Variant report

Variant	nsv892222
Chromosome Location	chr9:8172046-8253019
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2080 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:2080 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376857088	chr9:8176619-8176620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs10733543	chr9:8176622-8176623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs74982881	chr9:8176627-8176628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs143847633	chr9:8176632-8176633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558368096	chr9:8176668-8176669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10976819	chr9:8176670-8176671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544046351	chr9:8176674-8176675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561727233	chr9:8176675-8176676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573658789	chr9:8176688-8176689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541019394	chr9:8176740-8176741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189468646	chr9:8176757-8176758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569889869	chr9:8176760-8176761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533241992	chr9:8176785-8176786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139428274	chr9:8176853-8176854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563259644	chr9:8176860-8176861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530582453	chr9:8176871-8176872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548774361	chr9:8176872-8176873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181911466	chr9:8176925-8176926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs150067487	chr9:8176935-8176936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs561115094	chr9:8178008-8178009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528246032	chr9:8178032-8178033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540432061	chr9:8178105-8178106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559542424	chr9:8178130-8178131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533513923	chr9:8178144-8178145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs371537313	chr9:8178167-8178168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs12338695	chr9:8178199-8178200	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs185067386	chr9:8178260-8178261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567960830	chr9:8178265-8178266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144153446	chr9:8178292-8178293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147810699	chr9:8178314-8178315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191054692	chr9:8178358-8178359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141221739	chr9:8178375-8178376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146993489	chr9:8178385-8178386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574923253	chr9:8178479-8178480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535867627	chr9:8178504-8178505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554526939	chr9:8178541-8178542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573095555	chr9:8178570-8178571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540050266	chr9:8178574-8178575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183185699	chr9:8178583-8178584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542816981	chr9:8178612-8178613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138094510	chr9:8178620-8178621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140813276	chr9:8178631-8178632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12347722	chr9:8178632-8178633	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs530890051	chr9:8178676-8178677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532951362	chr9:8178691-8178692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549370528	chr9:8178720-8178721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73640590	chr9:8178725-8178726	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs528830135	chr9:8178745-8178746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188781733	chr9:8178761-8178762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12338970	chr9:8178800-8178801	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Disorders of sex development	21048976	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Metastatic melanoma	18483359	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	16783165	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	21811587	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8176600-8177000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr9:8178000-8178200	Enhancers	Brain Substantia Nigra	brain
3	chr9:8178000-8179400	Enhancers	Brain Hippocampus Middle	brain
4	chr9:8178200-8179400	Weak transcription	Brain Substantia Nigra	brain
5	chr9:8179200-8179400	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr9:8179400-8179800	Active TSS	Brain Hippocampus Middle	brain
7	chr9:8179400-8180000	Enhancers	Brain Substantia Nigra	brain
8	chr9:8179800-8180400	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr9:8179800-8180800	Enhancers	Brain Hippocampus Middle	brain
10	chr9:8180000-8180200	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr9:8180000-8182600	Weak transcription	Brain Substantia Nigra	brain
12	chr9:8180200-8180600	Enhancers	Brain Angular Gyrus	brain
13	chr9:8180800-8188800	Weak transcription	Brain Hippocampus Middle	brain
14	chr9:8182600-8183400	Enhancers	Brain Substantia Nigra	brain
15	chr9:8186600-8188000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr9:8187200-8188000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr9:8187600-8188200	Enhancers	Dnd41	blood
18	chr9:8188600-8190000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr9:8188800-8189200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr9:8188800-8189200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr9:8188800-8189200	ZNF genes & repeats	Brain Anterior Caudate	brain
22	chr9:8188800-8189200	ZNF genes & repeats	Brain Hippocampus Middle	brain
23	chr9:8188800-8189200	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr9:8190000-8190400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr9:8190400-8190600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr9:8195600-8196000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr9:8205200-8206000	Enhancers	Dnd41	blood
28	chr9:8205200-8206600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr9:8205200-8208200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr9:8205200-8210400	Enhancers	Muscle Satellite Cultured Cells	--
31	chr9:8205400-8205600	Enhancers	Primary hematopoietic stem cells	blood
32	chr9:8205600-8206400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr9:8205800-8206000	Enhancers	Osteobl	bone
34	chr9:8205800-8206200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr9:8206200-8206600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr9:8206600-8208000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr9:8206600-8209000	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr9:8206600-8209600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr9:8206800-8208000	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr9:8207600-8208000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr9:8207600-8208200	Enhancers	Primary hematopoietic stem cells	blood
42	chr9:8207800-8208000	Enhancers	Aorta	Aorta
43	chr9:8207800-8209000	Enhancers	Osteobl	bone
44	chr9:8208000-8210600	Weak transcription	Aorta	Aorta
45	chr9:8208800-8209200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr9:8208800-8209200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr9:8209600-8210200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr9:8210200-8210400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr9:8210600-8210800	Active TSS	Aorta	Aorta
50	chr9:8212800-8213600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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