Variant report

Variant	nsv1034795
Chromosome Location	chr9:15565670-15595591
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	chr9:15587130-15587433	IMR90	lung:	n/a	chr9:15587301-15587312
3	CEBPB	chr9:15578740-15579055	IMR90	lung:	n/a	n/a
4	CEBPB	chr9:15587167-15587391	HepG2	liver:	n/a	chr9:15587301-15587312
5	CEBPB	chr9:15587156-15587411	K562	blood:	n/a	chr9:15587301-15587312
6	CTCF	chr9:15580057-15580065	GM13976	blood:	n/a	n/a
7	CTCF	chr9:15581741-15581826	Kidney_OC	kidney:	n/a	n/a
8	CTCF	chr9:15580018-15580055	GM13976	blood:	n/a	n/a
9	CTCF	chr9:15587259-15587267	LNCaP	prostate:	n/a	n/a
10	EBF1	chr9:15592880-15593391	GM12878	blood:	n/a	chr9:15593080-15593091 chr9:15593121-15593132
11	EBF1	chr9:15592654-15592658	GM12878	blood:	n/a	n/a
12	EBF1	chr9:15589316-15589332	GM12878	blood:	n/a	n/a
13	EBF1	chr9:15592990-15593261	GM12878	blood:	n/a	chr9:15593080-15593091 chr9:15593121-15593132
14	MAFF	chr9:15592341-15592672	HepG2	liver:	n/a	chr9:15592513-15592531
15	MAFF	chr9:15592344-15592684	K562	blood:	n/a	chr9:15592513-15592531
16	MAFK	chr9:15592343-15592689	HepG2	liver:	n/a	chr9:15592514-15592529 chr9:15592518-15592529 chr9:15592519-15592530 chr9:15592519-15592530 chr9:15592517-15592531 chr9:15592514-15592530
17	MAFK	chr9:15593318-15593377	HepG2	liver:	n/a	chr9:15593322-15593333 chr9:15593322-15593333 chr9:15593321-15593332
18	MAFK	chr9:15592396-15592615	K562	blood:	n/a	chr9:15592514-15592529 chr9:15592518-15592529 chr9:15592519-15592530 chr9:15592519-15592530 chr9:15592517-15592531 chr9:15592514-15592530
19	MAFK	chr9:15588574-15588655	HepG2	liver:	n/a	n/a
20	MAFK	chr9:15592461-15592659	Hela-S3	cervix:	n/a	chr9:15592514-15592529 chr9:15592518-15592529 chr9:15592519-15592530 chr9:15592519-15592530 chr9:15592517-15592531 chr9:15592514-15592530
21	MAFK	chr9:15592350-15592682	IMR90	lung:	n/a	chr9:15592514-15592529 chr9:15592518-15592529 chr9:15592519-15592530 chr9:15592519-15592530 chr9:15592517-15592531 chr9:15592514-15592530
22	MAFK	chr9:15592346-15592687	HepG2	liver:	n/a	chr9:15592514-15592529 chr9:15592518-15592529 chr9:15592519-15592530 chr9:15592519-15592530 chr9:15592517-15592531 chr9:15592514-15592530
23	MAFK	chr9:15588501-15588764	HepG2	liver:	n/a	n/a
24	MAZ	chr9:15570573-15570592	GM12878	blood:	n/a	n/a
25	MXI1	chr9:15570541-15570578	H1-hESC	embryonic stem cell:	n/a	n/a
26	MYC	chr9:15576929-15577012	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr9:15580808-15580974	ProgFib	skin:	n/a	n/a
28	RFX5	chr9:15578707-15579332	IMR90	lung:	n/a	n/a
29	SPI1	chr9:15580885-15581065	GM12878	blood:	n/a	n/a
30	SPI1	chr9:15580827-15581188	GM12891	blood:	n/a	n/a
31	SPI1	chr9:15580882-15581087	GM12891	blood:	n/a	n/a
32	SPI1	chr9:15580904-15581027	K562	blood:	n/a	n/a
33	USF1	chr9:15584372-15584705	H1-hESC	embryonic stem cell:	n/a	n/a
34	USF1	chr9:15584403-15584668	H1-hESC	embryonic stem cell:	n/a	n/a
35	USF2	chr9:15584455-15584636	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:15570769..15573187-chr9:15586351..15588425,2	MCF-7	breast:

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

Variant related genes	Relation type
HMGN2P16	TF binding region
ENSG00000231376	chromatin interactions

Extended variants
information (count: 1549 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1549 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188944496	chr9:15565679-15565680	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527897587	chr9:15565680-15565681	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78274762	chr9:15565690-15565691	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78105175	chr9:15565721-15565722	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561469712	chr9:15565726-15565727	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528984068	chr9:15565731-15565732	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550145549	chr9:15565810-15565811	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568875413	chr9:15565888-15565889	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533032115	chr9:15565893-15565894	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35021016	chr9:15565899-15565900	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34873546	chr9:15565911-15565912	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34499716	chr9:15565921-15565922	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551661968	chr9:15565924-15565925	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373595627	chr9:15565953-15565954	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181353191	chr9:15565962-15565963	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533997112	chr9:15566004-15566005	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10962070	chr9:15566017-15566018	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs80294676	chr9:15566027-15566028	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538381129	chr9:15566033-15566034	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141712848	chr9:15566041-15566042	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78846031	chr9:15566053-15566054	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34285475	chr9:15566055-15566056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34185088	chr9:15566092-15566093	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577975162	chr9:15566095-15566096	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs415157	chr9:15566103-15566104	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs374397987	chr9:15566116-15566117	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572519978	chr9:15566160-15566161	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542792756	chr9:15566161-15566162	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150592748	chr9:15566164-15566165	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573392718	chr9:15566170-15566171	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186487526	chr9:15566182-15566183	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200049998	chr9:15566193-15566194	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373735524	chr9:15566194-15566195	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373731347	chr9:15566195-15566196	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77870058	chr9:15566204-15566205	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199700701	chr9:15566206-15566207	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532957469	chr9:15566207-15566208	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs381205	chr9:15566222-15566223	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs191370796	chr9:15566233-15566234	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560371273	chr9:15566260-15566261	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139607299	chr9:15566305-15566306	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143459932	chr9:15566345-15566346	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567510993	chr9:15566350-15566351	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113757793	chr9:15566401-15566402	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182730947	chr9:15566425-15566426	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373694926	chr9:15566449-15566450	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186072875	chr9:15566507-15566508	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539055538	chr9:15566555-15566556	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373782496	chr9:15566568-15566569	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190906786	chr9:15566570-15566571	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:15553800-15576200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr9:15553800-15580600	Weak transcription	Ovary	ovary
3	chr9:15553800-15592600	Weak transcription	Left Ventricle	heart
4	chr9:15554000-15590200	Weak transcription	Fetal Stomach	stomach
5	chr9:15554400-15579400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr9:15554600-15580800	Weak transcription	Brain Anterior Caudate	brain
7	chr9:15561800-15570000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr9:15562200-15588200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr9:15562400-15570400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr9:15562400-15583800	Weak transcription	Thymus	Thymus
11	chr9:15563800-15569400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr9:15565000-15578800	Weak transcription	Fetal Thymus	thymus
13	chr9:15569400-15572400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr9:15570000-15570600	Strong transcription	Primary hematopoietic stem cells	blood
15	chr9:15570400-15571000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr9:15570600-15574800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr9:15571000-15574600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr9:15572200-15573200	Enhancers	Fetal Lung	lung
19	chr9:15572400-15580800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr9:15573200-15576600	Weak transcription	Fetal Lung	lung
21	chr9:15574600-15580000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr9:15574800-15579400	Strong transcription	Primary hematopoietic stem cells	blood
23	chr9:15576200-15576800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr9:15576200-15577000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr9:15576200-15577200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr9:15576600-15577000	Enhancers	Fetal Lung	lung
27	chr9:15576800-15578600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr9:15577000-15578800	Weak transcription	Fetal Lung	lung
29	chr9:15578400-15579200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr9:15578600-15578800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr9:15578600-15580000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr9:15578800-15579000	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr9:15578800-15579200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr9:15578800-15579200	Enhancers	Fetal Lung	lung
35	chr9:15578800-15580400	Strong transcription	Fetal Thymus	thymus
36	chr9:15579000-15579200	Enhancers	Fetal Kidney	kidney
37	chr9:15579400-15590200	Weak transcription	Primary hematopoietic stem cells	blood
38	chr9:15580000-15587000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr9:15580000-15587600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr9:15580400-15581000	Weak transcription	Fetal Thymus	thymus
41	chr9:15580800-15582200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr9:15581000-15581600	Strong transcription	Fetal Thymus	thymus
43	chr9:15581600-15583000	Weak transcription	Fetal Thymus	thymus
44	chr9:15582200-15583200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr9:15583000-15583400	ZNF genes & repeats	Fetal Thymus	thymus
46	chr9:15583200-15584400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr9:15583400-15584800	Enhancers	Fetal Thymus	thymus
48	chr9:15583600-15584800	Enhancers	Placenta	Placenta
49	chr9:15583800-15586000	Enhancers	Thymus	Thymus
50	chr9:15584000-15585000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links