Variant report

Variant	nsv613410
Chromosome Location	chr9:10941408-11024400
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:83)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:83 , 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	chr9:10957899-10958248	IMR90	lung:	n/a	chr9:10958059-10958070
3	CEBPB	chr9:10997736-10998005	A549	lung:	n/a	chr9:10997888-10997899
4	CEBPB	chr9:10957932-10958241	H1-hESC	embryonic stem cell:	n/a	chr9:10958059-10958070
5	CEBPB	chr9:10978428-10978694	HepG2	liver:	n/a	chr9:10978574-10978585
6	CEBPB	chr9:11022159-11022375	HepG2	liver:	n/a	chr9:11022289-11022300
7	CEBPB	chr9:10957871-10958258	HepG2	liver:	n/a	chr9:10958059-10958070
8	CEBPB	chr9:11022148-11022435	IMR90	lung:	n/a	chr9:11022289-11022300
9	CEBPB	chr9:10959847-10960172	A549	lung:	n/a	chr9:10959996-10960007
10	CEBPB	chr9:10997740-10997983	HepG2	liver:	n/a	chr9:10997888-10997899
11	CEBPB	chr9:11022120-11022420	Hela-S3	cervix:	n/a	chr9:11022289-11022300
12	CEBPB	chr9:11022160-11022402	A549	lung:	n/a	chr9:11022289-11022300
13	CEBPB	chr9:10959931-10960102	HepG2	liver:	n/a	chr9:10959996-10960007
14	CEBPB	chr9:10978471-10978631	A549	lung:	n/a	chr9:10978574-10978585
15	CEBPB	chr9:10957928-10958232	A549	lung:	n/a	chr9:10958059-10958070
16	CTCF	chr9:11009607-11009644	GM10248	blood:	n/a	n/a
17	CTCF	chr9:10986479-10986499	LNCaP	prostate:	n/a	n/a
18	CTCF	chr9:10964233-10964354	Lung_OC	lung:	n/a	n/a
19	CTCF	chr9:10966906-10966970	GM10266	blood:	n/a	n/a
20	CTCF	chr9:10983863-10983874	GM10248	blood:	n/a	n/a
21	CTCF	chr9:10986506-10986511	LNCaP	prostate:	n/a	n/a
22	CTCF	chr9:11015220-11015370	WERI-Rb-1	eye:	n/a	n/a
23	EBF1	chr9:10959316-10959484	GM12878	blood:	n/a	chr9:10959442-10959453
24	ELK1	chr9:10984050-10984097	GM12878	blood:	n/a	n/a
25	EP300	chr9:10988018-10988161	GM12878	blood:	n/a	n/a
26	FOS	chr9:10955477-10955737	MCF10A-Er-Src	breast:	n/a	chr9:10955598-10955605 chr9:10955597-10955606 chr9:10955598-10955606 chr9:10955598-10955607
27	FOS	chr9:11016312-11016360	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr9:11016275-11016352	MCF10A-Er-Src	breast:	n/a	n/a
29	FOXA1	chr9:10957912-10958238	HepG2	liver:	n/a	n/a
30	FOXA2	chr9:10957940-10958200	HepG2	liver:	n/a	n/a
31	GATA3	chr9:11022487-11022867	SK-N-SH	brain:	n/a	n/a
32	JUN	chr9:10983542-10983586	H1-hESC	embryonic stem cell:	n/a	n/a
33	JUN	chr9:11022172-11022314	HepG2	liver:	n/a	chr9:11022286-11022299
34	JUND	chr9:10962849-10963137	HepG2	liver:	n/a	chr9:10962988-10962999
35	JUND	chr9:10959577-10959843	HepG2	liver:	n/a	chr9:10959686-10959697
36	NFYB	chr9:10983990-10984160	GM12878	blood:	n/a	n/a
37	NFYB	chr9:10959675-10959848	GM12878	blood:	n/a	n/a
38	PBX3	chr9:11023165-11023515	SK-N-SH	brain:	n/a	n/a
39	PBX3	chr9:11023196-11023566	SK-N-SH	brain:	n/a	n/a
40	POLR2A	chr9:11016563-11016952	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr9:10969636-10969836	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr9:11011146-11012585	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr9:11019601-11019638	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr9:10953960-10954071	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr9:11010249-11010419	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr9:11011937-11011991	MCF-7	breast:	n/a	n/a
47	POLR2A	chr9:10959073-10959259	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr9:10946841-10946978	A549	lung:	n/a	n/a
49	POLR2A	chr9:11001543-11002015	H1-neurons	neurons:	n/a	n/a
50	POLR2A	chr9:10970933-10971021	MCF10A-Er-Src	breast:	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	H1-hESC	embryonic stem cell:	embryo
2	chr9:10966083-10966133	GM12891	blood:	n/a
3	chr9:10966083-10966133	GM19239	blood:	n/a
4	chr9:10966083-10966133	HL-60	blood:	n/a
5	chr9:10966083-10966133	Jurkat	blood:	n/a
6	chr9:10966083-10966133	GM12892	blood:	n/a
7	chr9:10966083-10966133	NHBE	bronchial:	n/a
8	chr9:10966083-10966133	AG09309	skin:	n/a
9	chr9:10966083-10966133	RPTEC	kidney:	n/a
10	chr9:10966083-10966133	HCPEpiC	choroid plexus:	n/a
11	chr9:10966083-10966133	HEK293	kidney:	embryo
12	chr9:10966083-10966133	ovcar-3	ovarian:	n/a
13	chr9:10966083-10966133	HEEpiC	esophagus:	n/a
14	chr9:10966083-10966133	HNPCEpiC	eye:	n/a
15	chr9:10966083-10966133	HRCEpiC	kidney:	n/a
16	chr9:10966083-10966133	HCM	heart:	n/a
17	chr9:10966083-10966133	HAEpiC	amniotic membrane:	n/a
18	chr9:10966083-10966133	IMR90	lung:	fetal
19	chr9:10966083-10966133	AG09319	gingival:	n/a
20	chr9:10966083-10966133	HMEC	breast:	n/a
21	chr9:10966083-10966133	NH-A	brain:	n/a
22	chr9:10966083-10966133	AG04450	lung:	fetal
23	chr9:10966083-10966133	PANC-1	pancreas:	n/a
24	chr9:10966083-10966133	Hela-S3	cervix:	n/a
25	chr9:10966083-10966133	HRPEpiC	eye:	n/a
26	chr9:10966083-10966133	K562	blood:	n/a
27	chr9:10966083-10966133	HPAEpiC	pulmonary alveolar:	n/a
28	chr9:10966083-10966133	BE2_C	brain:	n/a
29	chr9:10966083-10966133	BJ	skin:	n/a
30	chr9:10966083-10966133	LNCaP	prostate:	n/a
31	chr9:10966083-10966133	CMK	blood:	n/a
32	chr9:10966083-10966133	HRE	kidney:	n/a
33	chr9:10966083-10966133	ECC-1	luminal epithelium:	n/a
34	chr9:10966083-10966133	SKMC	muscle:	n/a
35	chr9:10966083-10966133	T-47D	breast:	n/a
36	chr9:10966083-10966133	PFSK-1	brain:	n/a
37	chr9:10966083-10966133	MCF10A-Er-Src	breast:	n/a
38	chr9:10966083-10966133	HCF	heart:	n/a
39	chr9:10966083-10966133	HIPEpiC	eye:	n/a
40	chr9:10966083-10966133	HCT-116	colon:	n/a
41	chr9:10966083-10966133	HepG2	liver:	n/a
42	chr9:10966083-10966133	SK-N-MC	brain:	n/a
43	chr9:10966083-10966133	Caco-2	colon:	n/a
44	chr9:10966083-10966133	AG10803	skin:	n/a
45	chr9:10966083-10966133	NT2-D1	testis:	n/a
46	chr9:10966083-10966133	SAEC	small airway:	n/a
47	chr9:10966083-10966133	Hepatocyte	liver:	n/a
48	chr9:10966083-10966133	SK-N-SH_RA	brain:	n/a
49	chr9:10966083-10966133	AG04449	skin:	fetal
50	chr9:10966083-10966133	GM12878	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:11018319..11020122-chr9:11028284..11030426,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTPRD-7	chr9:10958410-10958540	NONHSAT130207
2	lnc-PTPRD-7	chr9:10948366-10948481	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: 968 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:968 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10959386	chr9:10941408-10941409	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568743545	chr9:10941514-10941515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7873664	chr9:10941533-10941534	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs548321622	chr9:10941542-10941543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568463355	chr9:10941555-10941556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534261045	chr9:10941590-10941591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79671564	chr9:10941628-10941629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185540214	chr9:10941642-10941643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541972383	chr9:10941682-10941683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140097552	chr9:10941689-10941690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540166460	chr9:10941690-10941691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12683376	chr9:10941695-10941696	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs576751701	chr9:10941705-10941706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542440256	chr9:10941706-10941707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555882859	chr9:10941710-10941711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143676782	chr9:10941718-10941719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563013055	chr9:10941767-10941768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540293617	chr9:10941770-10941771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559921448	chr9:10941803-10941804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146794591	chr9:10941815-10941816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188356114	chr9:10941852-10941853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554639794	chr9:10941873-10941874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372409512	chr9:10941875-10941876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10959387	chr9:10941885-10941886	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs548090384	chr9:10941889-10941890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139484772	chr9:10941920-10941921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs142982951	chr9:10941927-10941928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111277688	chr9:10941929-10941930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186014085	chr9:10941959-10941960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75139197	chr9:10941985-10941986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546205772	chr9:10941988-10941989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560707477	chr9:10942015-10942016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371674863	chr9:10942018-10942019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563183623	chr9:10942047-10942048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112131917	chr9:10942052-10942053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139800165	chr9:10942053-10942054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191506530	chr9:10942072-10942073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570368445	chr9:10942074-10942075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536117015	chr9:10942122-10942123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373074790	chr9:10942124-10942125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531828426	chr9:10942136-10942137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572577387	chr9:10942152-10942153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113997076	chr9:10942173-10942174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184162610	chr9:10942176-10942177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576473589	chr9:10942217-10942218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545397201	chr9:10942218-10942219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548737921	chr9:10942228-10942229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562102278	chr9:10942230-10942231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575949508	chr9:10942317-10942318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542080667	chr9:10942361-10942362	Weak transcription	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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:10937400-10947200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:10947000-10947400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr9:10947200-10947400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr9:10947200-10947400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr9:10953400-10954000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr9:10953400-10954000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr9:10953600-10954000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr9:10953600-10954000	Enhancers	H1 Cell Line	embryonic stem cell
9	chr9:10953600-10954000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr9:10953600-10954000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr9:10954000-10954200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr9:10954000-10954200	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr9:10954000-10955200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr9:10954000-10956000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr9:10954000-10956000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr9:10955200-10957000	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr9:10956000-10956400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr9:10956000-10956400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr9:10956000-10956800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr9:10956000-10957000	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr9:10956000-10957200	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr9:10999600-11000000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr9:10999600-11000000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr9:11000000-11002600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr9:11016200-11016600	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr9:11016200-11016800	Enhancers	Placenta Amnion	Placenta Amnion
27	chr9:11016400-11016800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr9:11016600-11017000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr9:11021800-11023000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr9:11023400-11023600	Enhancers	Fetal Lung	lung

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