Variant report

Variant	esv2757320
Chromosome Location	chr9:16903850-16918196
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 880 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:880 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10810661	chr9:16903850-16903851	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs578201244	chr9:16903860-16903861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545270314	chr9:16903900-16903901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560781364	chr9:16903907-16903908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181832509	chr9:16903908-16903909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7029285	chr9:16903948-16903949	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs561389319	chr9:16903958-16903959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531703344	chr9:16903982-16903983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369465573	chr9:16903988-16903989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7032158	chr9:16904047-16904048	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs386733159	chr9:16904080-16904081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186486418	chr9:16904102-16904103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7032644	chr9:16904141-16904142	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs115515145	chr9:16904184-16904185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548630559	chr9:16904190-16904191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150999884	chr9:16904193-16904194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374225029	chr9:16904196-16904197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7032420	chr9:16904202-16904203	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs188121210	chr9:16904203-16904204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77037377	chr9:16904244-16904245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554052160	chr9:16904248-16904249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115418627	chr9:16904275-16904276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543259402	chr9:16904279-16904280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7032909	chr9:16904303-16904304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs180889050	chr9:16904324-16904325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543829124	chr9:16904331-16904332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs142263023	chr9:16904332-16904333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555701539	chr9:16904350-16904351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7032581	chr9:16904355-16904356	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs560201912	chr9:16904362-16904363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527441664	chr9:16904366-16904367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369393010	chr9:16904370-16904371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567022317	chr9:16904374-16904375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531348518	chr9:16904377-16904378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549352922	chr9:16904389-16904390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7032936	chr9:16904390-16904391	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs554413450	chr9:16904406-16904407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566254689	chr9:16904415-16904416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370794483	chr9:16904434-16904435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74364473	chr9:16904456-16904457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7033061	chr9:16904496-16904497	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs546581617	chr9:16904505-16904506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576595873	chr9:16904515-16904516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34083564	chr9:16904536-16904537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543961092	chr9:16904537-16904538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186119189	chr9:16904550-16904551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577132428	chr9:16904551-16904552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368906364	chr9:16904583-16904584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541074757	chr9:16904590-16904591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147817759	chr9:16904593-16904594	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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16902000-16914800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr9:16908200-16908600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr9:16911800-16912800	Enhancers	Muscle Satellite Cultured Cells	--
4	chr9:16911800-16912800	Enhancers	A549	lung
5	chr9:16912200-16912800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr9:16912200-16912800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr9:16912200-16912800	Enhancers	Osteobl	bone
8	chr9:16912800-16914800	Weak transcription	Osteobl	bone
9	chr9:16912800-16915200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr9:16912800-16921800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr9:16912800-16928000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr9:16914800-16915000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr9:16914800-16915600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr9:16914800-16915600	Enhancers	Adipose Nuclei	Adipose
15	chr9:16914800-16915800	Enhancers	Osteobl	bone
16	chr9:16915000-16915200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr9:16915000-16915600	Enhancers	NHDF-Ad	bronchial
18	chr9:16915200-16915400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr9:16915200-16915600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr9:16915200-16915800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr9:16915400-16915800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr9:16915400-16915800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr9:16915400-16915800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr9:16915400-16915800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr9:16915400-16915800	Enhancers	Psoas Muscle	Psoas
26	chr9:16915400-16915800	Enhancers	HSMM	muscle
27	chr9:16915800-16918800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr9:16915800-16921600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr9:16915800-16923600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr9:16915800-16928200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr9:16916400-16916600	Enhancers	Right Atrium	heart

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