Variant report

Variant	nsv520729
Chromosome Location	chr9:13315466-13333297
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:43)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:43 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr9:13315456-13315474	K562	blood:	n/a	n/a
2	CTCF	chr9:13330740-13330890	HFF-Myc	foreskin:	n/a	n/a
3	CTCF	chr9:13323035-13323065	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr9:13323013-13323069	A549	lung:	n/a	n/a
5	CTCF	chr9:13323020-13323170	HVMF	connective:	n/a	n/a
6	CTCF	chr9:13328331-13328353	GM10248	blood:	n/a	n/a
7	CTCF	chr9:13323107-13323146	Pancreas_OC	pancreas:	n/a	n/a
8	CTCF	chr9:13329454-13329538	GM19238	blood:	n/a	n/a
9	CTCF	chr9:13317880-13318030	GM12875	blood:	n/a	n/a
10	EP300	chr9:13330414-13331056	SK-N-SH_RA	brain:	n/a	n/a
11	EP300	chr9:13329491-13331369	SK-N-SH	brain:	n/a	chr9:13329701-13329711
12	EP300	chr9:13330483-13331083	SK-N-SH_RA	brain:	n/a	n/a
13	FAM48A	chr9:13330555-13330642	GM12878	blood:	n/a	n/a
14	FOS	chr9:13330645-13331041	HUVEC	blood vessel:	n/a	n/a
15	FOS	chr9:13325042-13325242	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr9:13325084-13325266	MCF10A-Er-Src	breast:	n/a	n/a
17	GATA2	chr9:13330568-13331115	HUVEC	blood vessel:	n/a	chr9:13330770-13330784
18	GATA2	chr9:13330580-13330996	SH-SY5Y	brain:	n/a	chr9:13330770-13330784
19	GATA3	chr9:13328020-13328044	SH-SY5Y	brain:	n/a	n/a
20	GATA3	chr9:13330679-13331076	SH-SY5Y	brain:	n/a	n/a
21	KAP1	chr9:13317906-13318407	HEK293	kidney:	n/a	n/a
22	MAX	chr9:13317801-13318119	NB4	blood:	n/a	chr9:13317987-13317997
23	MYC	chr9:13330899-13330906	HUVEC	blood vessel:	n/a	n/a
24	MYC	chr9:13330765-13330888	HUVEC	blood vessel:	n/a	n/a
25	MYC	chr9:13330910-13330920	HUVEC	blood vessel:	n/a	n/a
26	NRF1	chr9:13318244-13318299	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr9:13330769-13330893	HUVEC	blood vessel:	n/a	n/a
28	POLR2A	chr9:13330374-13331090	HUVEC	blood vessel:	n/a	n/a
29	POLR2A	chr9:13320896-13320955	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr9:13330540-13330958	HUVEC	blood vessel:	n/a	n/a
31	RAD21	chr9:13322819-13323196	H1-hESC	embryonic stem cell:	n/a	n/a
32	RAD21	chr9:13322787-13323279	H1-hESC	embryonic stem cell:	n/a	n/a
33	RAD21	chr9:13322885-13323218	H1-hESC	embryonic stem cell:	n/a	n/a
34	RAD21	chr9:13330471-13331023	SK-N-SH_RA	brain:	n/a	n/a
35	RAD21	chr9:13330544-13330975	SK-N-SH_RA	brain:	n/a	n/a
36	REST	chr9:13330682-13331008	SK-N-SH	brain:	n/a	n/a
37	SETDB1	chr9:13318036-13318412	U2OS	brain:	n/a	n/a
38	STAT3	chr9:13318826-13319130	MCF10A-Er-Src	breast:	n/a	n/a
39	STAT3	chr9:13320439-13320510	MCF10A-Er-Src	breast:	n/a	n/a
40	STAT3	chr9:13331663-13331847	MCF10A-Er-Src	breast:	n/a	n/a
41	STAT3	chr9:13325195-13325345	MCF10A-Er-Src	breast:	n/a	n/a
42	USF1	chr9:13314968-13315483	H1-hESC	embryonic stem cell:	n/a	n/a
43	YY1	chr9:13330560-13330943	SK-N-SH_RA	brain:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:13323130-13323180	HUVEC	blood vessel:	n/a
2	chr9:13323113-13323163	HIPEpiC	eye:	n/a
3	chr9:13323130-13323180	NHDF-neo	bronchial:	n/a
4	chr9:13323130-13323180	A549	lung:	n/a
5	chr9:13323130-13323180	K562	blood:	n/a
6	chr9:13323130-13323180	BJ	skin:	n/a
7	chr9:13323130-13323180	HRPEpiC	eye:	n/a
8	chr9:13323113-13323163	HPAEpiC	pulmonary alveolar:	n/a
9	chr9:13323130-13323180	HIPEpiC	eye:	n/a
10	chr9:13323113-13323163	BE2_C	brain:	n/a
11	chr9:13323130-13323180	GM12892	blood:	n/a
12	chr9:13323113-13323163	SAEC	small airway:	n/a
13	chr9:13323113-13323163	GM12892	blood:	n/a
14	chr9:13323130-13323180	AG10803	skin:	n/a
15	chr9:13323130-13323180	HCPEpiC	choroid plexus:	n/a
16	chr9:13323113-13323163	HCPEpiC	choroid plexus:	n/a
17	chr9:13323113-13323163	IMR90	lung:	fetal
18	chr9:13323130-13323180	HMEC	breast:	n/a
19	chr9:13323130-13323180	NH-A	brain:	n/a
20	chr9:13323113-13323163	AoSMC	blood vessel:	n/a
21	chr9:13323113-13323163	HRE	kidney:	n/a
22	chr9:13323113-13323163	MCF10A-Er-Src	breast:	n/a
23	chr9:13323130-13323180	Hepatocyte	liver:	n/a
24	chr9:13323113-13323163	HRPEpiC	eye:	n/a
25	chr9:13323113-13323163	Hepatocyte	liver:	n/a
26	chr9:13323113-13323163	AG04450	lung:	fetal
27	chr9:13323130-13323180	T-47D	breast:	n/a
28	chr9:13323113-13323163	ovcar-3	ovarian:	n/a
29	chr9:13323130-13323180	ProgFib	skin:	n/a
30	chr9:13323113-13323163	HCM	heart:	n/a
31	chr9:13323130-13323180	U87	brain:	n/a
32	chr9:13323130-13323180	ECC-1	luminal epithelium:	n/a
33	chr9:13323130-13323180	BE2_C	brain:	n/a
34	chr9:13323130-13323180	HCT-116	colon:	n/a
35	chr9:13323130-13323180	RPTEC	kidney:	n/a
36	chr9:13323130-13323180	MCF10A-Er-Src	breast:	n/a
37	chr9:13323130-13323180	Jurkat	blood:	n/a
38	chr9:13323113-13323163	HCF	heart:	n/a
39	chr9:13323113-13323163	NH-A	brain:	n/a
40	chr9:13323113-13323163	K562	blood:	n/a
41	chr9:13323113-13323163	T-47D	breast:	n/a
42	chr9:13323113-13323163	GM12891	blood:	n/a
43	chr9:13323130-13323180	HepG2	liver:	n/a
44	chr9:13323130-13323180	SKMC	muscle:	n/a
45	chr9:13323130-13323180	SK-N-MC	brain:	n/a
46	chr9:13323130-13323180	SK-N-SH	brain:	n/a
47	chr9:13323113-13323163	Hela-S3	cervix:	n/a
48	chr9:13323130-13323180	GM12878	blood:	n/a
49	chr9:13323113-13323163	HAEpiC	amniotic membrane:	n/a
50	chr9:13323113-13323163	NT2-D1	testis:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MPDZ-3	chr9:13322805-13323449	NONHSAT130234

No data

Variant related genes	Relation type
ENSG00000223672	TF binding region
ENSG00000223672	CpG island

Extended variants
information (count: 580 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:580 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34744607	chr9:13318006-13318007	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530616048	chr9:13318009-13318010	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs550630260	chr9:13318010-13318011	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs567231529	chr9:13318023-13318024	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs529631792	chr9:13318032-13318033	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs569718957	chr9:13318034-13318035	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs546889594	chr9:13318035-13318036	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs566602249	chr9:13318040-13318041	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs74739884	chr9:13318041-13318042	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs558320276	chr9:13318044-13318045	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs571440558	chr9:13318058-13318059	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs186997648	chr9:13318064-13318065	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs142156821	chr9:13318082-13318083	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs199542394	chr9:13318122-13318123	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs372840064	chr9:13318125-13318126	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs554827055	chr9:13318199-13318200	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs79814296	chr9:13318202-13318203	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs377064900	chr9:13318235-13318236	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs190340532	chr9:13318244-13318245	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs565465826	chr9:13318245-13318246	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs568620872	chr9:13318319-13318320	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs150886705	chr9:13318338-13318339	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs182148503	chr9:13318343-13318344	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs560788284	chr9:13318397-13318398	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs549620710	chr9:13320608-13320609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569686447	chr9:13320614-13320615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181704126	chr9:13320626-13320627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555334345	chr9:13320633-13320634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374205969	chr9:13320634-13320635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs140931906	chr9:13320637-13320638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs558049740	chr9:13320647-13320648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs117233818	chr9:13320660-13320661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543593092	chr9:13320669-13320670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs143760937	chr9:13320684-13320685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs186159341	chr9:13320716-13320717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs2131891	chr9:13320777-13320778	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs562094662	chr9:13320778-13320779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs190777005	chr9:13320801-13320802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs76145718	chr9:13320859-13320860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561869827	chr9:13320965-13320966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541172490	chr9:13320985-13320986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs148150667	chr9:13320997-13320998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533353008	chr9:13321004-13321005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550347421	chr9:13321024-13321025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs73647132	chr9:13321036-13321037	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs111249525	chr9:13321040-13321041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548775471	chr9:13321043-13321044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182596617	chr9:13321074-13321075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534558900	chr9:13321095-13321096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs558084492	chr9:13321155-13321156	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Disorders of sex development	21048976	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
abnormal development	18461090	CNVD
Glioblastoma multiforme	21080181	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
Intellectual disability	22102821	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:13318000-13318400	Active TSS	Fetal Heart	heart
2	chr9:13320600-13321600	Enhancers	Adipose Nuclei	Adipose
3	chr9:13320800-13321600	Enhancers	Left Ventricle	heart
4	chr9:13321600-13324800	Weak transcription	Adipose Nuclei	Adipose
5	chr9:13321600-13330600	Weak transcription	Left Ventricle	heart
6	chr9:13322600-13323600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr9:13322800-13323000	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr9:13322800-13324200	Enhancers	Colon Smooth Muscle	Colon
9	chr9:13323000-13323400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr9:13323000-13323400	Enhancers	Placenta	Placenta
11	chr9:13323000-13323400	Enhancers	Rectal Smooth Muscle	rectum
12	chr9:13323000-13323600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr9:13323000-13323600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr9:13323000-13323600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr9:13323000-13323600	Active TSS	Stomach Smooth Muscle	stomach
16	chr9:13323000-13323600	Enhancers	NHEK	skin
17	chr9:13323400-13323800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr9:13323600-13324800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr9:13323600-13324800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr9:13323600-13325400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr9:13324800-13325200	Enhancers	Brain Cingulate Gyrus	brain
22	chr9:13324800-13325600	Enhancers	Adipose Nuclei	Adipose
23	chr9:13325000-13325200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr9:13325000-13325200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr9:13325000-13325400	Enhancers	NHDF-Ad	bronchial
26	chr9:13325000-13325600	Enhancers	HUVEC	blood vessel
27	chr9:13325400-13330200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr9:13325600-13327400	Weak transcription	Adipose Nuclei	Adipose
29	chr9:13325600-13330400	Weak transcription	HUVEC	blood vessel
30	chr9:13327400-13328400	Enhancers	Adipose Nuclei	Adipose
31	chr9:13328000-13328400	Enhancers	Fetal Heart	heart
32	chr9:13328400-13329600	Weak transcription	Adipose Nuclei	Adipose
33	chr9:13328400-13330400	Weak transcription	Fetal Heart	heart
34	chr9:13329600-13329800	Enhancers	Adipose Nuclei	Adipose
35	chr9:13329800-13330200	Weak transcription	Adipose Nuclei	Adipose
36	chr9:13330200-13331000	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr9:13330200-13331200	Enhancers	Adipose Nuclei	Adipose
38	chr9:13330400-13331000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr9:13330400-13331000	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr9:13330400-13331000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr9:13330400-13331600	Enhancers	Fetal Heart	heart
42	chr9:13330400-13331600	Enhancers	Fetal Lung	lung
43	chr9:13330400-13331600	Enhancers	HUVEC	blood vessel
44	chr9:13330600-13331000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr9:13330600-13331000	Enhancers	Aorta	Aorta
46	chr9:13330600-13331000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr9:13330600-13331000	Enhancers	Fetal Muscle Leg	muscle
48	chr9:13330600-13331000	Enhancers	Left Ventricle	heart
49	chr9:13330600-13331000	Enhancers	Lung	lung
50	chr9:13330600-13331000	Enhancers	Right Atrium	heart

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