Variant report

Variant	esv3482024
Chromosome Location	chr9:16882203-16885246
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 178 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:178 , 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	rs542997304	chr9:16882205-16882206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs114584625	chr9:16882207-16882208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532664102	chr9:16882210-16882211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548071726	chr9:16882220-16882221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566100251	chr9:16882234-16882235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564449729	chr9:16882244-16882245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548365537	chr9:16882248-16882249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573534423	chr9:16882263-16882264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570114090	chr9:16882269-16882270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537556209	chr9:16882276-16882277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552562936	chr9:16882279-16882280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs61202585	chr9:16882285-16882286	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs555778754	chr9:16882291-16882292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538929505	chr9:16882293-16882294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs151036006	chr9:16882299-16882300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140951065	chr9:16882300-16882301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536421119	chr9:16882319-16882320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554485807	chr9:16882334-16882335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376750523	chr9:16882336-16882337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113133695	chr9:16882340-16882341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147854451	chr9:16882345-16882346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4961502	chr9:16882346-16882347	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs141303951	chr9:16882348-16882349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541345862	chr9:16882362-16882363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560021419	chr9:16882365-16882366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188774894	chr9:16882375-16882376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377546332	chr9:16882390-16882391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146983866	chr9:16882391-16882392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192690890	chr9:16882396-16882397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530977102	chr9:16882413-16882414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71513276	chr9:16882414-16882415	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs534095468	chr9:16882415-16882416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs118000948	chr9:16882417-16882418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535049140	chr9:16882418-16882419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199538349	chr9:16882444-16882445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546702085	chr9:16882445-16882446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373445455	chr9:16882460-16882461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs137966645	chr9:16882467-16882468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372115563	chr9:16882468-16882469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536165912	chr9:16882481-16882482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554703733	chr9:16882486-16882487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538297245	chr9:16882500-16882501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566375733	chr9:16882509-16882510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs386733153	chr9:16882512-16882513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536740498	chr9:16882513-16882514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549892996	chr9:16882515-16882516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558264995	chr9:16882523-16882524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576408344	chr9:16882533-16882534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540992678	chr9:16882537-16882538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552048469	chr9:16882546-16882547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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	21611746	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16872000-16885000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:16874000-16883400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr9:16879200-16883600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr9:16879600-16883800	Weak transcription	NHLF	lung
5	chr9:16880000-16883600	Weak transcription	Dnd41	blood
6	chr9:16880400-16883200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr9:16881000-16883200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr9:16881000-16883400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr9:16883200-16884400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr9:16883200-16885400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr9:16883200-16886200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr9:16883400-16884400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr9:16883400-16885400	Enhancers	Osteobl	bone
14	chr9:16883400-16886000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr9:16883600-16885800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr9:16883600-16886600	Enhancers	Dnd41	blood
17	chr9:16883800-16885400	Enhancers	Fetal Lung	lung
18	chr9:16883800-16885400	Enhancers	Stomach Smooth Muscle	stomach
19	chr9:16883800-16885800	Enhancers	HSMM	muscle
20	chr9:16883800-16885800	Enhancers	NHDF-Ad	bronchial
21	chr9:16883800-16886000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr9:16883800-16886000	Enhancers	NHLF	lung
23	chr9:16883800-16886200	Enhancers	Primary hematopoietic stem cells	blood
24	chr9:16883800-16886200	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr9:16884000-16886200	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr9:16884200-16884600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr9:16884200-16885600	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr9:16884400-16884600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr9:16884400-16884800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr9:16884400-16885000	Enhancers	HSMMtube	muscle
31	chr9:16884400-16885200	Enhancers	Rectal Smooth Muscle	rectum
32	chr9:16884400-16885600	Enhancers	Muscle Satellite Cultured Cells	--
33	chr9:16884400-16886000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr9:16884600-16884800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr9:16884600-16885000	Enhancers	Adipose Nuclei	Adipose
36	chr9:16884600-16885400	Enhancers	Colon Smooth Muscle	Colon
37	chr9:16884800-16885000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr9:16884800-16885200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr9:16884800-16885200	Enhancers	Placenta	Placenta
40	chr9:16884800-16885400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr9:16884800-16885600	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr9:16885000-16885400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr9:16885000-16885400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr9:16885000-16885400	Enhancers	Primary T cells from cord blood	blood
45	chr9:16885000-16885400	Weak transcription	HSMMtube	muscle
46	chr9:16885000-16885600	Enhancers	Fetal Stomach	stomach
47	chr9:16885000-16885800	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr9:16885000-16886000	Enhancers	Fetal Thymus	thymus
49	chr9:16885000-16886400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr9:16885200-16885400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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