Variant report

Variant	nsv466267
Chromosome Location	chr9:16937552-16982584
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 816 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:816 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548493102	chr9:16943028-16943029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1538590	chr9:16943046-16943047	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs114750977	chr9:16943047-16943048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73646737	chr9:16943104-16943105	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs570167822	chr9:16943138-16943139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570016075	chr9:16943178-16943179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534424645	chr9:16943183-16943184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184951090	chr9:16943197-16943198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141631741	chr9:16943207-16943208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535755966	chr9:16943238-16943239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs10962748	chr9:16943243-16943244	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs576025900	chr9:16943270-16943271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546370267	chr9:16943282-16943283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188216751	chr9:16943288-16943289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573364158	chr9:16943330-16943331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs193157965	chr9:16943357-16943358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184691182	chr9:16943369-16943370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561911564	chr9:16943384-16943385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs1890641	chr9:16943412-16943413	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs10962749	chr9:16943452-16943453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563571447	chr9:16943454-16943455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1890642	chr9:16943455-16943456	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs375637561	chr9:16943482-16943483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551914814	chr9:16943491-16943492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs368540237	chr9:16943503-16943504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs553377733	chr9:16943504-16943505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1538591	chr9:16943514-16943515	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs546706338	chr9:16943515-16943516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568076940	chr9:16943528-16943529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535399777	chr9:16943532-16943533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs550306193	chr9:16943539-16943540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7855568	chr9:16943605-16943606	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs367608376	chr9:16943606-16943607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558378589	chr9:16943636-16943637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573504824	chr9:16943643-16943644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189402446	chr9:16943695-16943696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs371340593	chr9:16943726-16943727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs555798198	chr9:16943735-16943736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560955418	chr9:16943743-16943744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574072291	chr9:16943767-16943768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs577525908	chr9:16949805-16949806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112161741	chr9:16949819-16949820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs12349681	chr9:16949833-16949834	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs148721363	chr9:16949839-16949840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs142205249	chr9:16949847-16949848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs114184515	chr9:16949873-16949874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182725662	chr9:16949881-16949882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531686702	chr9:16949900-16949901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs75383077	chr9:16949921-16949922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs10962762	chr9:16949930-16949931	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:84)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16943000-16943800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr9:16949800-16950400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr9:16949800-16950600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr9:16950200-16950600	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr9:16950200-16950600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr9:16950200-16950600	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr9:16954400-16954600	Enhancers	Fetal Kidney	kidney
8	chr9:16958200-16958800	Enhancers	NHDF-Ad	bronchial
9	chr9:16958800-16960000	Weak transcription	NHDF-Ad	bronchial
10	chr9:16959400-16960400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr9:16959800-16960600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr9:16959800-16960600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr9:16959800-16960600	Enhancers	Hela-S3	cervix
14	chr9:16960000-16960400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr9:16960000-16960400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr9:16960000-16960600	Enhancers	NHDF-Ad	bronchial
17	chr9:16960000-16960600	Enhancers	NHLF	lung
18	chr9:16960400-16963200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr9:16960400-16963600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr9:16960400-16964000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr9:16960600-16963600	Weak transcription	NHDF-Ad	bronchial
22	chr9:16960600-16963600	Weak transcription	NHLF	lung
23	chr9:16960600-16963800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr9:16960600-16963800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr9:16963200-16963600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr9:16963400-16963800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr9:16963600-16964200	Enhancers	NHLF	lung
28	chr9:16963600-16965000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr9:16963600-16965200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr9:16963600-16965200	Enhancers	NHDF-Ad	bronchial
31	chr9:16963800-16964200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr9:16963800-16964200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr9:16963800-16964200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr9:16963800-16964400	Enhancers	NH-A	brain
35	chr9:16963800-16965200	Enhancers	Osteobl	bone
36	chr9:16964000-16964200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr9:16964000-16964200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr9:16964000-16964400	ZNF genes & repeats	Aorta	Aorta
39	chr9:16964200-16964400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr9:16964200-16964800	Enhancers	Muscle Satellite Cultured Cells	--
41	chr9:16965200-16969200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr9:16965200-16970600	Weak transcription	NHDF-Ad	bronchial
43	chr9:16969200-16970000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr9:16970000-16970400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr9:16970400-16971400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr9:16970600-16971200	Enhancers	NHDF-Ad	bronchial

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