Variant report

Variant	nsv972784
Chromosome Location	chr9:97099816-97103863
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr9:97102032-97102106	MCF10A-Er-Src	breast:	n/a	n/a
2	MYC	chr9:97101986-97102129	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr9:97101983-97102142	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr9:97101950-97101976	HUVEC	blood vessel:	n/a	n/a
5	REST	chr9:97101057-97101402	H1-hESC	embryonic stem cell:	n/a	n/a
6	REST	chr9:97101039-97101341	H1-hESC	embryonic stem cell:	n/a	n/a
7	STAT3	chr9:97102007-97102216	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM22F-2	chr9:97100629-97101015	NONHSAT133312

Variant related genes	Relation type
ENSG00000224815	TF binding region

Extended variants
information (count: 109 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182364484	chr9:97099863-97099864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376184823	chr9:97099983-97099984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369578786	chr9:97099991-97099992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs202032838	chr9:97100011-97100012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547098301	chr9:97100141-97100142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184463684	chr9:97100143-97100144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188856564	chr9:97100152-97100153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548463874	chr9:97100182-97100183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569960923	chr9:97100204-97100205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537232580	chr9:97100228-97100229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2261513	chr9:97100236-97100237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559074029	chr9:97100239-97100240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371407474	chr9:97100366-97100367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577290237	chr9:97100515-97100516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541653485	chr9:97100518-97100519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553103508	chr9:97100553-97100554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112405769	chr9:97100667-97100668	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs375974342	chr9:97100679-97100680	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs574769691	chr9:97100748-97100749	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs181445415	chr9:97100852-97100853	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs367712912	chr9:97100899-97100900	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs139393326	chr9:97100916-97100917	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs149427003	chr9:97100925-97100926	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	mRNA abundance
24	rs116869378	chr9:97100939-97100940	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	mRNA abundance
25	rs376336487	chr9:97100949-97100950	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs565060881	chr9:97100957-97100958	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs532109095	chr9:97100962-97100963	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs545821830	chr9:97100971-97100972	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs148093106	chr9:97100977-97100978	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	mRNA abundance
30	rs529638490	chr9:97101091-97101092	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs185534043	chr9:97101121-97101122	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs2261494	chr9:97101143-97101144	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs141823710	chr9:97101144-97101145	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs191263578	chr9:97101154-97101155	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs537321529	chr9:97101168-97101169	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs2479568	chr9:97101169-97101170	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs2261491	chr9:97101170-97101171	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs146095123	chr9:97101179-97101180	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs180867966	chr9:97101181-97101182	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs534848735	chr9:97101250-97101251	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs368210834	chr9:97101264-97101265	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs140050311	chr9:97101284-97101285	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs116705349	chr9:97101302-97101303	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs186070593	chr9:97101327-97101328	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs557355317	chr9:97101464-97101465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536152815	chr9:97101521-97101522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576424394	chr9:97101564-97101565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543692864	chr9:97101569-97101570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529532508	chr9:97101602-97101603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558481357	chr9:97101626-97101627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Microcephaly	18830227	CNVD
overgrowth syndrome	16570072	CNVD
Effusion lymphoma	18079361	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97093200-97100800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr9:97095200-97105200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr9:97098000-97109200	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr9:97100800-97101000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr9:97101000-97101400	Enhancers	HUES6 Cell Line	embryonic stem cell

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