Variant report

Variant	nsv1016723
Chromosome Location	chr9:8223541-8303017
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3393 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:3393 , 50 per page) page: 1 2 3 4 5 6 7 ... 68

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7867627	chr9:8223541-8223542	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs529806883	chr9:8223560-8223561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569220177	chr9:8223580-8223581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182450712	chr9:8223585-8223586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555022091	chr9:8223610-8223611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546469187	chr9:8223670-8223671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78995209	chr9:8223675-8223676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375269218	chr9:8223704-8223705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs75879559	chr9:8223705-8223706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113169373	chr9:8223709-8223710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544275980	chr9:8223724-8223725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs7854731	chr9:8223727-8223728	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs148250114	chr9:8223740-8223741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs373521709	chr9:8223756-8223757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs141237120	chr9:8223779-8223780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs527570712	chr9:8223784-8223785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545737828	chr9:8223788-8223789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564283608	chr9:8223824-8223825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552090087	chr9:8223845-8223846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553886047	chr9:8223853-8223854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs77777630	chr9:8223922-8223923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73415932	chr9:8223936-8223937	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs147432445	chr9:8224002-8224003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs138203382	chr9:8224007-8224008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs77489812	chr9:8224033-8224034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs73415933	chr9:8224064-8224065	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs373407653	chr9:8224073-8224074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs143046162	chr9:8224142-8224143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs147453322	chr9:8224143-8224144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559017596	chr9:8224149-8224150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs58832287	chr9:8224155-8224156	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs538020257	chr9:8224169-8224170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556739866	chr9:8224179-8224180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574149624	chr9:8224221-8224222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs139321323	chr9:8224243-8224244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12554417	chr9:8224283-8224284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187546586	chr9:8224285-8224286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571735476	chr9:8224328-8224329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537025464	chr9:8224353-8224354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs7033998	chr9:8224357-8224358	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs564191277	chr9:8224368-8224369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs4742471	chr9:8224409-8224410	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs543202885	chr9:8224417-8224418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs193279770	chr9:8224430-8224431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530206099	chr9:8224437-8224438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548749365	chr9:8224524-8224525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs12348271	chr9:8224530-8224531	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs527723635	chr9:8224534-8224535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs368215303	chr9:8224572-8224573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs75324720	chr9:8224583-8224584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	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:246 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8221600-8223600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr9:8223600-8223800	Enhancers	Fetal Intestine Small	intestine
3	chr9:8223600-8224200	Enhancers	Fetal Intestine Large	intestine
4	chr9:8223600-8225200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr9:8223600-8226400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr9:8224000-8224600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr9:8224000-8224600	Enhancers	Fetal Muscle Leg	muscle
8	chr9:8224000-8224800	Enhancers	Fetal Lung	lung
9	chr9:8224200-8231000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr9:8224800-8230200	Weak transcription	Fetal Lung	lung
11	chr9:8225200-8226200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr9:8226400-8226600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr9:8226400-8230200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr9:8230200-8230400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr9:8230200-8230600	Enhancers	Fetal Lung	lung
16	chr9:8231000-8231400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr9:8231200-8231400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr9:8231400-8234200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr9:8231400-8234400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr9:8232600-8232800	Enhancers	Brain Cingulate Gyrus	brain
21	chr9:8232800-8233000	Enhancers	Brain Hippocampus Middle	brain
22	chr9:8232800-8233400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr9:8233200-8234200	Weak transcription	Brain Hippocampus Middle	brain
24	chr9:8233400-8234800	Enhancers	Brain Cingulate Gyrus	brain
25	chr9:8233600-8235000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr9:8233600-8235200	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr9:8233600-8235600	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr9:8233800-8234800	Enhancers	Fetal Brain Female	brain
29	chr9:8233800-8235000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr9:8233800-8235000	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr9:8233800-8235000	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr9:8233800-8235000	Enhancers	Fetal Brain Male	brain
33	chr9:8233800-8235800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr9:8234000-8235200	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr9:8234200-8234600	Enhancers	H1 Cell Line	embryonic stem cell
36	chr9:8234200-8235000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr9:8234200-8235000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr9:8234200-8235000	Enhancers	Brain Hippocampus Middle	brain
39	chr9:8234400-8234600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr9:8234400-8235000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr9:8234400-8235000	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr9:8237200-8237800	Enhancers	Fetal Lung	lung
43	chr9:8244200-8244400	Enhancers	Brain Substantia Nigra	brain
44	chr9:8244200-8245200	Enhancers	Brain Hippocampus Middle	brain
45	chr9:8244400-8244800	Flanking Active TSS	Brain Substantia Nigra	brain
46	chr9:8244400-8245200	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr9:8244400-8245400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr9:8244600-8244800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr9:8244600-8244800	Enhancers	Fetal Brain Female	brain
50	chr9:8244600-8245000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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