Variant report

Variant	esv3422736
Chromosome Location	chr9:17261352-17265550
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 279 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:279 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74858149	chr9:17261356-17261357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140085716	chr9:17261400-17261401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529008719	chr9:17261422-17261423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545332411	chr9:17261424-17261425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374845009	chr9:17261437-17261438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568745370	chr9:17261530-17261531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1582030	chr9:17261546-17261547	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs189906619	chr9:17261550-17261551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149808219	chr9:17261590-17261591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182572645	chr9:17261601-17261602	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112351052	chr9:17261603-17261604	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566849111	chr9:17261607-17261608	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549569527	chr9:17261649-17261650	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533947420	chr9:17261654-17261655	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564933586	chr9:17261655-17261656	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370377192	chr9:17261666-17261667	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548145224	chr9:17261681-17261682	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566395200	chr9:17261682-17261683	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148520709	chr9:17261702-17261703	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370890322	chr9:17261703-17261704	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548803327	chr9:17261708-17261709	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373753925	chr9:17261728-17261729	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376955912	chr9:17261735-17261736	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142684423	chr9:17261752-17261753	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200909200	chr9:17261753-17261754	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187185889	chr9:17261757-17261758	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs193024440	chr9:17261761-17261762	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147641565	chr9:17261764-17261765	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10962956	chr9:17261765-17261766	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs199537683	chr9:17261766-17261767	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200559077	chr9:17261776-17261777	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183379090	chr9:17261777-17261778	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201504987	chr9:17261792-17261793	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572031110	chr9:17261823-17261824	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542463406	chr9:17261824-17261825	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188835625	chr9:17261832-17261833	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576146605	chr9:17261833-17261834	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543549133	chr9:17261837-17261838	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564815384	chr9:17261854-17261855	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550363617	chr9:17261858-17261859	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532200066	chr9:17261869-17261870	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113729711	chr9:17261876-17261877	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200788528	chr9:17261905-17261906	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549816098	chr9:17261915-17261916	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78970135	chr9:17261921-17261922	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530427146	chr9:17261930-17261931	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548890689	chr9:17261944-17261945	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs193054700	chr9:17261954-17261955	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530989540	chr9:17261966-17261967	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10962957	chr9:17261972-17261973	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:25 , 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
25	chr9:17263000-17263400	Weak transcription	Dnd41	blood

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