Variant report

Variant	nsv892332
Chromosome Location	chr9:10948272-11016456
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:67)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:67 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr9:11016111-11016284	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr9:10997740-10997983	HepG2	liver:	n/a	chr9:10997888-10997899
3	CEBPB	chr9:10957871-10958258	HepG2	liver:	n/a	chr9:10958059-10958070
4	CEBPB	chr9:10959847-10960172	A549	lung:	n/a	chr9:10959996-10960007
5	CEBPB	chr9:10959931-10960102	HepG2	liver:	n/a	chr9:10959996-10960007
6	CEBPB	chr9:10957899-10958248	IMR90	lung:	n/a	chr9:10958059-10958070
7	CEBPB	chr9:10978428-10978694	HepG2	liver:	n/a	chr9:10978574-10978585
8	CEBPB	chr9:10957932-10958241	H1-hESC	embryonic stem cell:	n/a	chr9:10958059-10958070
9	CEBPB	chr9:10978471-10978631	A549	lung:	n/a	chr9:10978574-10978585
10	CEBPB	chr9:10997736-10998005	A549	lung:	n/a	chr9:10997888-10997899
11	CEBPB	chr9:10957928-10958232	A549	lung:	n/a	chr9:10958059-10958070
12	CTCF	chr9:10964233-10964354	Lung_OC	lung:	n/a	n/a
13	CTCF	chr9:11015220-11015370	WERI-Rb-1	eye:	n/a	n/a
14	CTCF	chr9:11009607-11009644	GM10248	blood:	n/a	n/a
15	CTCF	chr9:10983863-10983874	GM10248	blood:	n/a	n/a
16	CTCF	chr9:10966906-10966970	GM10266	blood:	n/a	n/a
17	CTCF	chr9:10986479-10986499	LNCaP	prostate:	n/a	n/a
18	CTCF	chr9:10986506-10986511	LNCaP	prostate:	n/a	n/a
19	EBF1	chr9:10959316-10959484	GM12878	blood:	n/a	chr9:10959442-10959453
20	ELK1	chr9:10984050-10984097	GM12878	blood:	n/a	n/a
21	EP300	chr9:10988018-10988161	GM12878	blood:	n/a	n/a
22	FOS	chr9:11016312-11016360	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr9:11016275-11016352	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr9:10955477-10955737	MCF10A-Er-Src	breast:	n/a	chr9:10955598-10955605 chr9:10955597-10955606 chr9:10955598-10955606 chr9:10955598-10955607
25	FOXA1	chr9:10957912-10958238	HepG2	liver:	n/a	n/a
26	FOXA2	chr9:10957940-10958200	HepG2	liver:	n/a	n/a
27	JUN	chr9:10983542-10983586	H1-hESC	embryonic stem cell:	n/a	n/a
28	JUND	chr9:10959577-10959843	HepG2	liver:	n/a	chr9:10959686-10959697
29	JUND	chr9:10962849-10963137	HepG2	liver:	n/a	chr9:10962988-10962999
30	NFYB	chr9:10959675-10959848	GM12878	blood:	n/a	n/a
31	NFYB	chr9:10983990-10984160	GM12878	blood:	n/a	n/a
32	POLR2A	chr9:11011937-11011991	MCF-7	breast:	n/a	n/a
33	POLR2A	chr9:11007376-11007961	K562	blood:	n/a	n/a
34	POLR2A	chr9:10991604-10991732	GM12878	blood:	n/a	n/a
35	POLR2A	chr9:11001546-11001996	H1-neurons	neurons:	n/a	n/a
36	POLR2A	chr9:11010994-11014169	K562	blood:	n/a	n/a
37	POLR2A	chr9:10971817-10971819	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr9:10969636-10969836	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr9:10953960-10954071	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr9:10959073-10959259	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr9:10970933-10971021	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr9:11012920-11013016	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr9:10987844-10988044	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr9:11011146-11012585	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr9:11008247-11009177	K562	blood:	n/a	n/a
46	POLR2A	chr9:11015430-11016200	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr9:11006132-11006971	K562	blood:	n/a	n/a
48	POLR2A	chr9:11010249-11010419	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr9:10990766-10990931	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr9:10987587-10987941	SK-N-MC	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:10966083-10966133	GM12891	blood:	n/a
2	chr9:10966083-10966133	AG04449	skin:	fetal
3	chr9:10966083-10966133	HCF	heart:	n/a
4	chr9:10966083-10966133	LNCaP	prostate:	n/a
5	chr9:10966083-10966133	NHDF-neo	bronchial:	n/a
6	chr9:10966083-10966133	U87	brain:	n/a
7	chr9:10966083-10966133	Hepatocyte	liver:	n/a
8	chr9:10966083-10966133	HCM	heart:	n/a
9	chr9:10966083-10966133	SK-N-MC	brain:	n/a
10	chr9:10966083-10966133	A549	lung:	n/a
11	chr9:10966083-10966133	HMEC	breast:	n/a
12	chr9:10966083-10966133	GM12892	blood:	n/a
13	chr9:10966083-10966133	AoSMC	blood vessel:	n/a
14	chr9:10966083-10966133	AG10803	skin:	n/a
15	chr9:10966083-10966133	HRCEpiC	kidney:	n/a
16	chr9:10966083-10966133	Caco-2	colon:	n/a
17	chr9:10966083-10966133	HEK293	kidney:	embryo
18	chr9:10966083-10966133	BJ	skin:	n/a
19	chr9:10966083-10966133	T-47D	breast:	n/a
20	chr9:10966083-10966133	PrEC	prostate:	n/a
21	chr9:10966083-10966133	NT2-D1	testis:	n/a
22	chr9:10966083-10966133	MCF10A-Er-Src	breast:	n/a
23	chr9:10966083-10966133	HepG2	liver:	n/a
24	chr9:10966083-10966133	H1-hESC	embryonic stem cell:	embryo
25	chr9:10966083-10966133	PANC-1	pancreas:	n/a
26	chr9:10966083-10966133	PFSK-1	brain:	n/a
27	chr9:10966083-10966133	ProgFib	skin:	n/a
28	chr9:10966083-10966133	HUVEC	blood vessel:	n/a
29	chr9:10966083-10966133	K562	blood:	n/a
30	chr9:10966083-10966133	HL-60	blood:	n/a
31	chr9:10966083-10966133	IMR90	lung:	fetal
32	chr9:10966083-10966133	HCT-116	colon:	n/a
33	chr9:10966083-10966133	CMK	blood:	n/a
34	chr9:10966083-10966133	BE2_C	brain:	n/a
35	chr9:10966083-10966133	NB4	blood:	n/a
36	chr9:10966083-10966133	HIPEpiC	eye:	n/a
37	chr9:10966083-10966133	GM12878	blood:	n/a
38	chr9:10966083-10966133	SAEC	small airway:	n/a
39	chr9:10966083-10966133	Hela-S3	cervix:	n/a
40	chr9:10966083-10966133	MCF-7	breast:	n/a
41	chr9:10966083-10966133	NH-A	brain:	n/a
42	chr9:10966083-10966133	HCPEpiC	choroid plexus:	n/a
43	chr9:10966083-10966133	NHBE	bronchial:	n/a
44	chr9:10966083-10966133	HRE	kidney:	n/a
45	chr9:10966083-10966133	SKMC	muscle:	n/a
46	chr9:10966083-10966133	SK-N-SH	brain:	n/a
47	chr9:10966083-10966133	ECC-1	luminal epithelium:	n/a
48	chr9:10966083-10966133	ovcar-3	ovarian:	n/a
49	chr9:10966083-10966133	HPAEpiC	pulmonary alveolar:	n/a
50	chr9:10966083-10966133	AG04450	lung:	fetal

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTPRD-7	chr9:10948366-10948481	NONHSAT130207
2	lnc-PTPRD-7	chr9:10958410-10958540	NONHSAT130207

No data

Variant related genes	Relation type
ENSG00000270372	TF binding region
ENSG00000234146	TF binding region
ENSG00000270372	CpG island
ENSG00000234146	CpG island

Extended variants
information (count: 547 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:547 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12002062	chr9:10948423-10948424	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573942300	chr9:10948453-10948454	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs575101675	chr9:10953403-10953404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571670296	chr9:10953422-10953423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs56000208	chr9:10953431-10953432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560722917	chr9:10953441-10953442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs56135134	chr9:10953466-10953467	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs148403509	chr9:10953468-10953469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573687833	chr9:10953471-10953472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542960448	chr9:10953491-10953492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553254178	chr9:10953494-10953495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144013336	chr9:10953536-10953537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545288564	chr9:10953547-10953548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs10959397	chr9:10953549-10953550	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs552572353	chr9:10953551-10953552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532914663	chr9:10953561-10953562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs367977964	chr9:10953587-10953588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146419513	chr9:10953589-10953590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528895549	chr9:10953600-10953601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182742123	chr9:10953609-10953610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186262725	chr9:10953612-10953613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566204318	chr9:10953646-10953647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538633306	chr9:10953652-10953653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528357653	chr9:10953656-10953657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551312882	chr9:10953661-10953662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs369811808	chr9:10953668-10953669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191069659	chr9:10953680-10953681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571403271	chr9:10953684-10953685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537188679	chr9:10953696-10953697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs141151015	chr9:10953718-10953719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114037998	chr9:10953729-10953730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536256620	chr9:10953772-10953773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374087573	chr9:10953773-10953774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144861664	chr9:10953784-10953785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184019997	chr9:10953807-10953808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376020715	chr9:10953825-10953826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs375027366	chr9:10953827-10953828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs531558133	chr9:10953869-10953870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545663186	chr9:10953873-10953874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs60757812	chr9:10953884-10953885	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs575787477	chr9:10953896-10953897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543592881	chr9:10953910-10953911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563378502	chr9:10953921-10953922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs151201378	chr9:10953930-10953931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs111374521	chr9:10953944-10953945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs60411868	chr9:10953957-10953958	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs528408511	chr9:10953975-10953976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551642371	chr9:10953981-10953982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564978454	chr9:10954030-10954031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs370114439	chr9:10954038-10954039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
abnormal development	18461090	CNVD
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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	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
Cancer	20164920	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
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Melanoma	22183965	CNVD
Barrett''s syndrome	19417022	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:10953400-10954000	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr9:10953400-10954000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr9:10953600-10954000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr9:10953600-10954000	Enhancers	H1 Cell Line	embryonic stem cell
5	chr9:10953600-10954000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr9:10953600-10954000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr9:10954000-10954200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr9:10954000-10954200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr9:10954000-10955200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr9:10954000-10956000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr9:10954000-10956000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr9:10955200-10957000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr9:10956000-10956400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr9:10956000-10956400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr9:10956000-10956800	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr9:10956000-10957000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr9:10956000-10957200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr9:10999600-11000000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr9:10999600-11000000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr9:11000000-11002600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr9:11016200-11016600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr9:11016200-11016800	Enhancers	Placenta Amnion	Placenta Amnion
23	chr9:11016400-11016800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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