Variant report

Variant	esv3422593
Chromosome Location	chr9:16087152-16091450
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 212 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:212 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542984467	chr9:16087215-16087216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191926624	chr9:16087299-16087300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141206879	chr9:16087336-16087337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183838233	chr9:16087340-16087341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188283830	chr9:16087349-16087350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs200802072	chr9:16087360-16087361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2382552	chr9:16087364-16087365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191705233	chr9:16087376-16087377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs182616047	chr9:16087377-16087378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186845354	chr9:16087380-16087381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191328983	chr9:16087381-16087382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548953855	chr9:16087425-16087426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs183593259	chr9:16087447-16087448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567364790	chr9:16087458-16087459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189248495	chr9:16087487-16087488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537067316	chr9:16087540-16087541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs199553075	chr9:16087550-16087551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs369704249	chr9:16087556-16087557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs377167643	chr9:16087610-16087611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs202035879	chr9:16087626-16087627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558588260	chr9:16087628-16087629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577270251	chr9:16087666-16087667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541561682	chr9:16087679-16087680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138202020	chr9:16087698-16087699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553159720	chr9:16087733-16087734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs57004263	chr9:16087736-16087737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150634795	chr9:16087763-16087764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561191273	chr9:16087764-16087765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200181038	chr9:16087766-16087767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200684447	chr9:16087769-16087770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537301550	chr9:16087805-16087806	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs193060707	chr9:16087830-16087831	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs374007603	chr9:16087834-16087835	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs543449210	chr9:16087887-16087888	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs564945784	chr9:16087893-16087894	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs4532696	chr9:16087903-16087904	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs185430480	chr9:16087919-16087920	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs201659035	chr9:16087935-16087936	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs190044395	chr9:16087944-16087945	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs138608771	chr9:16087958-16087959	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs181509411	chr9:16087967-16087968	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs12000112	chr9:16087988-16087989	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs12000511	chr9:16088001-16088002	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs12000537	chr9:16088003-16088004	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs149301436	chr9:16088024-16088025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558678732	chr9:16088088-16088089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368313560	chr9:16088114-16088115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570866447	chr9:16088126-16088127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372297602	chr9:16088136-16088137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184185462	chr9:16088150-16088151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Intellectual disability	22102821	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
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	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
Ovarian cancer	19835627	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16087200-16087600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:16087600-16087800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr9:16087800-16088000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:16088000-16089600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr9:16088600-16088800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr9:16089200-16091000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr9:16089600-16090000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr9:16090400-16090800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr9:16090400-16091400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr9:16090800-16093800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr9:16091000-16091600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr9:16091000-16091600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr9:16091000-16091600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr9:16091000-16091600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr9:16091000-16093400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr9:16091000-16093800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr9:16091200-16091400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr9:16091200-16091600	Enhancers	HSMM	muscle
19	chr9:16091200-16091800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr9:16091200-16091800	Enhancers	Fetal Intestine Large	intestine
21	chr9:16091200-16092800	Enhancers	NHLF	lung
22	chr9:16091200-16093400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr9:16091400-16091600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr9:16091400-16092600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr9:16091400-16093600	Enhancers	Fetal Muscle Leg	muscle
26	chr9:16091400-16094000	Enhancers	Fetal Stomach	stomach

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