Variant report

Variant	nsv613785
Chromosome Location	chr9:22606575-22619733
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 588 )
Associated
traits (count: 149 )

Variant overlapped rSNPs/rCNVs (count:588 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4518745	chr9:22606575-22606576	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541933039	chr9:22606578-22606579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562182357	chr9:22606582-22606583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187641843	chr9:22606652-22606653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530886439	chr9:22606681-22606682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139739461	chr9:22606703-22606704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550987233	chr9:22606764-22606765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115279902	chr9:22606785-22606786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532485227	chr9:22606811-22606812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140978153	chr9:22606814-22606815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565891813	chr9:22606830-22606831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534775897	chr9:22606838-22606839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570612231	chr9:22606872-22606873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565453950	chr9:22606889-22606890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575719092	chr9:22606918-22606919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534545858	chr9:22606928-22606929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150250866	chr9:22606938-22606939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556960704	chr9:22606952-22606953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553220969	chr9:22607097-22607098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576714651	chr9:22607114-22607115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527916994	chr9:22607179-22607180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7032670	chr9:22607203-22607204	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs76820979	chr9:22607208-22607209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553215174	chr9:22607222-22607223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574651218	chr9:22607241-22607242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573121134	chr9:22607248-22607249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12376407	chr9:22607261-22607262	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs556558626	chr9:22607282-22607283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575733848	chr9:22607284-22607285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs193172916	chr9:22607285-22607286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184552651	chr9:22607316-22607317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533324267	chr9:22607324-22607325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77511454	chr9:22607384-22607385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143320807	chr9:22607391-22607392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559660220	chr9:22607392-22607393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78626361	chr9:22607400-22607401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76664223	chr9:22607402-22607403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78561257	chr9:22607405-22607406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79590173	chr9:22607411-22607412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528376297	chr9:22607416-22607417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79317212	chr9:22607420-22607421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548401947	chr9:22607436-22607437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568156232	chr9:22607437-22607438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138536104	chr9:22607438-22607439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545477114	chr9:22607442-22607443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113538946	chr9:22607480-22607481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570441862	chr9:22607568-22607569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539015765	chr9:22607569-22607570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189870040	chr9:22607609-22607610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112647329	chr9:22607610-22607611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:149)

Disease	PMID	Source
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
Oral squamous cell carcinoma	17134496	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
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic myeloid leukemia	21384125	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Cancer	22183965	CNVD
Glioblastoma multiforme	21569311	CNVD
Myelofibrosis	22110671	CNVD
Ewing''s sarcoma	22429812	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung cancer	21911935	CNVD
Primary central nervous system lymphoma	21088137	CNVD
head and neck squamous cell carcinoma	21798897	CNVD
Cancer	21253487	CNVD
Glioblastoma multiforme	22286061	CNVD
Intracranial ependymoma	16609018	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Urothelial cell carcinoma	18451213	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Leukemia	19602459	CNVD
Acute monocytic leukemia	16498392	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Leukemia	18688285	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Acute myeloid leukemia	19651601	CNVD
Coronary Disease	20032323	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21732550	CNVD
Gastric cancer	22539939	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Metastatic melanoma	18483359	CNVD
Non-small cell lung cancer	20864512	CNVD
Cervical cancer	21062161	CNVD
Acute myeloid leukemia	16864856	CNVD
Glioblastoma	17090523	CNVD
Lung cancer	16773561	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16774939	CNVD
Bladder cancer	19088036	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	16977458	CNVD
Glioblastoma multiforme	17369134	CNVD
Chagasic megaesophagus	20163722	CNVD
Melanoma	19566914	CNVD
Squamous cell cancer	19047905	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Glioma	20126413	CNVD
Melanoma	17363583	CNVD
Glioblastoma multiforme	19115005	CNVD
Glioblastoma multiforme	21138945	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Cancer	20581869	CNVD
Oral cancer	22144094	CNVD
Barrett''s syndrome	19417022	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	17237825	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:22596000-22618000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:22603800-22607600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr9:22607400-22607800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr9:22607400-22608400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr9:22607600-22608000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr9:22607800-22608400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr9:22607800-22608400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr9:22608000-22610400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr9:22608400-22609600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr9:22608400-22610000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr9:22608400-22610400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr9:22610000-22610600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr9:22610400-22610600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr9:22610400-22610800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr9:22610400-22611000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr9:22610400-22612600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr9:22610600-22610800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr9:22615200-22615800	Active TSS	Fetal Heart	heart
19	chr9:22616600-22618000	Enhancers	Psoas Muscle	Psoas
20	chr9:22616600-22618000	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr9:22617000-22618000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr9:22617200-22617800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr9:22617400-22618000	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr9:22617800-22622600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr9:22618000-22622800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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