Variant report

Variant	nsv982197
Chromosome Location	chr9:15579327-15590303
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	ATF3	chr9:15587162-15587411	K562	blood:	n/a	n/a
2	CEBPB	chr9:15587167-15587391	HepG2	liver:	n/a	chr9:15587301-15587312
3	CEBPB	chr9:15587156-15587411	K562	blood:	n/a	chr9:15587301-15587312
4	CEBPB	chr9:15587130-15587433	IMR90	lung:	n/a	chr9:15587301-15587312
5	CTCF	chr9:15580018-15580055	GM13976	blood:	n/a	n/a
6	CTCF	chr9:15587259-15587267	LNCaP	prostate:	n/a	n/a
7	CTCF	chr9:15580057-15580065	GM13976	blood:	n/a	n/a
8	CTCF	chr9:15581741-15581826	Kidney_OC	kidney:	n/a	n/a
9	EBF1	chr9:15589316-15589332	GM12878	blood:	n/a	n/a
10	MAFK	chr9:15588574-15588655	HepG2	liver:	n/a	n/a
11	MAFK	chr9:15588501-15588764	HepG2	liver:	n/a	n/a
12	POLR2A	chr9:15580808-15580974	ProgFib	skin:	n/a	n/a
13	RFX5	chr9:15578707-15579332	IMR90	lung:	n/a	n/a
14	SPI1	chr9:15580885-15581065	GM12878	blood:	n/a	n/a
15	SPI1	chr9:15580904-15581027	K562	blood:	n/a	n/a
16	SPI1	chr9:15580827-15581188	GM12891	blood:	n/a	n/a
17	SPI1	chr9:15580882-15581087	GM12891	blood:	n/a	n/a
18	USF1	chr9:15584403-15584668	H1-hESC	embryonic stem cell:	n/a	n/a
19	USF1	chr9:15584372-15584705	H1-hESC	embryonic stem cell:	n/a	n/a
20	USF2	chr9:15584455-15584636	H1-hESC	embryonic stem cell:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SNAPC3-4	chr9:15588353-15588613	NONHSAT130276

Variant related genes	Relation type
HMGN2P16	TF binding region

Extended variants
information (count: 528 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:528 , 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	rs551117637	chr9:15579332-15579333	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140627284	chr9:15579357-15579358	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs75026763	chr9:15579368-15579369	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116776510	chr9:15579378-15579379	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567153586	chr9:15579383-15579384	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549449149	chr9:15579413-15579414	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187472923	chr9:15579486-15579487	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146499225	chr9:15579527-15579528	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192575900	chr9:15579531-15579532	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs57201285	chr9:15579541-15579542	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs566014860	chr9:15579547-15579548	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558719432	chr9:15579551-15579552	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184805915	chr9:15579583-15579584	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78457418	chr9:15579588-15579589	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577164833	chr9:15579603-15579604	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563928005	chr9:15579609-15579610	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528347590	chr9:15579621-15579622	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs199582607	chr9:15579640-15579641	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534916094	chr9:15579651-15579652	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543341567	chr9:15579677-15579678	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76896575	chr9:15579717-15579718	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544382054	chr9:15579729-15579730	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs3129710	chr9:15579744-15579745	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs550831304	chr9:15579845-15579846	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569366825	chr9:15579881-15579882	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143188585	chr9:15579882-15579883	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571422548	chr9:15579928-15579929	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551708485	chr9:15579943-15579944	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566765412	chr9:15579974-15579975	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534476733	chr9:15579975-15579976	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148263449	chr9:15580029-15580030	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140113064	chr9:15580071-15580072	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538039397	chr9:15580072-15580073	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189386996	chr9:15580100-15580101	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537109329	chr9:15580122-15580123	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181702851	chr9:15580123-15580124	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557703107	chr9:15580169-15580170	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185122307	chr9:15580210-15580211	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150304208	chr9:15580285-15580286	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190020490	chr9:15580287-15580288	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574026757	chr9:15580302-15580303	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544419053	chr9:15580328-15580329	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563645312	chr9:15580431-15580432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs137889705	chr9:15580454-15580455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181082723	chr9:15580482-15580483	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10120805	chr9:15580509-15580510	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557425850	chr9:15580511-15580512	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189576178	chr9:15580541-15580542	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536634008	chr9:15580550-15580551	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567615158	chr9:15580567-15580568	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	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
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	19835627	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:15553800-15580600	Weak transcription	Ovary	ovary
2	chr9:15553800-15592600	Weak transcription	Left Ventricle	heart
3	chr9:15554000-15590200	Weak transcription	Fetal Stomach	stomach
4	chr9:15554400-15579400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr9:15554600-15580800	Weak transcription	Brain Anterior Caudate	brain
6	chr9:15562200-15588200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr9:15562400-15583800	Weak transcription	Thymus	Thymus
8	chr9:15572400-15580800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr9:15574600-15580000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr9:15574800-15579400	Strong transcription	Primary hematopoietic stem cells	blood
11	chr9:15578600-15580000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr9:15578800-15580400	Strong transcription	Fetal Thymus	thymus
13	chr9:15579400-15590200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr9:15580000-15587000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr9:15580000-15587600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr9:15580400-15581000	Weak transcription	Fetal Thymus	thymus
17	chr9:15580800-15582200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr9:15581000-15581600	Strong transcription	Fetal Thymus	thymus
19	chr9:15581600-15583000	Weak transcription	Fetal Thymus	thymus
20	chr9:15582200-15583200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr9:15583000-15583400	ZNF genes & repeats	Fetal Thymus	thymus
22	chr9:15583200-15584400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr9:15583400-15584800	Enhancers	Fetal Thymus	thymus
24	chr9:15583600-15584800	Enhancers	Placenta	Placenta
25	chr9:15583800-15586000	Enhancers	Thymus	Thymus
26	chr9:15584000-15585000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr9:15584400-15584800	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr9:15584400-15585000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr9:15584400-15585800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr9:15584400-15588600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr9:15584600-15584800	Enhancers	H1 Cell Line	embryonic stem cell
32	chr9:15584600-15585400	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr9:15584600-15585400	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr9:15584600-15585600	Enhancers	H9 Cell Line	embryonic stem cell
35	chr9:15584600-15585800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr9:15584800-15585200	Weak transcription	Fetal Thymus	thymus
37	chr9:15584800-15585600	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr9:15584800-15585600	Weak transcription	Placenta	Placenta
39	chr9:15585200-15585600	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr9:15585200-15586000	Enhancers	Fetal Thymus	thymus
41	chr9:15585400-15585600	Enhancers	H1 Cell Line	embryonic stem cell
42	chr9:15585600-15585800	Enhancers	Placenta	Placenta
43	chr9:15586000-15587000	Weak transcription	Fetal Thymus	thymus
44	chr9:15586000-15588200	Weak transcription	Thymus	Thymus
45	chr9:15587000-15587200	ZNF genes & repeats	Fetal Thymus	thymus
46	chr9:15587000-15588400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr9:15587000-15620400	Weak transcription	Pancreas	Pancrea
48	chr9:15587200-15588200	Weak transcription	Fetal Thymus	thymus
49	chr9:15587600-15588600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr9:15588200-15588600	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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