Variant report

Variant	nsv1052498
Chromosome Location	chr10:39010615-39074038
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	chr10:39056264-39056575	GM12878	blood:	n/a	chr10:39056419-39056430
3	BATF	chr10:39066194-39066341	GM12878	blood:	n/a	n/a
4	BATF	chr10:39011913-39012229	GM12878	blood:	n/a	n/a
5	BATF	chr10:39026887-39027079	GM12878	blood:	n/a	n/a
6	BATF	chr10:39012008-39012251	GM12878	blood:	n/a	n/a
7	BCL11A	chr10:39057780-39057946	GM12878	blood:	n/a	n/a
8	BCL11A	chr10:39071173-39071414	GM12878	blood:	n/a	n/a
9	BCL11A	chr10:39066172-39066370	GM12878	blood:	n/a	n/a
10	BCL11A	chr10:39055155-39055331	GM12878	blood:	n/a	n/a
11	BCL11A	chr10:39070088-39070283	GM12878	blood:	n/a	n/a
12	BCL11A	chr10:39066112-39066389	GM12878	blood:	n/a	n/a
13	BHLHE40	chr10:39067039-39067285	HepG2	liver:	n/a	n/a
14	CEBPB	chr10:39037900-39037952	A549	lung:	n/a	n/a
15	CTCF	chr10:39040660-39040679	Kidney_OC	kidney:	n/a	n/a
16	CTCF	chr10:39022260-39022342	GM13976	blood:	n/a	n/a
17	CTCF	chr10:39070700-39070850	HPAF	blood vessel:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
18	CTCF	chr10:39070740-39070890	HVMF	connective:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
19	CTCF	chr10:39070694-39070843	K562	blood:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
20	CTCF	chr10:39062460-39062511	GM10248	blood:	n/a	n/a
21	CTCF	chr10:39070749-39070883	K562	blood:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
22	CTCF	chr10:39070760-39070910	BJ	skin:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
23	CTCF	chr10:39070727-39070893	HUVEC	blood vessel:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
24	CTCF	chr10:39070760-39070910	NHDF-neo	bronchial:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
25	CTCF	chr10:39070720-39070870	GM12873	blood:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
26	CTCF	chr10:39070567-39071010	A549	lung:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
27	CTCF	chr10:39070790-39070889	Hela-S3	cervix:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
28	CTCF	chr10:39038829-39038908	LNCaP	prostate:	n/a	n/a
29	CTCF	chr10:39070578-39071034	A549	lung:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
30	CTCF	chr10:39070806-39070856	Spleen_OC	spleen:	n/a	n/a
31	CTCF	chr10:39070760-39070910	AG09319	gingival:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
32	CTCF	chr10:39070700-39070850	AG09319	gingival:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
33	CTCF	chr10:39070623-39070912	A549	lung:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
34	CTCF	chr10:39070618-39070992	A549	lung:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
35	CTCF	chr10:39070720-39070870	HPAF	blood vessel:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
36	CTCF	chr10:39070696-39070929	K562	blood:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
37	EBF1	chr10:39058913-39059126	GM12878	blood:	n/a	n/a
38	EBF1	chr10:39068951-39069315	GM12878	blood:	n/a	n/a
39	EBF1	chr10:39051970-39052126	GM12878	blood:	n/a	n/a
40	EP300	chr10:39022205-39022475	GM12878	blood:	n/a	n/a
41	EP300	chr10:39053300-39053780	GM12878	blood:	n/a	chr10:39053310-39053324
42	EP300	chr10:39016635-39016982	GM12878	blood:	n/a	n/a
43	EP300	chr10:39071168-39071389	GM12878	blood:	n/a	n/a
44	EP300	chr10:39066134-39066409	GM12878	blood:	n/a	chr10:39066164-39066174
45	EP300	chr10:39068908-39069294	GM12878	blood:	n/a	n/a
46	EP300	chr10:39011094-39011413	GM12878	blood:	n/a	chr10:39011317-39011331
47	EP300	chr10:39066449-39066774	GM12878	blood:	n/a	n/a
48	EP300	chr10:39057630-39058234	GM12878	blood:	n/a	n/a
49	EP300	chr10:39055105-39055340	GM12878	blood:	n/a	chr10:39055206-39055215
50	FOS	chr10:39048030-39048048	MCF10A-Er-Src	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:39023768-39023818	GM19239	blood:	n/a
2	chr10:39020983-39021033	HRPEpiC	eye:	n/a
3	chr10:39023045-39023095	GM19239	blood:	n/a
4	chr10:39023095-39023145	HCT-116	colon:	n/a
5	chr10:39023095-39023145	AoSMC	blood vessel:	n/a
6	chr10:39023045-39023095	NHDF-neo	bronchial:	n/a
7	chr10:39023045-39023095	HEK293	kidney:	embryo
8	chr10:39024087-39024137	HEEpiC	esophagus:	n/a
9	chr10:39024087-39024137	NT2-D1	testis:	n/a
10	chr10:39023095-39023145	HCPEpiC	choroid plexus:	n/a
11	chr10:39023045-39023095	IMR90	lung:	fetal
12	chr10:39023095-39023145	SKMC	muscle:	n/a
13	chr10:39024087-39024137	NHDF-neo	bronchial:	n/a
14	chr10:39023095-39023145	SK-N-MC	brain:	n/a
15	chr10:39023045-39023095	HEEpiC	esophagus:	n/a
16	chr10:39023676-39023726	U87	brain:	n/a
17	chr10:39023676-39023726	NT2-D1	testis:	n/a
18	chr10:39023676-39023726	NHBE	bronchial:	n/a
19	chr10:39023045-39023095	NB4	blood:	n/a
20	chr10:39023045-39023095	SK-N-MC	brain:	n/a
21	chr10:39023676-39023726	T-47D	breast:	n/a
22	chr10:39023676-39023726	GM12892	blood:	n/a
23	chr10:39023768-39023818	NHDF-neo	bronchial:	n/a
24	chr10:39023095-39023145	GM12878	blood:	n/a
25	chr10:39024195-39024245	BE2_C	brain:	n/a
26	chr10:39023676-39023726	HRCEpiC	kidney:	n/a
27	chr10:39023768-39023818	Hepatocyte	liver:	n/a
28	chr10:39023676-39023726	HPAEpiC	pulmonary alveolar:	n/a
29	chr10:39023095-39023145	ECC-1	luminal epithelium:	n/a
30	chr10:39023676-39023726	HRPEpiC	eye:	n/a
31	chr10:39023045-39023095	SAEC	small airway:	n/a
32	chr10:39023045-39023095	SKMC	muscle:	n/a
33	chr10:39024195-39024245	HEK293	kidney:	embryo
34	chr10:39023095-39023145	HRE	kidney:	n/a
35	chr10:39023768-39023818	HPAEpiC	pulmonary alveolar:	n/a
36	chr10:39020983-39021033	NH-A	brain:	n/a
37	chr10:39024087-39024137	HCPEpiC	choroid plexus:	n/a
38	chr10:39024195-39024245	SK-N-MC	brain:	n/a
39	chr10:39024087-39024137	PANC-1	pancreas:	n/a
40	chr10:39023045-39023095	HCPEpiC	choroid plexus:	n/a
41	chr10:39023676-39023726	HEEpiC	esophagus:	n/a
42	chr10:39024195-39024245	BJ	skin:	n/a
43	chr10:39023045-39023095	AG09319	gingival:	n/a
44	chr10:39024195-39024245	HPAEpiC	pulmonary alveolar:	n/a
45	chr10:39023045-39023095	HUVEC	blood vessel:	n/a
46	chr10:39023768-39023818	CMK	blood:	n/a
47	chr10:39023676-39023726	SAEC	small airway:	n/a
48	chr10:39023768-39023818	AG04450	lung:	fetal
49	chr10:39020983-39021033	RPTEC	kidney:	n/a
50	chr10:39023045-39023095	Jurkat	blood:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF37A-5	chr10:39010984-39011260	ENSG00000234541
2	lnc-SEPT7L-2	chr10:39017958-39018085	NONHSAT012836
3	lnc-SEPT7L-2	chr10:39019400-39019542	NONHSAT012836
4	lnc-SEPT7L-2	chr10:39022035-39022206	NONHSAT012836
5	lnc-ZNF37A-18	chr10:39046332-39046418	NONHSAT012840
6	lnc-ZNF37A-18	chr10:39051186-39051266	NONHSAT012840
7	lnc-ZNF37A-5	chr10:39012283-39012607	ENSG00000234541
8	lnc-ZNF37A-5	chr10:39012283-39012360	NONHSAT012839
9	lnc-SEPT7L-2	chr10:39017958-39018085	NONHSAT012838
10	lnc-ZNF37A-5	chr10:39011180-39011260	ENSG00000234541
11	lnc-ZNF37A-5	chr10:39011180-39011260	NONHSAT012839
12	lnc-ZNF37A-18	chr10:39050990-39051266	NONHSAT012841
13	lnc-ZNF37A-5	chr10:39012283-39012507	ENSG00000234541
14	lnc-SEPT7L-6	chr10:39055226-39055622	NONHSAT012842
15	lnc-ZNF37A-18	chr10:39052289-39052613	NONHSAT012840
16	lnc-SEPT7L-2	chr10:39022035-39022206	NONHSAT012838
17	lnc-ZNF37A-18	chr10:39052289-39052513	NONHSAT012841
18	lnc-SEPT7L-2	chr10:39019400-39019542	NONHSAT012838

Variant related genes	Relation type
ENSG00000233832	TF binding region
ENSG00000227679	TF binding region
ENSG00000233832	CpG island
ENSG00000227679	CpG island

Extended variants
information (count: 1207 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:1207 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534947836	chr10:39011008-39011009	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs189153831	chr10:39011017-39011018	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs183452431	chr10:39011029-39011030	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs574341359	chr10:39011040-39011041	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs74656471	chr10:39011062-39011063	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs75120951	chr10:39011063-39011064	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs79746246	chr10:39011076-39011077	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs556973670	chr10:39011080-39011081	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs576541018	chr10:39011092-39011093	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs192490904	chr10:39011104-39011105	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs369095325	chr10:39011105-39011106	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs185811636	chr10:39011106-39011107	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs541741370	chr10:39011116-39011117	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs76582232	chr10:39011126-39011127	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs561435797	chr10:39011132-39011133	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs2208481	chr10:39011138-39011139	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs2310211	chr10:39011152-39011153	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs563731484	chr10:39011156-39011157	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs189075061	chr10:39011173-39011174	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs552380638	chr10:39011175-39011176	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs565918447	chr10:39011193-39011194	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs144319426	chr10:39011213-39011214	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs77404004	chr10:39011215-39011216	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs548436888	chr10:39011218-39011219	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs568269497	chr10:39011219-39011220	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs77501316	chr10:39011230-39011231	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs559981175	chr10:39011234-39011235	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs180982568	chr10:39011244-39011245	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs182919009	chr10:39012283-39012284	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs141334007	chr10:39012288-39012289	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs368981247	chr10:39012301-39012302	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs555511177	chr10:39012304-39012305	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs186866282	chr10:39012323-39012324	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs574709851	chr10:39012337-39012338	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs573267039	chr10:39012347-39012348	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs568051428	chr10:39012348-39012349	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs541991398	chr10:39012352-39012353	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs562225035	chr10:39012406-39012407	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs146995177	chr10:39012407-39012408	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs1672814	chr10:39012502-39012503	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs563998373	chr10:39012505-39012506	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs190125859	chr10:39012579-39012580	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs370679645	chr10:39012580-39012581	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs559919716	chr10:39012584-39012585	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs182708788	chr10:39012593-39012594	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs548777615	chr10:39012597-39012598	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs568937470	chr10:39012602-39012603	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs188079659	chr10:39017969-39017970	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs563373232	chr10:39017995-39017996	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs532352502	chr10:39018004-39018005	Inactive region	lncRNA	n/a	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:6 , 50 per page) page: 1

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

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