Variant report

Variant	nsv892675
Chromosome Location	chr9:17694823-17790526
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	ATF2	chr9:17741979-17742453	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr9:17772253-17772603	ECC-1	luminal epithelium:	n/a	chr9:17772409-17772420
3	CEBPB	chr9:17782736-17783111	HepG2	liver:	n/a	chr9:17782917-17782928
4	CEBPB	chr9:17782739-17783093	K562	blood:	n/a	chr9:17782917-17782928
5	CEBPB	chr9:17719628-17719787	HepG2	liver:	n/a	chr9:17719741-17719752
6	CEBPB	chr9:17782817-17782944	HepG2	liver:	n/a	chr9:17782917-17782928
7	CEBPB	chr9:17772235-17772603	HepG2	liver:	n/a	chr9:17772409-17772420
8	CEBPB	chr9:17782760-17783122	MCF-7	breast:	n/a	chr9:17782917-17782928
9	CEBPB	chr9:17772230-17772596	H1-hESC	embryonic stem cell:	n/a	chr9:17772409-17772420
10	CEBPB	chr9:17772245-17772602	Hela-S3	cervix:	n/a	chr9:17772409-17772420
11	CEBPB	chr9:17772244-17772602	IMR90	lung:	n/a	chr9:17772409-17772420
12	CEBPB	chr9:17734741-17734980	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr9:17719599-17719827	IMR90	lung:	n/a	chr9:17719741-17719752
14	CEBPB	chr9:17782751-17783101	Hela-S3	cervix:	n/a	chr9:17782917-17782928
15	CEBPB	chr9:17782780-17783064	HepG2	liver:	n/a	chr9:17782917-17782928
16	CEBPB	chr9:17782732-17783112	A549	lung:	n/a	chr9:17782917-17782928
17	CEBPB	chr9:17782694-17783044	A549	lung:	n/a	chr9:17782917-17782928
18	CEBPB	chr9:17772230-17772714	A549	lung:	n/a	chr9:17772409-17772420
19	CEBPB	chr9:17782779-17783117	ECC-1	luminal epithelium:	n/a	chr9:17782917-17782928
20	CEBPB	chr9:17782739-17783101	H1-hESC	embryonic stem cell:	n/a	chr9:17782917-17782928
21	CEBPB	chr9:17772285-17772602	A549	lung:	n/a	chr9:17772409-17772420
22	CEBPB	chr9:17772240-17772598	K562	blood:	n/a	chr9:17772409-17772420
23	CEBPB	chr9:17782735-17783104	IMR90	lung:	n/a	chr9:17782917-17782928
24	CEBPB	chr9:17772274-17772617	ECC-1	luminal epithelium:	n/a	chr9:17772409-17772420
25	CEBPB	chr9:17719692-17719825	A549	lung:	n/a	chr9:17719741-17719752
26	CEBPB	chr9:17734858-17734892	HepG2	liver:	n/a	n/a
27	CEBPB	chr9:17782643-17783226	A549	lung:	n/a	chr9:17782917-17782928
28	CREB1	chr9:17742042-17742527	H1-hESC	embryonic stem cell:	n/a	n/a
29	CREB1	chr9:17742071-17742365	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr9:17742200-17742350	BE2_C	brain:	n/a	n/a
31	CTCF	chr9:17742148-17742385	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr9:17742160-17742310	HCT-116	colon:	n/a	n/a
33	CTCF	chr9:17758000-17758150	RPTEC	kidney:	n/a	chr9:17758014-17758027
34	CTCF	chr9:17699018-17699090	Fibrobl	skin:	n/a	n/a
35	CTCF	chr9:17742160-17742310	HMF	breast:	n/a	n/a
36	CTCF	chr9:17742200-17742350	HEK293	kidney:	n/a	n/a
37	CTCF	chr9:17742200-17742350	BJ	skin:	n/a	n/a
38	CTCF	chr9:17742140-17742290	HFF	foreskin:	n/a	n/a
39	CTCF	chr9:17742009-17742399	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr9:17742245-17742330	A549	lung:	n/a	n/a
41	CTCF	chr9:17742180-17742330	SK-N-SH_RA	brain:	n/a	n/a
42	CTCF	chr9:17742200-17742350	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr9:17731520-17731670	GM12871	blood:	n/a	n/a
44	CTCF	chr9:17782540-17782690	HRPEpiC	eye:	n/a	n/a
45	CTCF	chr9:17742160-17742310	AG09319	gingival:	n/a	n/a
46	CTCF	chr9:17742140-17742290	HA-sp	spinal cord:	n/a	n/a
47	CTCF	chr9:17742220-17742370	BJ	skin:	n/a	n/a
48	CTCF	chr9:17758351-17758391	Kidney_OC	kidney:	n/a	n/a
49	CTCF	chr9:17742200-17742350	A549	lung:	n/a	n/a
50	CTCF	chr9:17742120-17742270	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:74564419..74565369-chr9:17774545..17775065,2	K562	blood:

Variant related genes	Relation type
SH3GL2	TF binding region

Extended variants
information (count: 3482 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:3482 , 50 per page) page: 1 2 3 4 5 6 7 ... 70

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3808708	chr9:17694823-17694824	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571471598	chr9:17694828-17694829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540851891	chr9:17694841-17694842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs35622675	chr9:17694847-17694848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532615506	chr9:17694878-17694879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548019488	chr9:17694912-17694913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs3808707	chr9:17694913-17694914	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs185908911	chr9:17694922-17694923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs146569446	chr9:17694925-17694926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190826667	chr9:17694933-17694934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549828933	chr9:17694934-17694935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs77364854	chr9:17694940-17694941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144024757	chr9:17694980-17694981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183124417	chr9:17694990-17694991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs61161035	chr9:17695012-17695013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565214780	chr9:17695134-17695135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532675911	chr9:17695139-17695140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs369607359	chr9:17695179-17695180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs35595101	chr9:17695183-17695184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs144345738	chr9:17695192-17695193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148732798	chr9:17695202-17695203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536844269	chr9:17695229-17695230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs375349534	chr9:17695248-17695249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570381851	chr9:17695351-17695352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs367694351	chr9:17695355-17695356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537020499	chr9:17695365-17695366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76477980	chr9:17695388-17695389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1536069	chr9:17695450-17695451	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs73645138	chr9:17695463-17695464	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs3808705	chr9:17695514-17695515	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs574252906	chr9:17695541-17695542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182972314	chr9:17695564-17695565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563214947	chr9:17695569-17695570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs367941470	chr9:17695576-17695577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs575188235	chr9:17695592-17695593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs78314758	chr9:17695593-17695594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565323627	chr9:17695596-17695597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs3808704	chr9:17695620-17695621	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs187652633	chr9:17695646-17695647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs192505166	chr9:17695647-17695648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184925425	chr9:17695680-17695681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554024960	chr9:17695700-17695701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs76963311	chr9:17695710-17695711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192407709	chr9:17695750-17695751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs537780855	chr9:17695754-17695755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs116277249	chr9:17695757-17695758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs73645139	chr9:17695781-17695782	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs142348794	chr9:17695812-17695813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373471325	chr9:17695815-17695816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73645140	chr9:17695816-17695817	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	21364760	CNVD
Cancer	22183965	CNVD
Lung adenocarcinoma	21935476	CNVD
Thoracic aortic aneurysm	21698135	CNVD
Pancreatic cancer	21811587	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Renal cell carcinoma	21215367	CNVD
Ovarian cancer	19835627	CNVD

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17694600-17696200	Enhancers	Fetal Brain Male	brain
2	chr9:17695200-17695800	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr9:17695200-17696000	Enhancers	Fetal Lung	lung
4	chr9:17695200-17696200	Enhancers	Fetal Brain Female	brain
5	chr9:17695400-17695800	Enhancers	Brain Anterior Caudate	brain
6	chr9:17695600-17696000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr9:17695800-17699800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr9:17696200-17699400	Weak transcription	Fetal Brain Male	brain
9	chr9:17699400-17700600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr9:17699400-17700600	Enhancers	Fetal Brain Male	brain
11	chr9:17699800-17700600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr9:17699800-17701400	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr9:17706800-17707400	Enhancers	Fetal Intestine Large	intestine
14	chr9:17707200-17707600	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr9:17707400-17707800	Weak transcription	Fetal Intestine Large	intestine
16	chr9:17707600-17708400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr9:17707800-17708200	Enhancers	Fetal Intestine Large	intestine
18	chr9:17708400-17709600	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr9:17720800-17721200	Enhancers	H9 Cell Line	embryonic stem cell
20	chr9:17721000-17721200	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr9:17721800-17722400	Enhancers	Dnd41	blood
22	chr9:17722800-17723200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr9:17725600-17726400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr9:17725800-17726800	Enhancers	Liver	Liver
25	chr9:17726600-17726800	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr9:17727000-17727400	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr9:17735600-17736400	Enhancers	Fetal Brain Male	brain
28	chr9:17736400-17737600	Weak transcription	Fetal Brain Male	brain
29	chr9:17737600-17737800	Enhancers	Fetal Brain Male	brain
30	chr9:17737800-17738400	Weak transcription	Fetal Brain Male	brain
31	chr9:17738400-17740000	Enhancers	Fetal Brain Male	brain
32	chr9:17739200-17741800	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr9:17741200-17742400	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr9:17741600-17742200	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr9:17741800-17742200	Enhancers	H9 Cell Line	embryonic stem cell
36	chr9:17741800-17742200	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr9:17741800-17742200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr9:17741800-17742400	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr9:17741800-17742600	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr9:17741800-17742600	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr9:17742200-17742400	Enhancers	Gastric	stomach
42	chr9:17742400-17742800	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr9:17742800-17743000	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr9:17743000-17743800	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr9:17743800-17744000	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr9:17744000-17750200	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr9:17744800-17745000	Enhancers	Gastric	stomach
48	chr9:17749400-17750200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr9:17750000-17750800	Enhancers	Brain Germinal Matrix	brain
50	chr9:17750200-17750800	Enhancers	Pancreatic Islets	Pancreatic Islet

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