Variant report

Variant	nsv982612
Chromosome Location	chr9:9551403-9563649
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 607 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:607 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192249684	chr9:9551807-9551808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs143222744	chr9:9551808-9551809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148224788	chr9:9551813-9551814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539038466	chr9:9551816-9551817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557363448	chr9:9551837-9551838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184561840	chr9:9551839-9551840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536511198	chr9:9551845-9551846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554895000	chr9:9551849-9551850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556054666	chr9:9551931-9551932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540031093	chr9:9551939-9551940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140233075	chr9:9551941-9551942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144899453	chr9:9551947-9551948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs34898566	chr9:9552004-9552005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566018702	chr9:9552030-9552031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576831690	chr9:9552031-9552032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75970431	chr9:9552132-9552133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562102384	chr9:9552174-9552175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201284741	chr9:9552193-9552194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549310321	chr9:9552198-9552199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561398650	chr9:9552210-9552211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534358687	chr9:9552227-9552228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546843257	chr9:9552272-9552273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190408859	chr9:9552289-9552290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372465499	chr9:9552335-9552336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539087147	chr9:9552336-9552337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557479259	chr9:9552346-9552347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551005250	chr9:9552358-9552359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76583922	chr9:9552389-9552390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs180780283	chr9:9552419-9552420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554930877	chr9:9552435-9552436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140882552	chr9:9552451-9552452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74655608	chr9:9552472-9552473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184417058	chr9:9552525-9552526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576165039	chr9:9552529-9552530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189598102	chr9:9552577-9552578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181203296	chr9:9552582-9552583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs79083246	chr9:9552601-9552602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574120658	chr9:9552604-9552605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573805015	chr9:9552665-9552666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372109739	chr9:9552669-9552670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541406473	chr9:9552679-9552680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185885804	chr9:9552688-9552689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528751642	chr9:9552692-9552693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1359698	chr9:9552739-9552740	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs190600574	chr9:9552766-9552767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532745909	chr9:9552779-9552780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142275316	chr9:9552783-9552784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569352615	chr9:9552791-9552792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528390759	chr9:9552837-9552838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530151343	chr9:9552898-9552899	Weak transcription 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:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:9551800-9552000	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr9:9552000-9552800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr9:9552000-9553000	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr9:9552000-9556200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr9:9552600-9552800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr9:9552800-9556200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr9:9552800-9556600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr9:9553000-9556400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr9:9554200-9554800	Enhancers	Fetal Kidney	kidney
10	chr9:9556000-9556800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr9:9556200-9556400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr9:9556200-9556400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr9:9556200-9556400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr9:9556200-9556800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr9:9556200-9559000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr9:9556400-9556800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr9:9556400-9556800	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr9:9556400-9557200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr9:9556400-9558000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr9:9556400-9558200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr9:9556600-9556800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr9:9556600-9557800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr9:9556800-9557000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr9:9556800-9557200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr9:9556800-9557200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr9:9556800-9557200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr9:9556800-9557200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr9:9557000-9557200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr9:9557000-9557600	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr9:9557000-9557600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr9:9557000-9557800	Enhancers	Placenta Amnion	Placenta Amnion
32	chr9:9557200-9557600	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr9:9557200-9557600	Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr9:9557200-9557600	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr9:9557200-9557800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr9:9557200-9557800	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr9:9557200-9558000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr9:9557200-9558600	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr9:9557600-9558000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr9:9557600-9558000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr9:9557600-9558000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr9:9557600-9558000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr9:9557600-9558600	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr9:9557600-9559600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr9:9557800-9558000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr9:9557800-9558200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr9:9557800-9558400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr9:9557800-9558600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr9:9557800-9558600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr9:9557800-9558800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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