253..136818516,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538889966	chr9:136817817-136817818	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs555071193	chr9:136817833-136817834	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs575392349	chr9:136817839-136817840	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs536766128	chr9:136817844-136817845	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs2319056	chr9:136817859-136817860	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs113556986	chr9:136817893-136817894	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs189321098	chr9:136817896-136817897	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs191502114	chr9:136817923-136817924	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs2256875	chr9:136817957-136817958	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs59227051	chr9:136817983-136817984	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs201280954	chr9:136817986-136817987	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs2319058	chr9:136817990-136817991	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs183621832	chr9:136817992-136817993	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs57204251	chr9:136817993-136817994	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs112704989	chr9:136817995-136817996	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs10821540	chr9:136818017-136818018	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs2319059	chr9:136818025-136818026	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs2319060	chr9:136818026-136818027	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs2256876	chr9:136818054-136818055	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs2319061	chr9:136818058-136818059	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs2319062	chr9:136818059-136818060	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs2319063	chr9:136818060-136818061	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs563207499	chr9:136818092-136818093	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs437062	chr9:136818119-136818120	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs2319064	chr9:136818126-136818127	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs4058727	chr9:136818153-136818154	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs112794029	chr9:136818157-136818158	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs2319065	chr9:136818160-136818161	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs2319066	chr9:136818161-136818162	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs4058728	chr9:136818162-136818163	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs560801628	chr9:136818171-136818172	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs531907855	chr9:136818192-136818193	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs528126344	chr9:136818197-136818198	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs546272912	chr9:136818209-136818210	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs570861573	chr9:136818212-136818213	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs181251055	chr9:136818221-136818222	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs4058729	chr9:136818222-136818223	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs4058714	chr9:136818226-136818227	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs4058715	chr9:136818227-136818228	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs4058716	chr9:136818228-136818229	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs4058717	chr9:136818230-136818231	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs4058718	chr9:136818234-136818235	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs79704147	chr9:136818242-136818243	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs4058719	chr9:136818244-136818245	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs3967928	chr9:136818246-136818247	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs569128942	chr9:136818249-136818250	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs536424013	chr9:136818250-136818251	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs4058720	chr9:136818251-136818252	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	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:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136784000-136819800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr9:136801200-136820200	Weak transcription	Left Ventricle	heart
3	chr9:136801400-136821200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr9:136803200-136821200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr9:136803600-136821000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr9:136804200-136819800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr9:136804200-136820200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr9:136804200-136821000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr9:136804200-136821200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr9:136805800-136819400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr9:136809600-136821000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr9:136810400-136821200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr9:136810600-136821200	Weak transcription	Osteobl	bone
14	chr9:136810800-136818800	Weak transcription	Esophagus	oesophagus
15	chr9:136811400-136820200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr9:136811400-136821000	Weak transcription	HMEC	breast
17	chr9:136811600-136819800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr9:136811800-136818200	Weak transcription	Fetal Intestine Large	intestine
19	chr9:136811800-136821600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr9:136812200-136817800	Weak transcription	NHEK	skin
21	chr9:136812200-136821800	Weak transcription	Hela-S3	cervix
22	chr9:136813800-136819000	Weak transcription	Fetal Thymus	thymus
23	chr9:136813800-136819400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr9:136813800-136821000	Weak transcription	Gastric	stomach
25	chr9:136814000-136819000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr9:136814200-136819400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr9:136814200-136819400	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr9:136814800-136821400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr9:136815000-136818200	Weak transcription	GM12878-XiMat	blood
30	chr9:136815400-136819400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr9:136815600-136821000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr9:136815800-136818000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr9:136816000-136819000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr9:136816000-136819200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr9:136816000-136819400	Weak transcription	Fetal Brain Female	brain
36	chr9:136816200-136819000	Weak transcription	Brain Angular Gyrus	brain
37	chr9:136816200-136819800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr9:136816200-136819800	Weak transcription	NH-A	brain
39	chr9:136816200-136821000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr9:136816400-136819200	Weak transcription	Brain Hippocampus Middle	brain
41	chr9:136816400-136820000	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr9:136816400-136821000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr9:136816600-136819000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr9:136816600-136819800	Strong transcription	Fetal Intestine Small	intestine
45	chr9:136816600-136819800	Weak transcription	Fetal Kidney	kidney
46	chr9:136816600-136820200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr9:136816600-136821000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr9:136816600-136821000	Weak transcription	Rectal Smooth Muscle	rectum
49	chr9:136816600-136821200	Weak transcription	Colon Smooth Muscle	Colon
50	chr9:136816800-136818000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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