Variant report

Variant	nsv1033892
Chromosome Location	chr9:17734224-17757581
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:147)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:147 , 50 per page) page: 1 2 3

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	chr9:17734741-17734980	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr9:17734858-17734892	HepG2	liver:	n/a	n/a
4	CREB1	chr9:17742071-17742365	H1-hESC	embryonic stem cell:	n/a	n/a
5	CREB1	chr9:17742042-17742527	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr9:17742200-17742350	A549	lung:	n/a	n/a
7	CTCF	chr9:17742160-17742310	NHEK	skin:	n/a	n/a
8	CTCF	chr9:17742240-17742390	BE2_C	brain:	n/a	n/a
9	CTCF	chr9:17742180-17742330	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr9:17742148-17742385	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr9:17742060-17742210	HFF-Myc	foreskin:	n/a	n/a
12	CTCF	chr9:17742140-17742290	HRE	kidney:	n/a	n/a
13	CTCF	chr9:17742120-17742270	HBMEC	blood vessel:	n/a	n/a
14	CTCF	chr9:17742236-17742351	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr9:17744480-17744630	GM12868	blood:	n/a	n/a
16	CTCF	chr9:17742140-17742290	HFF	foreskin:	n/a	n/a
17	CTCF	chr9:17742220-17742370	BJ	skin:	n/a	n/a
18	CTCF	chr9:17742200-17742350	HFF-Myc	foreskin:	n/a	n/a
19	CTCF	chr9:17742223-17742330	Fibrobl	skin:	n/a	n/a
20	CTCF	chr9:17742245-17742330	A549	lung:	n/a	n/a
21	CTCF	chr9:17742160-17742310	HMF	breast:	n/a	n/a
22	CTCF	chr9:17742200-17742350	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr9:17742100-17742250	HPAF	blood vessel:	n/a	n/a
24	CTCF	chr9:17742120-17742270	MCF-7	breast:	n/a	n/a
25	CTCF	chr9:17742220-17742370	HEK293	kidney:	n/a	n/a
26	CTCF	chr9:17742009-17742399	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr9:17742160-17742310	HCT-116	colon:	n/a	n/a
28	CTCF	chr9:17742220-17742370	RPTEC	kidney:	n/a	n/a
29	CTCF	chr9:17742180-17742330	WERI-Rb-1	eye:	n/a	n/a
30	CTCF	chr9:17742200-17742350	WERI-Rb-1	eye:	n/a	n/a
31	CTCF	chr9:17742180-17742330	SK-N-SH_RA	brain:	n/a	n/a
32	CTCF	chr9:17742160-17742310	HPF	lung:	n/a	n/a
33	CTCF	chr9:17742140-17742290	HA-sp	spinal cord:	n/a	n/a
34	CTCF	chr9:17742140-17742290	HBMEC	blood vessel:	n/a	n/a
35	CTCF	chr9:17742175-17742363	Gliobla	brain:	n/a	n/a
36	CTCF	chr9:17742180-17742330	RPTEC	kidney:	n/a	n/a
37	CTCF	chr9:17742235-17742315	ProgFib	skin:	n/a	n/a
38	CTCF	chr9:17742180-17742306	HepG2	liver:	n/a	n/a
39	CTCF	chr9:17742200-17742350	BJ	skin:	n/a	n/a
40	CTCF	chr9:17742160-17742310	HRPEpiC	eye:	n/a	n/a
41	CTCF	chr9:17742140-17742290	HCFaa	heart:	n/a	n/a
42	CTCF	chr9:17742160-17742310	HMEC	breast:	n/a	n/a
43	CTCF	chr9:17742200-17742350	HEK293	kidney:	n/a	n/a
44	CTCF	chr9:17742160-17742310	AG09319	gingival:	n/a	n/a
45	CTCF	chr9:17742200-17742350	BE2_C	brain:	n/a	n/a
46	CTCF	chr9:17748980-17749130	GM12869	blood:	n/a	n/a
47	CTCF	chr9:17742100-17742250	AG09309	skin:	n/a	n/a
48	CTCF	chr9:17742180-17742330	SAEC	small airway:	n/a	n/a
49	CTCF	chr9:17752876-17752965	Kidney_OC	kidney:	n/a	n/a
50	CTCF	chr9:17742200-17742350	NHEK	skin:	n/a	n/a

No data

Variant related genes	Relation type
SH3GL2	TF binding region

Extended variants
information (count: 1063 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1063 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10963233	chr9:17734771-17734772	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs116013194	chr9:17734786-17734787	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs10963234	chr9:17734788-17734789	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs541217601	chr9:17734809-17734810	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs138340657	chr9:17734864-17734865	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs4961590	chr9:17734890-17734891	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs186935891	chr9:17734907-17734908	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs4961445	chr9:17734938-17734939	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs551936219	chr9:17734952-17734953	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs190870072	chr9:17734966-17734967	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs534853810	chr9:17734969-17734970	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs546811446	chr9:17734972-17734973	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs373855188	chr9:17734985-17734986	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs115039606	chr9:17734997-17734998	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs562695408	chr9:17735004-17735005	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs183239834	chr9:17735015-17735016	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs554972152	chr9:17735041-17735042	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs572775683	chr9:17735053-17735054	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs542069776	chr9:17735068-17735069	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs4961446	chr9:17735083-17735084	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs537561940	chr9:17735090-17735091	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs546724239	chr9:17735102-17735103	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs138576156	chr9:17735601-17735602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557406954	chr9:17735607-17735608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs149290271	chr9:17735634-17735635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545840105	chr9:17735677-17735678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565955677	chr9:17735701-17735702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2383044	chr9:17735707-17735708	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs528218279	chr9:17735713-17735714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs75865686	chr9:17735723-17735724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561931441	chr9:17735729-17735730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529117183	chr9:17735737-17735738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558060114	chr9:17735760-17735761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535466442	chr9:17735767-17735768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182870033	chr9:17735773-17735774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573206217	chr9:17735806-17735807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569087192	chr9:17735830-17735831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533040904	chr9:17735833-17735834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552167659	chr9:17735834-17735835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547342695	chr9:17735836-17735837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs372143472	chr9:17735843-17735844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570484507	chr9:17735844-17735845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs144555973	chr9:17735848-17735849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147997030	chr9:17735859-17735860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs142461275	chr9:17735864-17735865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535720052	chr9:17735865-17735866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs4515654	chr9:17735870-17735871	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs575865443	chr9:17735901-17735902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs1536066	chr9:17735905-17735906	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs372462000	chr9:17735933-17735934	Enhancers	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
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
Ovarian cancer	19835627	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17735600-17736400	Enhancers	Fetal Brain Male	brain
2	chr9:17736400-17737600	Weak transcription	Fetal Brain Male	brain
3	chr9:17737600-17737800	Enhancers	Fetal Brain Male	brain
4	chr9:17737800-17738400	Weak transcription	Fetal Brain Male	brain
5	chr9:17738400-17740000	Enhancers	Fetal Brain Male	brain
6	chr9:17739200-17741800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr9:17741200-17742400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr9:17741600-17742200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr9:17741800-17742200	Enhancers	H9 Cell Line	embryonic stem cell
10	chr9:17741800-17742200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr9:17741800-17742200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr9:17741800-17742400	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr9:17741800-17742600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr9:17741800-17742600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr9:17742200-17742400	Enhancers	Gastric	stomach
16	chr9:17742400-17742800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr9:17742800-17743000	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr9:17743000-17743800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr9:17743800-17744000	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr9:17744000-17750200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr9:17744800-17745000	Enhancers	Gastric	stomach
22	chr9:17749400-17750200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr9:17750000-17750800	Enhancers	Brain Germinal Matrix	brain
24	chr9:17750200-17750800	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr9:17750800-17751800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr9:17752000-17752200	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr9:17754800-17772600	Weak transcription	Hela-S3	cervix
28	chr9:17757400-17757800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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