Variant report

Variant	nsv1016118
Chromosome Location	chr9:9444744-9582169
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:9539103..9541014-chr9:9543806..9546014,2	K562	blood:
2	chr9:9539103..9541014-chr9:9543806..9546014,2	K562	blood:

Extended variants
information (count: 3277 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:3277 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184633669	chr9:9447809-9447810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs74713462	chr9:9447815-9447816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543274281	chr9:9447843-9447844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570860977	chr9:9447855-9447856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538096313	chr9:9447887-9447888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141824384	chr9:9447908-9447909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189396247	chr9:9447916-9447917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12345909	chr9:9447940-9447941	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs76375436	chr9:9447971-9447972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139642857	chr9:9447978-9447979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561796213	chr9:9447992-9447993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527672706	chr9:9448007-9448008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374647874	chr9:9448016-9448017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs79777282	chr9:9448017-9448018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs59656779	chr9:9448029-9448030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181273668	chr9:9448040-9448041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547732498	chr9:9448044-9448045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185740268	chr9:9448047-9448048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544862582	chr9:9448071-9448072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563066960	chr9:9448080-9448081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs76964064	chr9:9448103-9448104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs532025275	chr9:9448130-9448131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560563550	chr9:9448140-9448141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs77989889	chr9:9448191-9448192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533429134	chr9:9448215-9448216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550139183	chr9:9448225-9448226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114217122	chr9:9448246-9448247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs140040999	chr9:9448248-9448249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531627858	chr9:9448287-9448288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10977757	chr9:9448290-9448291	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs568295974	chr9:9448299-9448300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535637422	chr9:9448300-9448301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10977758	chr9:9448336-9448337	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs114776616	chr9:9448352-9448353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539115072	chr9:9448355-9448356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557453401	chr9:9448357-9448358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549688678	chr9:9448370-9448371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs373566079	chr9:9448394-9448395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575611160	chr9:9448397-9448398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188885245	chr9:9448408-9448409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181635464	chr9:9448411-9448412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs73403021	chr9:9448417-9448418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs566336102	chr9:9448419-9448420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs534326376	chr9:9448422-9448423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs542510929	chr9:9448427-9448428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs187174933	chr9:9448437-9448438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs10977759	chr9:9448445-9448446	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs577460862	chr9:9448463-9448464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564596638	chr9:9448468-9448469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs546298564	chr9:9448483-9448484	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

Disease	PMID	Source
abnormal development	18461090	CNVD
Disorders of sex development	21048976	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
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21080181	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
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
Intellectual disability	22102821	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Lung cancer	20668451	CNVD
Schizophrenia	20838587	CNVD
Glioblastoma	18772890	CNVD
Glioblastoma multiforme	21390271	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute myeloid leukemia	21251322	CNVD
Autism	20531469	CNVD
Lung adenocarcinoma	17982442	CNVD
Gastric cancer	22315472	CNVD

Chromatin state (count:220 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:9447800-9450000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr9:9449000-9449400	Enhancers	Brain Substantia Nigra	brain
3	chr9:9464000-9465000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr9:9465000-9465800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr9:9465800-9469600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr9:9469600-9469800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr9:9469800-9470000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr9:9470000-9470200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr9:9470200-9470400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr9:9478400-9480200	Enhancers	Fetal Lung	lung
11	chr9:9482600-9483800	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr9:9482800-9484800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr9:9483200-9483600	Enhancers	Brain Hippocampus Middle	brain
14	chr9:9483200-9483800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr9:9483800-9489000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr9:9484800-9488800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr9:9488800-9489400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr9:9488800-9490000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr9:9489000-9489400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr9:9497600-9498600	Enhancers	Fetal Lung	lung
21	chr9:9497800-9498400	Enhancers	Brain Cingulate Gyrus	brain
22	chr9:9498000-9498400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr9:9498000-9498400	Enhancers	Brain Substantia Nigra	brain
24	chr9:9498200-9498400	Enhancers	Brain Anterior Caudate	brain
25	chr9:9498200-9498800	Enhancers	Brain Hippocampus Middle	brain
26	chr9:9498400-9499000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr9:9498400-9499400	Weak transcription	Brain Substantia Nigra	brain
28	chr9:9498400-9500200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr9:9498600-9499800	Weak transcription	Brain Anterior Caudate	brain
30	chr9:9498600-9502200	Weak transcription	Fetal Lung	lung
31	chr9:9498800-9500000	Weak transcription	Brain Hippocampus Middle	brain
32	chr9:9499800-9500000	Enhancers	Brain Substantia Nigra	brain
33	chr9:9499800-9500600	Enhancers	Brain Anterior Caudate	brain
34	chr9:9500000-9500400	Enhancers	Brain Hippocampus Middle	brain
35	chr9:9501400-9508800	Weak transcription	Fetal Brain Male	brain
36	chr9:9502200-9503000	Enhancers	Fetal Lung	lung
37	chr9:9508800-9509000	Active TSS	Fetal Brain Male	brain
38	chr9:9514000-9514400	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr9:9514000-9514400	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr9:9514000-9514600	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr9:9514400-9514800	Enhancers	Fetal Heart	heart
42	chr9:9514400-9518200	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr9:9514400-9519200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr9:9514600-9520400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr9:9518200-9518800	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr9:9518600-9518800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr9:9518800-9520400	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr9:9518800-9520400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr9:9519200-9519800	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr9:9519800-9520200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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