Variant report

Variant	esv275323
Chromosome Location	chr9:73861558-73862940
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	chr9:73855908..73857588-chr9:73861755..73863334,2	MCF-7	breast:

Extended variants
information (count: 60 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150643377	chr9:73861584-73861585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs78246314	chr9:73861630-73861631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570392304	chr9:73861688-73861689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11142753	chr9:73861699-73861700	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs75131373	chr9:73861700-73861701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577618628	chr9:73861716-73861717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186112875	chr9:73861748-73861749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555563529	chr9:73861768-73861769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10781001	chr9:73861773-73861774	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs73647980	chr9:73861852-73861853	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs531515401	chr9:73861929-73861930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567770382	chr9:73861932-73861933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544963678	chr9:73861965-73861966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs375246901	chr9:73861994-73861995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs149296467	chr9:73862034-73862035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs113845044	chr9:73862035-73862036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547862097	chr9:73862042-73862043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567689337	chr9:73862050-73862051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189389307	chr9:73862160-73862161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182228233	chr9:73862178-73862179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570330268	chr9:73862184-73862185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs144567186	chr9:73862193-73862194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551771461	chr9:73862209-73862210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs139388299	chr9:73862218-73862219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369704635	chr9:73862219-73862220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570771861	chr9:73862263-73862264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370048996	chr9:73862264-73862265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs34584730	chr9:73862270-73862271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs68019002	chr9:73862291-73862292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs71505932	chr9:73862295-73862296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187260531	chr9:73862299-73862300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs114266411	chr9:73862315-73862316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573421367	chr9:73862342-73862343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73469327	chr9:73862350-73862351	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs555946627	chr9:73862380-73862381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542015544	chr9:73862419-73862420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575887474	chr9:73862461-73862462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs144954854	chr9:73862465-73862466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545287235	chr9:73862518-73862519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369779566	chr9:73862527-73862528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs144652277	chr9:73862538-73862539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs73647981	chr9:73862587-73862588	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs190564203	chr9:73862613-73862614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541097131	chr9:73862638-73862639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561406045	chr9:73862649-73862650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182744868	chr9:73862688-73862689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111513420	chr9:73862727-73862728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144161875	chr9:73862751-73862752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563869836	chr9:73862768-73862769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145929732	chr9:73862796-73862797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Breast cancer	17133270	CNVD
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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	20729466	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oral cancer	21386901	CNVD
Epilepsy	22083797	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Malignant melanoma	17260012	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:73857600-73861600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:73858200-73861600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr9:73858600-73861800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr9:73858600-73862000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr9:73859400-73864600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr9:73859400-73864800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr9:73859800-73865400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:73860400-73862000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr9:73860800-73862000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr9:73861000-73861800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr9:73861000-73862600	Enhancers	Liver	Liver
12	chr9:73861000-73864600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr9:73861200-73865400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr9:73861400-73861800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr9:73861400-73862000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr9:73861600-73863600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr9:73861600-73864400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr9:73861800-73864400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr9:73861800-73864600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr9:73861800-73864600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr9:73862000-73864400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr9:73862000-73864400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr9:73862000-73864400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr9:73862000-73864600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr9:73862600-73864600	Weak transcription	Liver	Liver

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