Variant report

Variant	nsv522302
Chromosome Location	chr9:7478453-7489047
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:69)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:69 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr9:7479328-7479748	MCF-7	breast:	n/a	n/a
2	CTCF	chr9:7479420-7479570	AG09319	gingival:	n/a	n/a
3	CTCF	chr9:7479520-7479670	HFF-Myc	foreskin:	n/a	n/a
4	CTCF	chr9:7479320-7479470	NHEK	skin:	n/a	n/a
5	CTCF	chr9:7479420-7479570	HAc	cerebellar:	n/a	n/a
6	CTCF	chr9:7479400-7479550	AG09309	skin:	n/a	n/a
7	CTCF	chr9:7479460-7479610	BE2_C	brain:	n/a	n/a
8	CTCF	chr9:7479420-7479570	HCM	heart:	n/a	n/a
9	CTCF	chr9:7479500-7479650	HVMF	connective:	n/a	n/a
10	CTCF	chr9:7479300-7479450	HVMF	connective:	n/a	n/a
11	CTCF	chr9:7479780-7479930	HFF-Myc	foreskin:	n/a	n/a
12	CTCF	chr9:7479500-7479650	MCF-7	breast:	n/a	n/a
13	CTCF	chr9:7479400-7479550	HMEC	breast:	n/a	n/a
14	CTCF	chr9:7479346-7479612	MCF-7	breast:	n/a	n/a
15	CTCF	chr9:7479360-7479510	NHDF-neo	bronchial:	n/a	n/a
16	CTCF	chr9:7479400-7479550	HPF	lung:	n/a	n/a
17	CTCF	chr9:7479240-7479390	HEEpiC	esophagus:	n/a	n/a
18	CTCF	chr9:7479580-7479730	GM12872	blood:	n/a	n/a
19	CTCF	chr9:7479420-7479570	HMF	breast:	n/a	n/a
20	CTCF	chr9:7479380-7479530	HEEpiC	esophagus:	n/a	n/a
21	CTCF	chr9:7479380-7479530	AG10803	skin:	n/a	n/a
22	CTCF	chr9:7479320-7479550	HFF	foreskin:	n/a	n/a
23	CTCF	chr9:7479460-7479610	MCF-7	breast:	n/a	n/a
24	CTCF	chr9:7479440-7479590	HRE	kidney:	n/a	n/a
25	CTCF	chr9:7479500-7479650	HRE	kidney:	n/a	n/a
26	CTCF	chr9:7479420-7479570	GM12864	blood:	n/a	n/a
27	CTCF	chr9:7479380-7479530	GM06990	blood:	n/a	n/a
28	CTCF	chr9:7479320-7479470	NB4	blood:	n/a	n/a
29	CTCF	chr9:7479460-7479610	AG09319	gingival:	n/a	n/a
30	CTCF	chr9:7479500-7479650	RPTEC	kidney:	n/a	n/a
31	CTCF	chr9:7479500-7479650	HCT-116	colon:	n/a	n/a
32	CTCF	chr9:7479400-7479550	HPAF	blood vessel:	n/a	n/a
33	CTCF	chr9:7479302-7479615	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr9:7479456-7479559	K562	blood:	n/a	n/a
35	CTCF	chr9:7479380-7479530	HPF	lung:	n/a	n/a
36	CTCF	chr9:7479394-7479622	GM12878	blood:	n/a	n/a
37	CTCF	chr9:7479440-7479531	Hela-S3	cervix:	n/a	n/a
38	CTCF	chr9:7479420-7479570	SK-N-SH_RA	brain:	n/a	n/a
39	CTCF	chr9:7479440-7479590	NHDF-neo	bronchial:	n/a	n/a
40	CTCF	chr9:7479440-7479590	HCPEpiC	choroid plexus:	n/a	n/a
41	CTCF	chr9:7479500-7479650	AG04450	lung:	n/a	n/a
42	CTCF	chr9:7479380-7479530	AG04450	lung:	n/a	n/a
43	CTCF	chr9:7479380-7479530	HPAF	blood vessel:	n/a	n/a
44	CTCF	chr9:7479355-7479578	IMR90	lung:	n/a	n/a
45	CTCF	chr9:7479420-7479570	BJ	skin:	n/a	n/a
46	CTCF	chr9:7479440-7479590	HMF	breast:	n/a	n/a
47	E2F4	chr9:7489008-7489303	MCF10A-Er-Src	breast:	n/a	n/a
48	E2F4	chr9:7479345-7479575	MCF10A-Er-Src	breast:	n/a	n/a
49	EP300	chr9:7488514-7489834	SK-N-SH	brain:	n/a	chr9:7489009-7489023 chr9:7489010-7489024
50	FOS	chr9:7489022-7489387	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:7401862..7402674-chr9:7479089..7479897,2	MCF-7	breast:
2	chr9:7488272..7490593-chr9:7498267..7499824,2	MCF-7	breast:

No data

Variant related genes	Relation type
RPL4P5	TF binding region

Extended variants
information (count: 271 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:271 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13297172	chr9:7478453-7478454	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548550370	chr9:7478475-7478476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143063315	chr9:7478496-7478497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534412294	chr9:7478497-7478498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546685983	chr9:7478518-7478519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571308360	chr9:7478535-7478536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73640269	chr9:7478550-7478551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557259110	chr9:7478563-7478564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575594064	chr9:7478584-7478585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536577543	chr9:7478679-7478680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555472506	chr9:7478680-7478681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192512431	chr9:7478698-7478699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs386732243	chr9:7478717-7478718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2986276	chr9:7478718-7478719	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs578088203	chr9:7478736-7478737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545209881	chr9:7478751-7478752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113960920	chr9:7478759-7478760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368706631	chr9:7478760-7478761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201198724	chr9:7478766-7478767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369657751	chr9:7478767-7478768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531110653	chr9:7478782-7478783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527358670	chr9:7478825-7478826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545442398	chr9:7478827-7478828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560682966	chr9:7478828-7478829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528092623	chr9:7478846-7478847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546350541	chr9:7478860-7478861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571336591	chr9:7478864-7478865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147513545	chr9:7478915-7478916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560701526	chr9:7478927-7478928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550772830	chr9:7478938-7478939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10976306	chr9:7478962-7478963	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs536541096	chr9:7478965-7478966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377100005	chr9:7478972-7478973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372722165	chr9:7479006-7479007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138506426	chr9:7479039-7479040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184555509	chr9:7479076-7479077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577696751	chr9:7479107-7479108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189289280	chr9:7479114-7479115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143992031	chr9:7479141-7479142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374171272	chr9:7479150-7479151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376006851	chr9:7479157-7479158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575445099	chr9:7479167-7479168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147332875	chr9:7479168-7479169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561649731	chr9:7479180-7479181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528041231	chr9:7479189-7479190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148792633	chr9:7479191-7479192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547544275	chr9:7479212-7479213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368915719	chr9:7479228-7479229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs193204196	chr9:7479239-7479240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76285759	chr9:7479244-7479245	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
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
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
Medulloblastoma	16783165	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7477000-7481800	Weak transcription	Fetal Lung	lung
2	chr9:7481800-7482000	Enhancers	Fetal Lung	lung
3	chr9:7482000-7482200	Weak transcription	Fetal Lung	lung
4	chr9:7487200-7488600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr9:7487400-7488600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr9:7487600-7488200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr9:7488400-7490200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:7488400-7490400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr9:7488600-7490400	Enhancers	Fetal Muscle Leg	muscle
10	chr9:7488600-7491200	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr9:7489000-7490200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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