Variant report

Variant	nsv892237
Chromosome Location	chr9:8752743-8794314
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	CEBPB	chr9:8774371-8774528	A549	lung:	n/a	n/a
2	CEBPB	chr9:8765224-8765372	H1-hESC	embryonic stem cell:	n/a	chr9:8765314-8765325
3	CEBPB	chr9:8782287-8782568	A549	lung:	n/a	chr9:8782419-8782430
4	CEBPB	chr9:8782264-8782608	IMR90	lung:	n/a	chr9:8782419-8782430
5	CEBPB	chr9:8765147-8765485	IMR90	lung:	n/a	chr9:8765314-8765325
6	CEBPB	chr9:8765139-8765438	HepG2	liver:	n/a	chr9:8765314-8765325
7	CEBPB	chr9:8782263-8782583	HepG2	liver:	n/a	chr9:8782419-8782430
8	CEBPB	chr9:8775818-8775879	K562	blood:	n/a	chr9:8775851-8775862
9	CEBPB	chr9:8765144-8765459	A549	lung:	n/a	chr9:8765314-8765325
10	CEBPB	chr9:8791919-8792041	A549	lung:	n/a	n/a
11	CEBPB	chr9:8765187-8765410	K562	blood:	n/a	chr9:8765314-8765325
12	CEBPB	chr9:8782267-8782532	H1-hESC	embryonic stem cell:	n/a	chr9:8782419-8782430
13	CEBPB	chr9:8782348-8782559	K562	blood:	n/a	chr9:8782419-8782430
14	CTCF	chr9:8762825-8762950	MCF-7	breast:	n/a	n/a
15	CTCF	chr9:8762680-8762830	A549	lung:	n/a	n/a
16	CTCF	chr9:8762843-8762938	MCF-7	breast:	n/a	n/a
17	CTCF	chr9:8762808-8762956	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr9:8762740-8762890	HRE	kidney:	n/a	n/a
19	CTCF	chr9:8762780-8762930	RPTEC	kidney:	n/a	n/a
20	CTCF	chr9:8762740-8762890	Caco-2	colon:	n/a	n/a
21	CTCF	chr9:8762661-8762944	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr9:8762800-8762950	HBMEC	blood vessel:	n/a	n/a
23	CTCF	chr9:8762764-8763012	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr9:8762825-8762921	HepG2	liver:	n/a	n/a
25	CTCF	chr9:8766560-8766710	HMF	breast:	n/a	n/a
26	CTCF	chr9:8766560-8766710	RPTEC	kidney:	n/a	n/a
27	CTCF	chr9:8754030-8754079	GM20000	blood:	n/a	n/a
28	CTCF	chr9:8762760-8762910	HEK293	kidney:	n/a	n/a
29	CTCF	chr9:8762849-8762923	MCF-7	breast:	n/a	n/a
30	CTCF	chr9:8786311-8786329	GM20000	blood:	n/a	n/a
31	CTCF	chr9:8762860-8763010	RPTEC	kidney:	n/a	n/a
32	CTCF	chr9:8762794-8762926	Pancreas_OC	pancreas:	n/a	n/a
33	CTCF	chr9:8755399-8755474	GM13976	blood:	n/a	n/a
34	CTCF	chr9:8762844-8762943	A549	lung:	n/a	n/a
35	CTCF	chr9:8762780-8762930	GM12865	blood:	n/a	n/a
36	CTCF	chr9:8762807-8762953	Kidney_OC	kidney:	n/a	n/a
37	CTCF	chr9:8762840-8762990	HepG2	liver:	n/a	n/a
38	CTCF	chr9:8762780-8762930	NB4	blood:	n/a	n/a
39	E2F4	chr9:8765657-8765832	MCF10A-Er-Src	breast:	n/a	n/a
40	EP300	chr9:8785898-8786136	SK-N-SH_RA	brain:	n/a	n/a
41	FOS	chr9:8777444-8777818	MCF10A-Er-Src	breast:	n/a	chr9:8777602-8777609 chr9:8777599-8777611 chr9:8777600-8777609
42	FOS	chr9:8765150-8765337	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr9:8777502-8777783	MCF10A-Er-Src	breast:	n/a	chr9:8777602-8777609 chr9:8777599-8777611 chr9:8777600-8777609
44	FOS	chr9:8777463-8777706	MCF10A-Er-Src	breast:	n/a	chr9:8777602-8777609 chr9:8777599-8777611 chr9:8777600-8777609
45	FOXA1	chr9:8778505-8778792	HepG2	liver:	n/a	chr9:8778646-8778658
46	GATA3	chr9:8754585-8754941	SH-SY5Y	brain:	n/a	n/a
47	GATA3	chr9:8765301-8765385	SH-SY5Y	brain:	n/a	n/a
48	GATA3	chr9:8784982-8785095	SH-SY5Y	brain:	n/a	n/a
49	GATA3	chr9:8764122-8764376	SH-SY5Y	brain:	n/a	n/a
50	JUN	chr9:8765208-8765372	HepG2	liver:	n/a	chr9:8765311-8765324

Variant related genes	Relation type
RNU7-185P	TF binding region

Extended variants
information (count: 2479 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:2479 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7873178	chr9:8752743-8752744	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572653370	chr9:8752755-8752756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546390803	chr9:8752783-8752784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7846940	chr9:8752796-8752797	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs576615604	chr9:8752801-8752802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527509432	chr9:8752802-8752803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544096385	chr9:8752816-8752817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10815931	chr9:8752817-8752818	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs189658052	chr9:8752841-8752842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183391957	chr9:8752842-8752843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559396092	chr9:8752844-8752845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144213276	chr9:8752847-8752848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377750712	chr9:8752848-8752849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551121057	chr9:8752859-8752860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs386732368	chr9:8752874-8752875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6477348	chr9:8752875-8752876	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs140087908	chr9:8752878-8752879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544881310	chr9:8752888-8752889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143671013	chr9:8752898-8752899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6477349	chr9:8752941-8752942	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs146857536	chr9:8752943-8752944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577777980	chr9:8753029-8753030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376888255	chr9:8753036-8753037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538745114	chr9:8753074-8753075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6477350	chr9:8753075-8753076	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs576621163	chr9:8753095-8753096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76240979	chr9:8753128-8753129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536224190	chr9:8753150-8753151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189051764	chr9:8753177-8753178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139682798	chr9:8753187-8753188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540995685	chr9:8753212-8753213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10758991	chr9:8753285-8753286	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs192988270	chr9:8753294-8753295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551508221	chr9:8753301-8753302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142998657	chr9:8753367-8753368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6477351	chr9:8753373-8753374	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs548983976	chr9:8753387-8753388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78891376	chr9:8753395-8753396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116916040	chr9:8753396-8753397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546578884	chr9:8753399-8753400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs6477352	chr9:8753487-8753488	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs538731903	chr9:8753508-8753509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6477353	chr9:8753509-8753510	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs7861848	chr9:8753534-8753535	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs547262461	chr9:8753542-8753543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs386732369	chr9:8753567-8753568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537626379	chr9:8753571-8753572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555700669	chr9:8753572-8753573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs58121486	chr9:8753574-8753575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7033599	chr9:8753594-8753595	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:112)

Disease	PMID	Source
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Disorders of sex development	21048976	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Chronic lymphocytic leukemia	21546498	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Metastatic melanoma	18483359	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	21811587	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Lung cancer	20668451	CNVD
Schizophrenia	20838587	CNVD
Glioblastoma	18772890	CNVD
Glioblastoma multiforme	21390271	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:410 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8750000-8760000	Weak transcription	Aorta	Aorta
2	chr9:8750400-8752800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr9:8750400-8752800	Enhancers	H1 Cell Line	embryonic stem cell
4	chr9:8750400-8752800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr9:8750400-8753000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr9:8750400-8753000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr9:8750400-8753200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr9:8750400-8753600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr9:8750600-8752800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr9:8750600-8752800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr9:8750600-8753400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr9:8751000-8757800	Weak transcription	Fetal Brain Male	brain
13	chr9:8751200-8758000	Weak transcription	Brain Substantia Nigra	brain
14	chr9:8751200-8764400	Weak transcription	Fetal Stomach	stomach
15	chr9:8751400-8752800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr9:8751400-8752800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr9:8751400-8754800	Weak transcription	Brain Germinal Matrix	brain
18	chr9:8751600-8752800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr9:8751600-8752800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr9:8751800-8752800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr9:8752000-8752800	Enhancers	Ovary	ovary
22	chr9:8752200-8754400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr9:8752200-8755800	Weak transcription	Brain Hippocampus Middle	brain
24	chr9:8752200-8757800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr9:8752200-8759800	Weak transcription	Brain Anterior Caudate	brain
26	chr9:8752200-8760600	Weak transcription	Brain Angular Gyrus	brain
27	chr9:8752200-8760800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr9:8752200-8776600	Weak transcription	Fetal Muscle Trunk	muscle
29	chr9:8752400-8752800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr9:8752800-8756000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr9:8752800-8756000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr9:8752800-8756200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr9:8752800-8758000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr9:8752800-8758000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr9:8752800-8760000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr9:8752800-8769400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr9:8753000-8759800	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr9:8753200-8756400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr9:8753400-8761000	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr9:8753600-8758000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr9:8754400-8755000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr9:8754800-8755200	Enhancers	Brain Germinal Matrix	brain
43	chr9:8755000-8755800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr9:8755800-8756000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr9:8755800-8756600	Enhancers	Brain Hippocampus Middle	brain
46	chr9:8756000-8756400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr9:8756000-8756400	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr9:8756000-8756400	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr9:8756200-8756600	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr9:8756400-8757000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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