Variant report

Variant	nsv1036832
Chromosome Location	chr10:38912721-39074038
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:535)
CpG islands
(count:550)
Chromatin interactive
region (count:1)
LncRNA
region (count:69)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:535 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr10:39069131-39069332	GM12878	blood:	n/a	n/a
2	BATF	chr10:39011913-39012229	GM12878	blood:	n/a	n/a
3	BATF	chr10:39056264-39056575	GM12878	blood:	n/a	chr10:39056419-39056430
4	BATF	chr10:38946073-38946410	GM12878	blood:	n/a	n/a
5	BATF	chr10:39026887-39027079	GM12878	blood:	n/a	n/a
6	BATF	chr10:39066194-39066341	GM12878	blood:	n/a	n/a
7	BATF	chr10:38930093-38930312	GM12878	blood:	n/a	n/a
8	BATF	chr10:39012008-39012251	GM12878	blood:	n/a	n/a
9	BCL11A	chr10:39066112-39066389	GM12878	blood:	n/a	n/a
10	BCL11A	chr10:39070088-39070283	GM12878	blood:	n/a	n/a
11	BCL11A	chr10:39055155-39055331	GM12878	blood:	n/a	n/a
12	BCL11A	chr10:39071173-39071414	GM12878	blood:	n/a	n/a
13	BCL11A	chr10:39057780-39057946	GM12878	blood:	n/a	n/a
14	BCL11A	chr10:39066172-39066370	GM12878	blood:	n/a	n/a
15	BHLHE40	chr10:38938229-38938487	HepG2	liver:	n/a	n/a
16	BHLHE40	chr10:39067039-39067285	HepG2	liver:	n/a	n/a
17	CEBPB	chr10:38946139-38946456	K562	blood:	n/a	chr10:38946304-38946321 chr10:38946305-38946318
18	CEBPB	chr10:39037900-39037952	A549	lung:	n/a	n/a
19	CEBPB	chr10:38946193-38946403	K562	blood:	n/a	chr10:38946304-38946321 chr10:38946305-38946318
20	CTCF	chr10:39070567-39071010	A549	lung:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
21	CTCF	chr10:38946127-38946352	LNCaP	prostate:	n/a	chr10:38946233-38946241
22	CTCF	chr10:38946132-38946354	GM10248	blood:	n/a	chr10:38946233-38946241
23	CTCF	chr10:38946034-38946418	K562	blood:	n/a	chr10:38946233-38946241
24	CTCF	chr10:39003073-39003149	GM13977	blood:	n/a	n/a
25	CTCF	chr10:39070700-39070850	HPAF	blood vessel:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
26	CTCF	chr10:38946127-38946268	MCF-7	breast:	n/a	chr10:38946233-38946241
27	CTCF	chr10:38946117-38946410	A549	lung:	n/a	chr10:38946233-38946241
28	CTCF	chr10:38946146-38946209	MCF-7	breast:	n/a	n/a
29	CTCF	chr10:38933967-38934056	LNCaP	prostate:	n/a	n/a
30	CTCF	chr10:39070760-39070910	NHDF-neo	bronchial:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
31	CTCF	chr10:38946132-38946353	A549	lung:	n/a	chr10:38946233-38946241
32	CTCF	chr10:38913532-38913599	LNCaP	prostate:	n/a	n/a
33	CTCF	chr10:39070806-39070856	Spleen_OC	spleen:	n/a	n/a
34	CTCF	chr10:38946038-38946451	K562	blood:	n/a	chr10:38946233-38946241
35	CTCF	chr10:39070760-39070910	BJ	skin:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
36	CTCF	chr10:39070790-39070889	Hela-S3	cervix:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
37	CTCF	chr10:38954943-38955030	LNCaP	prostate:	n/a	n/a
38	CTCF	chr10:39070694-39070843	K562	blood:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
39	CTCF	chr10:39040660-39040679	Kidney_OC	kidney:	n/a	n/a
40	CTCF	chr10:39070720-39070870	GM12873	blood:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
41	CTCF	chr10:39070727-39070893	HUVEC	blood vessel:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
42	CTCF	chr10:39070760-39070910	AG09319	gingival:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
43	CTCF	chr10:38992453-38992488	GM10266	blood:	n/a	n/a
44	CTCF	chr10:39070618-39070992	A549	lung:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
45	CTCF	chr10:38946129-38946248	A549	lung:	n/a	chr10:38946233-38946241
46	CTCF	chr10:38946160-38946310	MCF-7	breast:	n/a	chr10:38946233-38946241
47	CTCF	chr10:38946279-38946344	Medullo	brain:	n/a	n/a
48	CTCF	chr10:38924678-38924814	GM13976	blood:	n/a	n/a
49	CTCF	chr10:39038829-39038908	LNCaP	prostate:	n/a	n/a
50	CTCF	chr10:39004554-39004583	GM13977	blood:	n/a	n/a

(count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:39024195-39024245	IMR90	lung:	fetal
2	chr10:39024195-39024245	IMR90	lung:	fetal
3	chr10:39023095-39023145	MCF10A-Er-Src	breast:	n/a
4	chr10:39023676-39023726	HL-60	blood:	n/a
5	chr10:39023045-39023095	SAEC	small airway:	n/a
6	chr10:39024195-39024245	PrEC	prostate:	n/a
7	chr10:39023045-39023095	SK-N-SH	brain:	n/a
8	chr10:38928989-38929039	BE2_C	brain:	n/a
9	chr10:39023095-39023145	HepG2	liver:	n/a
10	chr10:39023676-39023726	Hepatocyte	liver:	n/a
11	chr10:38928847-38928897	Hela-S3	cervix:	n/a
12	chr10:39024195-39024245	HIPEpiC	eye:	n/a
13	chr10:39023045-39023095	HEK293	kidney:	embryo
14	chr10:39024195-39024245	PFSK-1	brain:	n/a
15	chr10:39020983-39021033	HCPEpiC	choroid plexus:	n/a
16	chr10:39023676-39023726	PFSK-1	brain:	n/a
17	chr10:38928847-38928897	NHDF-neo	bronchial:	n/a
18	chr10:39024195-39024245	SK-N-SH_RA	brain:	n/a
19	chr10:39024195-39024245	HRPEpiC	eye:	n/a
20	chr10:39024195-39024245	GM12878	blood:	n/a
21	chr10:39024195-39024245	BE2_C	brain:	n/a
22	chr10:39023676-39023726	K562	blood:	n/a
23	chr10:39020983-39021033	HepG2	liver:	n/a
24	chr10:39023095-39023145	BJ	skin:	n/a
25	chr10:39023045-39023095	AG04450	lung:	fetal
26	chr10:38928989-38929039	IMR90	lung:	fetal
27	chr10:39023045-39023095	ovcar-3	ovarian:	n/a
28	chr10:38928989-38929039	NHDF-neo	bronchial:	n/a
29	chr10:39024195-39024245	NB4	blood:	n/a
30	chr10:39024195-39024245	GM06990	blood:	n/a
31	chr10:39023768-39023818	HepG2	liver:	n/a
32	chr10:39024195-39024245	HRCEpiC	kidney:	n/a
33	chr10:38928989-38929039	GM12892	blood:	n/a
34	chr10:38928847-38928897	HRCEpiC	kidney:	n/a
35	chr10:39023095-39023145	HRPEpiC	eye:	n/a
36	chr10:38928847-38928897	A549	lung:	n/a
37	chr10:39020983-39021033	GM12878	blood:	n/a
38	chr10:39020983-39021033	NB4	blood:	n/a
39	chr10:39023045-39023095	PANC-1	pancreas:	n/a
40	chr10:39023095-39023145	HCPEpiC	choroid plexus:	n/a
41	chr10:38928847-38928897	HNPCEpiC	eye:	n/a
42	chr10:39020983-39021033	HRCEpiC	kidney:	n/a
43	chr10:39020983-39021033	A549	lung:	n/a
44	chr10:39023768-39023818	NT2-D1	testis:	n/a
45	chr10:39023095-39023145	K562	blood:	n/a
46	chr10:39024195-39024245	Caco-2	colon:	n/a
47	chr10:39024087-39024137	GM12891	blood:	n/a
48	chr10:39023768-39023818	GM12891	blood:	n/a
49	chr10:39023768-39023818	AG10803	skin:	n/a
50	chr10:39024087-39024137	HAEpiC	amniotic membrane:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:38965666..38966167-chr6:29670107..29670640,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SEPT7L-2	chr10:38984365-38984470	NONHSAT012838
2	lnc-SEPT7L-2	chr10:38938424-38938559	ENSG00000233867
3	lnc-SEPT7L-2	chr10:38984942-38985062	NONHSAT012838
4	lnc-SEPT7L-2	chr10:38965036-38965210	NONHSAT012835
5	lnc-SEPT7L-2	chr10:38974088-38974323	NONHSAT012837
6	lnc-ZNF37A-17	chr10:38989727-38991371	NR_045000
7	lnc-SEPT7L-2	chr10:39005042-39005216	NONHSAT012838
8	lnc-SEPT7L-2	chr10:38944936-38945056	ENSG00000233867
9	lnc-SEPT7L-2	chr10:38943366-38943409	ENSG00000233867
10	lnc-SEPT7L-2	chr10:38983372-38983521	NONHSAT012838
11	lnc-SEPT7L-2	chr10:38979394-38979536	ENSG00000233867
12	lnc-SEPT7L-2	chr10:38977632-38977730	NONHSAT012838
13	lnc-ZNF37A-18	chr10:39046332-39046418	NONHSAT012840
14	lnc-SEPT7L-2	chr10:38979450-38979558	NONHSAT012837
15	lnc-SEPT7L-2	chr10:39022035-39022206	NONHSAT012838
16	lnc-ZNF37A-5	chr10:39006326-39006412	ENSG00000234541
17	lnc-SEPT7L-2	chr10:38983372-38983521	NONHSAT012836
18	lnc-SEPT7L-2	chr10:38943366-38943515	ENSG00000233867
19	lnc-ZNF37A-5	chr10:39010984-39011260	ENSG00000234541
20	lnc-SEPT7L-2	chr10:38934082-38934317	ENSG00000233867
21	lnc-SEPT7L-2	chr10:38938424-38938559	NONHSAT012835
22	lnc-SEPT7L-6	chr10:39055226-39055622	NONHSAT012842
23	lnc-SEPT7L-2	chr10:38973919-38974323	NONHSAT012836
24	lnc-SEPT7L-2	chr10:38943366-38943515	ENSG00000233867
25	lnc-ZNF37A-5	chr10:39011180-39011260	NONHSAT012839
26	lnc-ZNF37A-18	chr10:39051186-39051266	NONHSAT012840
27	lnc-SEPT7L-2	chr10:38979450-38979558	NONHSAT012836
28	lnc-SEPT7L-2	chr10:38979450-38979558	NONHSAT012838
29	lnc-ZNF37A-5	chr10:39012283-39012360	NONHSAT012839
30	lnc-SEPT7L-2	chr10:38982029-38982199	NONHSAT012835
31	lnc-SEPT7L-2	chr10:38978430-38978565	NONHSAT012838
32	lnc-SEPT7L-2	chr10:38965036-38965210	ENSG00000233867
33	lnc-SEPT7L-2	chr10:38984365-38984470	NONHSAT012836
34	lnc-SEPT7L-2	chr10:39017958-39018085	NONHSAT012838
35	lnc-ZNF37A-5	chr10:39012283-39012507	ENSG00000234541
36	lnc-SEPT7L-2	chr10:38982029-38982200	ENSG00000233867
37	lnc-SEPT7L-2	chr10:38977952-38978079	NONHSAT012835
38	lnc-SEPT7L-2	chr10:39019400-39019542	NONHSAT012836
39	lnc-SEPT7L-2	chr10:38978430-38978565	NONHSAT012836
40	lnc-SEPT7L-2	chr10:38938424-38938559	ENSG00000233867
41	lnc-SEPT7L-2	chr10:38982029-38982200	ENSG00000233867
42	lnc-SEPT7L-2	chr10:38979394-38979536	NONHSAT012835
43	lnc-SEPT7L-2	chr10:38933913-38934317	ENSG00000233867
44	lnc-SEPT7L-2	chr10:38979394-38979536	ENSG00000233867
45	lnc-SEPT7L-2	chr10:38983372-38983415	NONHSAT012837
46	lnc-SEPT7L-2	chr10:38939444-38939552	ENSG00000233867
47	lnc-SEPT7L-2	chr10:38977952-38978079	ENSG00000233867
48	lnc-SEPT7L-2	chr10:38943366-38943515	NONHSAT012835
49	lnc-SEPT7L-2	chr10:38939444-38939552	NONHSAT012835
50	lnc-SEPT7L-2	chr10:38944359-38944464	ENSG00000233867

No data

Variant related genes	Relation type
PABPC1P12	TF binding region
ENSG00000233832	TF binding region
CHEK2P5	TF binding region
ENSG00000227679	TF binding region
ACTR3BP5	TF binding region
SLC9B1P3	TF binding region
PABPC1P12	CpG island
ENSG00000233832	CpG island
CHEK2P5	CpG island
ENSG00000227679	CpG island
ACTR3BP5	CpG island
SLC9B1P3	CpG island

Extended variants
information (count: 1877 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:1877 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4070430	chr10:38924048-38924049	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs185762404	chr10:38924053-38924054	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs573288876	chr10:38924068-38924069	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs558414631	chr10:38924082-38924083	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs74137028	chr10:38924101-38924102	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs542244464	chr10:38924111-38924112	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs555838042	chr10:38924115-38924116	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs144853093	chr10:38924127-38924128	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs575773886	chr10:38924131-38924132	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs200271398	chr10:38924169-38924170	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs143917815	chr10:38924188-38924189	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs564525925	chr10:38924189-38924190	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs533647410	chr10:38924196-38924197	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs4070427	chr10:38924212-38924213	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs540585767	chr10:38924223-38924224	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs2310278	chr10:38924241-38924242	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs560875345	chr10:38924243-38924244	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs191014307	chr10:38924246-38924247	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs549443480	chr10:38924249-38924250	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs369557940	chr10:38924261-38924262	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs562959546	chr10:38924264-38924265	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs531849850	chr10:38924268-38924269	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs4070426	chr10:38924271-38924272	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs551527908	chr10:38924279-38924280	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs571369736	chr10:38924294-38924295	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs373004588	chr10:38924334-38924335	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs376223380	chr10:38924365-38924366	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs2310277	chr10:38924371-38924372	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs534030659	chr10:38924397-38924398	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs371916753	chr10:38924421-38924422	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs185617981	chr10:38924428-38924429	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs567269475	chr10:38924448-38924449	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs535835147	chr10:38924456-38924457	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs555750392	chr10:38924463-38924464	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs575685558	chr10:38924468-38924469	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs538376145	chr10:38924487-38924488	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs558294730	chr10:38924492-38924493	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs372558728	chr10:38924499-38924500	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs578098913	chr10:38924504-38924505	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs2310276	chr10:38924517-38924518	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs540849486	chr10:38924518-38924519	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs142656389	chr10:38924529-38924530	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs574424108	chr10:38924533-38924534	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs543000956	chr10:38924557-38924558	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs562871987	chr10:38924561-38924562	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs531808281	chr10:38924572-38924573	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs12265462	chr10:38924575-38924576	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs565409227	chr10:38924581-38924582	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs527494012	chr10:38924586-38924587	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs547611361	chr10:38924587-38924588	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:40)

Disease	PMID	Source
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	20459617	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Central neurocytomas	17123091	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	20967226	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:38968800-38969000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr10:39023200-39024000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:39029800-39031600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr10:39029800-39033800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr10:39034400-39035800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr10:39034400-39036000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr10:39034600-39036000	ZNF genes & repeats	Pancreas	Pancrea

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