Variant report

Variant	nsv1028702
Chromosome Location	chr9:10439300-10502638
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:10455080..10457059-chr9:10458329..10460552,2	MCF-7	breast:
2	chr9:10455080..10457059-chr9:10458329..10460552,2	MCF-7	breast:
3	chr2:145089819..145090468-chr9:10441934..10442434,2	NB4	blood:

Variant related genes	Relation type
ENSG00000121964	chromatin interactions

Extended variants
information (count: 536 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:536 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186960671	chr9:10439348-10439349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs377389615	chr9:10439364-10439365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs57301923	chr9:10439376-10439377	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs573076869	chr9:10439387-10439388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148852627	chr9:10439392-10439393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557424880	chr9:10439412-10439413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145065487	chr9:10439428-10439429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200180014	chr9:10439432-10439433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543006409	chr9:10439446-10439447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73408104	chr9:10439477-10439478	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs377756347	chr9:10439495-10439496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542893381	chr9:10439501-10439502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530905625	chr9:10439546-10439547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112882903	chr9:10439569-10439570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs58200853	chr9:10439626-10439627	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs551611434	chr9:10439654-10439655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565330630	chr9:10439671-10439672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572446095	chr9:10439706-10439707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190156473	chr9:10439716-10439717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550665654	chr9:10439718-10439719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567634415	chr9:10439741-10439742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536276091	chr9:10439793-10439794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182010793	chr9:10439796-10439797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186077023	chr9:10439840-10439841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538810184	chr9:10439847-10439848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190952991	chr9:10439888-10439889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs13285866	chr9:10439943-10439944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112310303	chr9:10439950-10439951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1845564	chr9:10439997-10439998	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs573560306	chr9:10440005-10440006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373867622	chr9:10440007-10440008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs13298807	chr9:10440012-10440013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140978295	chr9:10440025-10440026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542304988	chr9:10440064-10440065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559646036	chr9:10440074-10440075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115364582	chr9:10440075-10440076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545194276	chr9:10440080-10440081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565091184	chr9:10440086-10440087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145934002	chr9:10440110-10440111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368607682	chr9:10440111-10440112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561269553	chr9:10440118-10440119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1075897	chr9:10440166-10440167	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs73408110	chr9:10440194-10440195	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs72698990	chr9:10440196-10440197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76351935	chr9:10440201-10440202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532690028	chr9:10440232-10440233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182149094	chr9:10440237-10440238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76221645	chr9:10440312-10440313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538085118	chr9:10440332-10440333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557016607	chr9:10440334-10440335	Weak transcription	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
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
Breast cancer	21611746	CNVD
Melanoma	22183965	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:10435400-10446200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr9:10436000-10445800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr9:10437200-10439600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr9:10438800-10439400	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr9:10439000-10439600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr9:10439000-10440000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr9:10439400-10445200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr9:10439600-10439800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr9:10439600-10445800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr9:10439800-10445800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr9:10440000-10440400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr9:10440400-10441200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr9:10443600-10444200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr9:10445200-10447200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr9:10445600-10446600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr9:10445800-10446600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr9:10445800-10447000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr9:10445800-10447200	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr9:10446000-10447400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr9:10446200-10446600	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr9:10446200-10447400	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr9:10446600-10447000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr9:10446600-10447200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr9:10446600-10447200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr9:10446600-10447600	Enhancers	H9 Cell Line	embryonic stem cell
26	chr9:10446800-10447200	Enhancers	H1 Cell Line	embryonic stem cell
27	chr9:10447000-10447200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr9:10447000-10447600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr9:10462200-10464200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr9:10464200-10464400	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr9:10464200-10464600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
32	chr9:10464400-10464600	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast

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