Variant report

Variant	nsv1019424
Chromosome Location	chr9:17049320-17081683
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	ARID3A	chr9:17057789-17058149	HepG2	liver:	n/a	n/a
2	BATF	chr9:17057808-17058032	GM12878	blood:	n/a	n/a
3	BHLHE40	chr9:17057793-17058031	HepG2	liver:	n/a	n/a
4	CEBPB	chr9:17057772-17058066	HepG2	liver:	n/a	n/a
5	CTCF	chr9:17051020-17051170	AoAF	blood vessel:	n/a	n/a
6	CTCF	chr9:17063660-17063810	HFF-Myc	foreskin:	n/a	chr9:17063734-17063742 chr9:17063729-17063747 chr9:17063731-17063752 chr9:17063730-17063746
7	CTCF	chr9:17075760-17075910	SK-N-SH_RA	brain:	n/a	n/a
8	CTCF	chr9:17063539-17063848	T-47D	breast:	n/a	chr9:17063734-17063742 chr9:17063729-17063747 chr9:17063731-17063752 chr9:17063730-17063746
9	CTCF	chr9:17075680-17075830	HPAF	blood vessel:	n/a	n/a
10	CTCF	chr9:17063602-17063866	LNCaP	prostate:	n/a	chr9:17063734-17063742 chr9:17063729-17063747 chr9:17063731-17063752 chr9:17063730-17063746
11	CTCF	chr9:17063640-17063790	HCPEpiC	choroid plexus:	n/a	chr9:17063734-17063742 chr9:17063729-17063747 chr9:17063731-17063752 chr9:17063730-17063746
12	CTCF	chr9:17063660-17063810	AG09319	gingival:	n/a	chr9:17063734-17063742 chr9:17063729-17063747 chr9:17063731-17063752 chr9:17063730-17063746
13	CTCF	chr9:17063700-17063850	MCF-7	breast:	n/a	chr9:17063734-17063742 chr9:17063729-17063747 chr9:17063731-17063752 chr9:17063730-17063746
14	CTCF	chr9:17063100-17063250	HPAF	blood vessel:	n/a	n/a
15	CTCF	chr9:17063640-17063790	A549	lung:	n/a	chr9:17063734-17063742 chr9:17063729-17063747 chr9:17063731-17063752 chr9:17063730-17063746
16	CTCF	chr9:17063560-17063710	HCM	heart:	n/a	n/a
17	CTCF	chr9:17063472-17064019	MCF-7	breast:	n/a	chr9:17063734-17063742 chr9:17063729-17063747 chr9:17063731-17063752 chr9:17063730-17063746
18	CTCF	chr9:17063640-17063790	HPAF	blood vessel:	n/a	chr9:17063734-17063742 chr9:17063729-17063747 chr9:17063731-17063752 chr9:17063730-17063746
19	CTCF	chr9:17062920-17063070	HCFaa	heart:	n/a	n/a
20	CTCF	chr9:17063660-17063810	HBMEC	blood vessel:	n/a	chr9:17063734-17063742 chr9:17063729-17063747 chr9:17063731-17063752 chr9:17063730-17063746
21	CTCF	chr9:17063680-17063830	NB4	blood:	n/a	chr9:17063734-17063742 chr9:17063729-17063747 chr9:17063731-17063752 chr9:17063730-17063746
22	CTCF	chr9:17054020-17054170	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr9:17063597-17063879	H1-hESC	embryonic stem cell:	n/a	chr9:17063734-17063742 chr9:17063729-17063747 chr9:17063731-17063752 chr9:17063730-17063746
24	CTCF	chr9:17054060-17054210	HMF	breast:	n/a	n/a
25	CTCF	chr9:17052922-17053001	Fibrobl	skin:	n/a	n/a
26	CTCF	chr9:17063660-17063810	AG09309	skin:	n/a	chr9:17063734-17063742 chr9:17063729-17063747 chr9:17063731-17063752 chr9:17063730-17063746
27	CTCF	chr9:17063680-17063830	NHDF-neo	bronchial:	n/a	chr9:17063734-17063742 chr9:17063729-17063747 chr9:17063731-17063752 chr9:17063730-17063746
28	CTCF	chr9:17063660-17063810	HPAF	blood vessel:	n/a	chr9:17063734-17063742 chr9:17063729-17063747 chr9:17063731-17063752 chr9:17063730-17063746
29	CTCF	chr9:17063680-17063830	AG04450	lung:	n/a	chr9:17063734-17063742 chr9:17063729-17063747 chr9:17063731-17063752 chr9:17063730-17063746
30	CTCF	chr9:17054060-17054210	GM12869	blood:	n/a	n/a
31	CTCF	chr9:17075740-17075890	RPTEC	kidney:	n/a	n/a
32	CTCF	chr9:17075700-17075850	HEK293	kidney:	n/a	n/a
33	CTCF	chr9:17063625-17063855	GM19239	blood:	n/a	chr9:17063734-17063742 chr9:17063729-17063747 chr9:17063731-17063752 chr9:17063730-17063746
34	CTCF	chr9:17063557-17063858	A549	lung:	n/a	chr9:17063734-17063742 chr9:17063729-17063747 chr9:17063731-17063752 chr9:17063730-17063746
35	CTCF	chr9:17054080-17054230	RPTEC	kidney:	n/a	n/a
36	CTCF	chr9:17053920-17054070	HEK293	kidney:	n/a	n/a
37	CTCF	chr9:17063040-17063190	AG09319	gingival:	n/a	n/a
38	CTCF	chr9:17075680-17075830	A549	lung:	n/a	n/a
39	CTCF	chr9:17063577-17063913	A549	lung:	n/a	chr9:17063734-17063742 chr9:17063729-17063747 chr9:17063731-17063752 chr9:17063730-17063746
40	CTCF	chr9:17053980-17054130	SK-N-SH_RA	brain:	n/a	n/a
41	CTCF	chr9:17063060-17063210	WI-38	lung:	n/a	n/a
42	CTCF	chr9:17063700-17063850	WERI-Rb-1	eye:	n/a	chr9:17063734-17063742 chr9:17063729-17063747 chr9:17063731-17063752 chr9:17063730-17063746
43	CTCF	chr9:17075740-17075890	BJ	skin:	n/a	n/a
44	CTCF	chr9:17075820-17075970	GM12867	blood:	n/a	n/a
45	CTCF	chr9:17063660-17063810	GM12801	blood:	n/a	chr9:17063734-17063742 chr9:17063729-17063747 chr9:17063731-17063752 chr9:17063730-17063746
46	CTCF	chr9:17063601-17063871	Hela-S3	cervix:	n/a	chr9:17063734-17063742 chr9:17063729-17063747 chr9:17063731-17063752 chr9:17063730-17063746
47	CTCF	chr9:17063680-17063830	Hela-S3	cervix:	n/a	chr9:17063734-17063742 chr9:17063729-17063747 chr9:17063731-17063752 chr9:17063730-17063746
48	CTCF	chr9:17063519-17063894	HCT-116	colon:	n/a	chr9:17063734-17063742 chr9:17063729-17063747 chr9:17063731-17063752 chr9:17063730-17063746
49	CTCF	chr9:17063620-17063770	HCM	heart:	n/a	chr9:17063734-17063742 chr9:17063729-17063747 chr9:17063731-17063752 chr9:17063730-17063746
50	CTCF	chr9:17063660-17063810	HPF	lung:	n/a	chr9:17063734-17063742 chr9:17063729-17063747 chr9:17063731-17063752 chr9:17063730-17063746

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:17063303..17064146-chr9:17462547..17463504,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CNTLN-4	chr9:17053899-17054200	NONHSAT130298

Variant related genes	Relation type
RN7SL720P	TF binding region

Extended variants
information (count: 1361 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1361 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558592545	chr9:17049800-17049801	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs540673247	chr9:17049828-17049829	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs558981478	chr9:17049830-17049831	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs189252761	chr9:17049923-17049924	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs541775842	chr9:17049931-17049932	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs149856565	chr9:17049937-17049938	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs188940880	chr9:17051035-17051036	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs192282562	chr9:17051041-17051042	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs557693838	chr9:17051049-17051050	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs112114939	chr9:17051099-17051100	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs381680	chr9:17051103-17051104	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs558370727	chr9:17051123-17051124	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs77916824	chr9:17051135-17051136	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs540743331	chr9:17051145-17051146	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs416421	chr9:17051170-17051171	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs180784778	chr9:17051270-17051271	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs111744960	chr9:17051273-17051274	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs572062224	chr9:17051274-17051275	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs112543100	chr9:17052640-17052641	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs527268960	chr9:17052669-17052670	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs542932020	chr9:17052673-17052674	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs561202701	chr9:17052686-17052687	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs531788680	chr9:17052690-17052691	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs73416320	chr9:17052719-17052720	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs571801201	chr9:17052733-17052734	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs532530615	chr9:17052745-17052746	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs185394901	chr9:17052809-17052810	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs547845833	chr9:17052810-17052811	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs571380107	chr9:17052841-17052842	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs190275851	chr9:17052939-17052940	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs111252149	chr9:17052947-17052948	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs555703577	chr9:17052970-17052971	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs567612451	chr9:17052973-17052974	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs144229478	chr9:17052979-17052980	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs556121087	chr9:17052991-17052992	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs577746439	chr9:17053037-17053038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564348905	chr9:17053060-17053061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553798763	chr9:17053070-17053071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571720993	chr9:17053078-17053079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs542167214	chr9:17053092-17053093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs428518	chr9:17053112-17053113	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs193268997	chr9:17053134-17053135	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs35706026	chr9:17053156-17053157	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs184144211	chr9:17053224-17053225	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs565365694	chr9:17053226-17053227	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs76590722	chr9:17053235-17053236	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs377021186	chr9:17053251-17053252	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs547590908	chr9:17053290-17053291	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs188301866	chr9:17053298-17053299	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs146516074	chr9:17053302-17053303	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17052800-17053200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:17053200-17062600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:17057400-17058400	Enhancers	Fetal Intestine Large	intestine
4	chr9:17057600-17058200	Enhancers	Duodenum Mucosa	Duodenum
5	chr9:17057600-17058200	Enhancers	Fetal Intestine Small	intestine
6	chr9:17057600-17058200	Enhancers	HepG2	liver
7	chr9:17058000-17058400	Enhancers	Stomach Mucosa	stomach
8	chr9:17058400-17062200	Weak transcription	Fetal Intestine Large	intestine
9	chr9:17059800-17060400	Enhancers	Adipose Nuclei	Adipose
10	chr9:17060200-17061000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr9:17062200-17062800	Enhancers	Fetal Intestine Small	intestine
12	chr9:17062200-17063200	Enhancers	Fetal Intestine Large	intestine
13	chr9:17062600-17062800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr9:17064400-17065200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr9:17064600-17064800	Enhancers	A549	lung
16	chr9:17064600-17066200	Enhancers	HUVEC	blood vessel
17	chr9:17064800-17065000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr9:17064800-17065400	Enhancers	Liver	Liver
19	chr9:17065000-17065400	Enhancers	Osteobl	bone
20	chr9:17065000-17078200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr9:17065200-17065400	Enhancers	Fetal Intestine Large	intestine
22	chr9:17068600-17069000	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr9:17075000-17075800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr9:17075600-17076000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr9:17075600-17076800	Enhancers	Fetal Kidney	kidney
26	chr9:17076000-17076600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr9:17076600-17081600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr9:17076800-17081800	Weak transcription	Fetal Kidney	kidney
29	chr9:17078200-17078400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr9:17078400-17078800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr9:17078800-17079000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr9:17079000-17081800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr9:17081200-17081600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr9:17081200-17082800	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr9:17081400-17081800	Enhancers	Fetal Lung	lung
36	chr9:17081400-17082800	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr9:17081400-17083000	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr9:17081600-17082600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr9:17081600-17083000	Enhancers	H1 Cell Line	embryonic stem cell
40	chr9:17081600-17083000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr9:17081600-17083000	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr9:17081600-17083400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr9:17081600-17083400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr9:17081600-17083400	Enhancers	Muscle Satellite Cultured Cells	--

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