Variant report

Variant	esv13106
Chromosome Location	chr9:17260551-17262869
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 166 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:166 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556811694	chr9:17260573-17260574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188271434	chr9:17260615-17260616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545567243	chr9:17260645-17260646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554035980	chr9:17260653-17260654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572590498	chr9:17260666-17260667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543095060	chr9:17260682-17260683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542392713	chr9:17260693-17260694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574876539	chr9:17260718-17260719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573184400	chr9:17260722-17260723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143437062	chr9:17260729-17260730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181149998	chr9:17260738-17260739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116188260	chr9:17260782-17260783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147988753	chr9:17260790-17260791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141573635	chr9:17260800-17260801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374883768	chr9:17260802-17260803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1576960	chr9:17260807-17260808	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs555621312	chr9:17260839-17260840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112225827	chr9:17260850-17260851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548657301	chr9:17260858-17260859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150915454	chr9:17260877-17260878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537426308	chr9:17260880-17260881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529872383	chr9:17260883-17260884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571921330	chr9:17260884-17260885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185544834	chr9:17260896-17260897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200372530	chr9:17260905-17260906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188841289	chr9:17260927-17260928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201413713	chr9:17261029-17261030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572629631	chr9:17261035-17261036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543192042	chr9:17261060-17261061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199793422	chr9:17261062-17261063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555081307	chr9:17261069-17261070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181732681	chr9:17261074-17261075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533681243	chr9:17261085-17261086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543818742	chr9:17261097-17261098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187222430	chr9:17261098-17261099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533260102	chr9:17261113-17261114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114696350	chr9:17261114-17261115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113844623	chr9:17261177-17261178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191939915	chr9:17261184-17261185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1591138	chr9:17261209-17261210	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs139657750	chr9:17261214-17261215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376802902	chr9:17261220-17261221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73416398	chr9:17261246-17261247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531273553	chr9:17261257-17261258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549767457	chr9:17261258-17261259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369729935	chr9:17261272-17261273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571108121	chr9:17261289-17261290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113948804	chr9:17261293-17261294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184243513	chr9:17261299-17261300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528123238	chr9:17261308-17261309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17223600-17279400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:17236400-17262000	Weak transcription	Ovary	ovary
3	chr9:17247400-17269000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr9:17257800-17261800	Weak transcription	Liver	Liver
5	chr9:17259200-17262800	Weak transcription	Fetal Brain Male	brain
6	chr9:17260600-17269000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr9:17260800-17262200	Weak transcription	Left Ventricle	heart
8	chr9:17261600-17262200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr9:17261600-17262800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr9:17261600-17262800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr9:17261800-17262600	ZNF genes & repeats	Liver	Liver
12	chr9:17261800-17262800	ZNF genes & repeats	Adipose Nuclei	Adipose
13	chr9:17262000-17262400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
14	chr9:17262000-17262800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
15	chr9:17262000-17262800	ZNF genes & repeats	Fetal Lung	lung
16	chr9:17262000-17262800	ZNF genes & repeats	Ovary	ovary
17	chr9:17262400-17262800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr9:17262400-17262800	ZNF genes & repeats	Left Ventricle	heart
19	chr9:17262400-17263000	ZNF genes & repeats	Dnd41	blood
20	chr9:17262600-17263400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr9:17262600-17280400	Weak transcription	Liver	Liver
22	chr9:17262800-17263000	Active TSS	Fetal Brain Male	brain
23	chr9:17262800-17264600	Weak transcription	Fetal Lung	lung
24	chr9:17262800-17339800	Weak transcription	Left Ventricle	heart

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