Variant report

Variant	esv3390506
Chromosome Location	chr9:98328831-98332229
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	chr9:98272232..98274861-chr9:98331837..98334312,2	MCF-7	breast:

Extended variants
information (count: 179 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:179 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555279111	chr9:98328858-98328859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181496657	chr9:98328890-98328891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571457962	chr9:98328928-98328929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538716049	chr9:98328933-98328934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544078948	chr9:98328965-98328966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564929735	chr9:98328974-98328975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532256695	chr9:98328977-98328978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375580280	chr9:98328980-98328981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373880382	chr9:98328981-98328982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551054501	chr9:98328982-98328983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559062344	chr9:98328985-98328986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4743399	chr9:98329006-98329007	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs548176754	chr9:98329008-98329009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79187218	chr9:98329083-98329084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs28675274	chr9:98329088-98329089	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs115765058	chr9:98329095-98329096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571372296	chr9:98329150-98329151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538770625	chr9:98329167-98329168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186464260	chr9:98329190-98329191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565921287	chr9:98329303-98329304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140420520	chr9:98329308-98329309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536659984	chr9:98329331-98329332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs57861943	chr9:98329351-98329352	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs149656675	chr9:98329359-98329360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs145461303	chr9:98329365-98329366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs75386118	chr9:98329366-98329367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76099988	chr9:98329371-98329372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191336529	chr9:98329390-98329391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182710886	chr9:98329426-98329427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs28497999	chr9:98329427-98329428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186055982	chr9:98329443-98329444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148835838	chr9:98329474-98329475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530729121	chr9:98329513-98329514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551925044	chr9:98329529-98329530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs143812470	chr9:98329535-98329536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528305952	chr9:98329575-98329576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs76485639	chr9:98329578-98329579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs4743369	chr9:98329593-98329594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544749643	chr9:98329683-98329684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566213502	chr9:98329692-98329693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536208900	chr9:98329707-98329708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548576266	chr9:98329718-98329719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570333993	chr9:98329719-98329720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537715549	chr9:98329728-98329729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191084639	chr9:98329734-98329735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559324701	chr9:98329736-98329737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146644919	chr9:98329758-98329759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs61218176	chr9:98329824-98329825	Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs183262553	chr9:98329919-98329920	Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556962661	chr9:98329944-98329945	Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
overgrowth syndrome	16570072	CNVD
Effusion lymphoma	18079361	CNVD
Pancreatic cancer	17952125	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:98319600-98330000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:98319800-98329800	Weak transcription	Spleen	Spleen
3	chr9:98319800-98330000	Weak transcription	Fetal Kidney	kidney
4	chr9:98324800-98329800	Weak transcription	Gastric	stomach
5	chr9:98327200-98329600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr9:98327400-98329800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr9:98327600-98329200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:98328000-98329400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr9:98329200-98329600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr9:98329200-98330200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr9:98329200-98330200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr9:98329200-98330200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr9:98329200-98330400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr9:98329400-98330000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr9:98329600-98329800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr9:98329600-98329800	Enhancers	H9 Cell Line	embryonic stem cell
17	chr9:98329600-98330000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr9:98329600-98330000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr9:98329600-98330000	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr9:98329600-98330200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr9:98329600-98330200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr9:98329600-98332200	Weak transcription	Fetal Lung	lung
23	chr9:98329600-98332600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr9:98329800-98330000	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr9:98329800-98330200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
26	chr9:98329800-98330200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr9:98329800-98330200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr9:98329800-98330200	Enhancers	Gastric	stomach
29	chr9:98329800-98330800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr9:98329800-98330800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
31	chr9:98329800-98331000	ZNF genes & repeats	Spleen	Spleen
32	chr9:98330000-98330200	Bivalent Enhancer	Fetal Brain Male	brain
33	chr9:98330000-98330400	ZNF genes & repeats	Fetal Kidney	kidney
34	chr9:98330000-98330600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr9:98330000-98330800	ZNF genes & repeats	Pancreas	Pancrea
36	chr9:98330000-98331000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr9:98330000-98331000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr9:98330000-98332200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr9:98330000-98332200	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr9:98330200-98332200	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr9:98330200-98332200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr9:98330200-98335000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr9:98330400-98330600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr9:98330400-98332200	Weak transcription	Fetal Kidney	kidney
45	chr9:98330400-98332400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr9:98330600-98330800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr9:98330800-98332400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr9:98330800-98332400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr9:98330800-98333000	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr9:98331000-98331200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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