Variant report

Variant	esv2762800
Chromosome Location	chr9:16952875-16963863
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 316 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:316 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200778526	chr9:16954487-16954488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533716291	chr9:16954489-16954490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1416743	chr9:16954497-16954498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140498125	chr9:16954508-16954509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs58074651	chr9:16954509-16954510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1416744	chr9:16954534-16954535	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs142101146	chr9:16954545-16954546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374172048	chr9:16954555-16954556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549024217	chr9:16954565-16954566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs151170867	chr9:16954567-16954568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376961196	chr9:16958220-16958221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs16935180	chr9:16958263-16958264	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs531299777	chr9:16958273-16958274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs144059415	chr9:16958279-16958280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11999020	chr9:16958312-16958313	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs186728284	chr9:16958326-16958327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192844520	chr9:16958356-16958357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184801182	chr9:16958370-16958371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146418354	chr9:16958383-16958384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576724173	chr9:16958402-16958403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534641105	chr9:16958441-16958442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs10962767	chr9:16958463-16958464	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs574498577	chr9:16958473-16958474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs34418721	chr9:16958484-16958485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542029212	chr9:16958492-16958493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs12002903	chr9:16958499-16958500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575331365	chr9:16958532-16958533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545457544	chr9:16958534-16958535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564115143	chr9:16958543-16958544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs16935185	chr9:16958544-16958545	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs188471334	chr9:16958552-16958553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs55813831	chr9:16958580-16958581	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs55995817	chr9:16958583-16958584	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs192892351	chr9:16958587-16958588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184684409	chr9:16958598-16958599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189393279	chr9:16958612-16958613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544645619	chr9:16958625-16958626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551352742	chr9:16958675-16958676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566489876	chr9:16958686-16958687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs560104124	chr9:16958698-16958699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs4961430	chr9:16958700-16958701	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs542741309	chr9:16958704-16958705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs369837129	chr9:16958718-16958719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552818392	chr9:16958765-16958766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs367995517	chr9:16958783-16958784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535277358	chr9:16958787-16958788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs557147939	chr9:16958788-16958789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs144456887	chr9:16958800-16958801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545958614	chr9:16958824-16958825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561008144	chr9:16958849-16958850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Schizophrenia	23813976	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16954400-16954600	Enhancers	Fetal Kidney	kidney
2	chr9:16958200-16958800	Enhancers	NHDF-Ad	bronchial
3	chr9:16958800-16960000	Weak transcription	NHDF-Ad	bronchial
4	chr9:16959400-16960400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr9:16959800-16960600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr9:16959800-16960600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr9:16959800-16960600	Enhancers	Hela-S3	cervix
8	chr9:16960000-16960400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr9:16960000-16960400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr9:16960000-16960600	Enhancers	NHDF-Ad	bronchial
11	chr9:16960000-16960600	Enhancers	NHLF	lung
12	chr9:16960400-16963200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr9:16960400-16963600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr9:16960400-16964000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr9:16960600-16963600	Weak transcription	NHDF-Ad	bronchial
16	chr9:16960600-16963600	Weak transcription	NHLF	lung
17	chr9:16960600-16963800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr9:16960600-16963800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr9:16963200-16963600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr9:16963400-16963800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr9:16963600-16964200	Enhancers	NHLF	lung
22	chr9:16963600-16965000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr9:16963600-16965200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr9:16963600-16965200	Enhancers	NHDF-Ad	bronchial
25	chr9:16963800-16964200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr9:16963800-16964200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr9:16963800-16964200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr9:16963800-16964400	Enhancers	NH-A	brain
29	chr9:16963800-16965200	Enhancers	Osteobl	bone

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