Variant report

Variant	nsv892655
Chromosome Location	chr9:16933037-16986264
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1057 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1057 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10962725	chr9:16933037-16933038	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573611410	chr9:16933065-16933066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554760492	chr9:16933108-16933109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576102384	chr9:16933156-16933157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537153401	chr9:16933199-16933200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79593006	chr9:16933272-16933273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577209399	chr9:16933278-16933279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190830308	chr9:16933298-16933299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570196473	chr9:16933309-16933310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553472982	chr9:16933332-16933333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560424604	chr9:16933345-16933346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201798718	chr9:16933350-16933351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs386733165	chr9:16933352-16933353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200578572	chr9:16933353-16933354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542814987	chr9:16933357-16933358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561065286	chr9:16933385-16933386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79395684	chr9:16933451-16933452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs66618242	chr9:16933452-16933453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs56735114	chr9:16933453-16933454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531392564	chr9:16933456-16933457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183054101	chr9:16933473-16933474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564720592	chr9:16933541-16933542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570097089	chr9:16933551-16933552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553028123	chr9:16933557-16933558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12682753	chr9:16933561-16933562	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs187958520	chr9:16933623-16933624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566332409	chr9:16933651-16933652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536572945	chr9:16933667-16933668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191904208	chr9:16933672-16933673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12377036	chr9:16933700-16933701	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs184465980	chr9:16933717-16933718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs10810683	chr9:16933734-16933735	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs368160367	chr9:16933735-16933736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs116324957	chr9:16933738-16933739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs10962727	chr9:16933740-16933741	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs10962728	chr9:16933754-16933755	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs114573131	chr9:16933762-16933763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs149005459	chr9:16933771-16933772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570502296	chr9:16933800-16933801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs145688013	chr9:16933820-16933821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543519778	chr9:16933821-16933822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs370369944	chr9:16933836-16933837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10738469	chr9:16933856-16933857	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs532127078	chr9:16933857-16933858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs114065267	chr9:16933866-16933867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112953344	chr9:16933871-16933872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530291593	chr9:16933883-16933884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs187608187	chr9:16933890-16933891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs368213367	chr9:16933944-16933945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs548513767	chr9:16933954-16933955	Enhancers	n/a	n/a	Overlapped CNVs	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16928600-16933600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr9:16933600-16934200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr9:16933600-16934400	Enhancers	Ovary	ovary
4	chr9:16943000-16943800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr9:16949800-16950400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr9:16949800-16950600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr9:16950200-16950600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr9:16950200-16950600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr9:16950200-16950600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr9:16954400-16954600	Enhancers	Fetal Kidney	kidney
11	chr9:16958200-16958800	Enhancers	NHDF-Ad	bronchial
12	chr9:16958800-16960000	Weak transcription	NHDF-Ad	bronchial
13	chr9:16959400-16960400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr9:16959800-16960600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr9:16959800-16960600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr9:16959800-16960600	Enhancers	Hela-S3	cervix
17	chr9:16960000-16960400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr9:16960000-16960400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr9:16960000-16960600	Enhancers	NHDF-Ad	bronchial
20	chr9:16960000-16960600	Enhancers	NHLF	lung
21	chr9:16960400-16963200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr9:16960400-16963600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr9:16960400-16964000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr9:16960600-16963600	Weak transcription	NHDF-Ad	bronchial
25	chr9:16960600-16963600	Weak transcription	NHLF	lung
26	chr9:16960600-16963800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr9:16960600-16963800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr9:16963200-16963600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr9:16963400-16963800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr9:16963600-16964200	Enhancers	NHLF	lung
31	chr9:16963600-16965000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr9:16963600-16965200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr9:16963600-16965200	Enhancers	NHDF-Ad	bronchial
34	chr9:16963800-16964200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr9:16963800-16964200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr9:16963800-16964200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr9:16963800-16964400	Enhancers	NH-A	brain
38	chr9:16963800-16965200	Enhancers	Osteobl	bone
39	chr9:16964000-16964200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr9:16964000-16964200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr9:16964000-16964400	ZNF genes & repeats	Aorta	Aorta
42	chr9:16964200-16964400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr9:16964200-16964800	Enhancers	Muscle Satellite Cultured Cells	--
44	chr9:16965200-16969200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr9:16965200-16970600	Weak transcription	NHDF-Ad	bronchial
46	chr9:16969200-16970000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr9:16970000-16970400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr9:16970400-16971400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr9:16970600-16971200	Enhancers	NHDF-Ad	bronchial
50	chr9:16982800-16983200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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