Variant report

Variant	nsv1021440
Chromosome Location	chr9:9231961-9329870
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 892 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:892 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147643633	chr9:9237808-9237809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs372113799	chr9:9237823-9237824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142310133	chr9:9237836-9237837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376212995	chr9:9237861-9237862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145943443	chr9:9237864-9237865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542698259	chr9:9237871-9237872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564697337	chr9:9237888-9237889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561051675	chr9:9237900-9237901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528218357	chr9:9237908-9237909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546573954	chr9:9237920-9237921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76192275	chr9:9237923-9237924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571185107	chr9:9237989-9237990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7022453	chr9:9237994-9237995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533659599	chr9:9237997-9237998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7863734	chr9:9238001-9238002	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs531382948	chr9:9238010-9238011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377718906	chr9:9238011-9238012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145583624	chr9:9238038-9238039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191474806	chr9:9238051-9238052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149155970	chr9:9238072-9238073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567738023	chr9:9238073-9238074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143301152	chr9:9238153-9238154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148286826	chr9:9238160-9238161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12336879	chr9:9238171-9238172	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs538907790	chr9:9238218-9238219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs117812834	chr9:9238226-9238227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141968804	chr9:9238228-9238229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542837207	chr9:9238246-9238247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548611870	chr9:9238247-9238248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560974640	chr9:9238262-9238263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572874096	chr9:9238272-9238273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6477377	chr9:9238287-9238288	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs6477378	chr9:9238292-9238293	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs183049060	chr9:9238313-9238314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551609144	chr9:9238316-9238317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563648287	chr9:9238323-9238324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531149504	chr9:9238333-9238334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557412760	chr9:9238399-9238400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549161128	chr9:9238413-9238414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35077950	chr9:9238420-9238421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567789944	chr9:9238447-9238448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145661647	chr9:9238465-9238466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113077529	chr9:9238477-9238478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546802086	chr9:9238488-9238489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571571700	chr9:9238489-9238490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7864378	chr9:9238528-9238529	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs72696862	chr9:9238551-9238552	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs575610160	chr9:9238566-9238567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138479544	chr9:9238578-9238579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs13289496	chr9:9238639-9238640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:9237800-9239600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:9239600-9240000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:9256000-9257000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr9:9260200-9260600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr9:9270200-9270600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr9:9283600-9284400	Enhancers	Fetal Kidney	kidney
7	chr9:9305800-9306000	Enhancers	Fetal Stomach	stomach
8	chr9:9306400-9307400	Weak transcription	Fetal Stomach	stomach
9	chr9:9307200-9309800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr9:9307400-9308000	Enhancers	Fetal Stomach	stomach
11	chr9:9307800-9308600	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr9:9309800-9310400	Enhancers	Fetal Heart	heart
13	chr9:9309800-9311200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr9:9310200-9310800	Enhancers	Pancreas	Pancrea
15	chr9:9310400-9310600	Enhancers	Stomach Mucosa	stomach
16	chr9:9311200-9311600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr9:9311400-9311600	Enhancers	Stomach Mucosa	stomach
18	chr9:9311600-9313400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr9:9313400-9313600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr9:9317400-9319600	Enhancers	Stomach Mucosa	stomach
21	chr9:9318400-9319400	Enhancers	Brain Cingulate Gyrus	brain
22	chr9:9318600-9318800	Enhancers	Brain Angular Gyrus	brain
23	chr9:9318600-9319000	Enhancers	Brain Anterior Caudate	brain
24	chr9:9318800-9319000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr9:9318800-9319000	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr9:9318800-9319200	Flanking Active TSS	Brain Angular Gyrus	brain
27	chr9:9318800-9319200	Enhancers	Brain Hippocampus Middle	brain
28	chr9:9318800-9319200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr9:9318800-9319400	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr9:9318800-9319400	Enhancers	Fetal Kidney	kidney
31	chr9:9318800-9319400	Enhancers	Fetal Lung	lung
32	chr9:9318800-9319600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr9:9319000-9319200	Flanking Active TSS	Brain Anterior Caudate	brain
34	chr9:9319000-9319400	Enhancers	H9 Cell Line	embryonic stem cell
35	chr9:9319000-9319400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
36	chr9:9319200-9319400	Active TSS	Brain Anterior Caudate	brain
37	chr9:9319200-9319600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr9:9319200-9319800	Enhancers	Brain Angular Gyrus	brain
39	chr9:9326000-9327600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr9:9326600-9327200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr9:9327000-9327200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr9:9327200-9331400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr9:9327200-9331600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr9:9327600-9329800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr9:9329600-9330400	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr9:9329600-9331800	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr9:9329800-9330000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr9:9329800-9330200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr9:9329800-9330200	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr9:9329800-9330600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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