Variant report

Variant	nsv525510
Chromosome Location	chr9:21481556-21484695
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	E2F4	chr9:21481091-21481684	MCF10A-Er-Src	breast:	n/a	n/a
2	MAFK	chr9:21483363-21483370	HepG2	liver:	n/a	n/a
3	MAFK	chr9:21483339-21483575	HepG2	liver:	n/a	n/a
4	POLR2A	chr9:21482613-21482811	ProgFib	skin:	n/a	n/a
5	SPI1	chr9:21481659-21482149	HL-60	blood:	n/a	chr9:21481914-21481927
6	SPI1	chr9:21481708-21482070	HL-60	blood:	n/a	chr9:21481914-21481927
7	SPI1	chr9:21481779-21481976	GM12878	blood:	n/a	chr9:21481914-21481927

Variant related genes	Relation type
IFNE	TF binding region

Extended variants
information (count: 138 )
Associated
traits (count: 153 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1125488	chr9:21481556-21481557	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs112027420	chr9:21481566-21481567	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs143829129	chr9:21481580-21481581	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs199881525	chr9:21481619-21481620	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs187615821	chr9:21481630-21481631	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs201106383	chr9:21481642-21481643	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs376457935	chr9:21481654-21481655	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs369742658	chr9:21481664-21481665	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs372584625	chr9:21481667-21481668	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs147255335	chr9:21481724-21481725	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs556658669	chr9:21481726-21481727	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs190368581	chr9:21481728-21481729	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs545220944	chr9:21481770-21481771	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs564299596	chr9:21481794-21481795	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs532993520	chr9:21481813-21481814	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs546734038	chr9:21481868-21481869	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs540477357	chr9:21482001-21482002	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182964858	chr9:21482077-21482078	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs10125074	chr9:21482089-21482090	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs201968293	chr9:21482123-21482124	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs34814436	chr9:21482125-21482126	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs397819775	chr9:21482126-21482127	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548554615	chr9:21482179-21482180	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2039380	chr9:21482181-21482182	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs140795364	chr9:21482185-21482186	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs34533918	chr9:21482239-21482240	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs3028326	chr9:21482240-21482241	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs397894161	chr9:21482242-21482243	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373745100	chr9:21482244-21482245	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551226982	chr9:21482257-21482258	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571770831	chr9:21482334-21482335	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs10811549	chr9:21482351-21482352	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs185302379	chr9:21482397-21482398	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144694040	chr9:21482400-21482401	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs75140720	chr9:21482409-21482410	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs370999269	chr9:21482432-21482433	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545444801	chr9:21482441-21482442	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113164481	chr9:21482475-21482476	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545953852	chr9:21482491-21482492	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148549766	chr9:21482518-21482519	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs142924943	chr9:21482519-21482520	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs190065161	chr9:21482536-21482537	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573579493	chr9:21482545-21482546	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542559115	chr9:21482546-21482547	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183450626	chr9:21482586-21482587	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs72703415	chr9:21482605-21482606	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs187519967	chr9:21482612-21482613	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551407173	chr9:21482635-21482636	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs375470042	chr9:21482653-21482654	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs573116793	chr9:21482665-21482666	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:153)

Disease	PMID	Source
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
Oral squamous cell carcinoma	17134496	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
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	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
Chronic myeloid leukemia	21384125	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
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Cancer	22183965	CNVD
Glioblastoma multiforme	21569311	CNVD
Myelofibrosis	22110671	CNVD
Ewing''s sarcoma	22429812	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung cancer	21911935	CNVD
Primary central nervous system lymphoma	21088137	CNVD
head and neck squamous cell carcinoma	21798897	CNVD
Cancer	21253487	CNVD
Glioblastoma multiforme	22286061	CNVD
Intracranial ependymoma	16609018	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Urothelial cell carcinoma	18451213	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Leukemia	19602459	CNVD
Acute monocytic leukemia	16498392	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Leukemia	18688285	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Acute myeloid leukemia	19651601	CNVD
Coronary Disease	20032323	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21732550	CNVD
Gastric cancer	22539939	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Metastatic melanoma	18483359	CNVD
Non-small cell lung cancer	20864512	CNVD
Cervical cancer	21062161	CNVD
Acute myeloid leukemia	16864856	CNVD
Glioblastoma	17090523	CNVD
Lung cancer	16773561	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16774939	CNVD
Bladder cancer	19088036	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	16977458	CNVD
Glioblastoma multiforme	17369134	CNVD
Chagasic megaesophagus	20163722	CNVD
Melanoma	19566914	CNVD
Squamous cell cancer	19047905	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Glioma	20126413	CNVD
Melanoma	17363583	CNVD
Glioblastoma multiforme	19115005	CNVD
Glioblastoma multiforme	21525872	CNVD
Glioblastoma multiforme	21138945	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Cancer	20581869	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
Oral cancer	22144094	CNVD
Lung cancer	21569311	CNVD
Epilepsy	20502679	CNVD
Barrett''s syndrome	19417022	CNVD
Pancreatic cancer	21811587	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21454800-21481600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr9:21463000-21502200	Weak transcription	HSMM	muscle
3	chr9:21466000-21527600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr9:21471600-21505600	Weak transcription	HUVEC	blood vessel
5	chr9:21475000-21485600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr9:21477000-21505800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr9:21477600-21482600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr9:21478800-21487200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr9:21479000-21481800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr9:21479600-21505000	Weak transcription	NHLF	lung
11	chr9:21480400-21481800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr9:21480600-21483000	Strong transcription	Osteobl	bone
13	chr9:21480600-21483200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr9:21481000-21481800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr9:21481000-21481800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr9:21481000-21481800	Strong transcription	NHDF-Ad	bronchial
17	chr9:21481000-21482000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr9:21481000-21482000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr9:21481000-21482000	Strong transcription	NH-A	brain
20	chr9:21481000-21482000	Strong transcription	NHEK	skin
21	chr9:21481000-21483200	Strong transcription	Muscle Satellite Cultured Cells	--
22	chr9:21481000-21483200	Strong transcription	HMEC	breast
23	chr9:21481200-21481600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr9:21481200-21481600	Strong transcription	A549	lung
25	chr9:21481200-21481800	Enhancers	Primary B cells from cord blood	blood
26	chr9:21481200-21481800	Enhancers	Gastric	stomach
27	chr9:21481200-21481800	Enhancers	Stomach Mucosa	stomach
28	chr9:21481200-21482000	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr9:21481200-21482000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr9:21481400-21481600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr9:21481400-21481600	Enhancers	Primary hematopoietic stem cells	blood
32	chr9:21481400-21481800	Enhancers	Primary B cells from peripheral blood	blood
33	chr9:21481400-21481800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr9:21481400-21481800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr9:21481400-21482000	Enhancers	GM12878-XiMat	blood
36	chr9:21481600-21481800	Flanking Active TSS	Primary hematopoietic stem cells	blood
37	chr9:21481600-21481800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr9:21481600-21482600	Weak transcription	A549	lung
39	chr9:21481600-21483000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr9:21481800-21482000	Active TSS	Primary hematopoietic stem cells	blood
41	chr9:21481800-21482000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr9:21481800-21494400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr9:21481800-21500000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr9:21481800-21504800	Weak transcription	NHDF-Ad	bronchial
45	chr9:21481800-21505000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr9:21482000-21482600	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr9:21482000-21487800	Weak transcription	NH-A	brain
48	chr9:21482000-21504800	Weak transcription	NHEK	skin
49	chr9:21482600-21483000	Strong transcription	A549	lung
50	chr9:21482600-21483200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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