Variant report

Variant	nsv1043050
Chromosome Location	chr10:39013516-39074038
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	chr10:39056264-39056575	GM12878	blood:	n/a	chr10:39056419-39056430
2	BATF	chr10:39069131-39069332	GM12878	blood:	n/a	n/a
3	BATF	chr10:39066194-39066341	GM12878	blood:	n/a	n/a
4	BATF	chr10:39026887-39027079	GM12878	blood:	n/a	n/a
5	BCL11A	chr10:39066172-39066370	GM12878	blood:	n/a	n/a
6	BCL11A	chr10:39057780-39057946	GM12878	blood:	n/a	n/a
7	BCL11A	chr10:39070088-39070283	GM12878	blood:	n/a	n/a
8	BCL11A	chr10:39055155-39055331	GM12878	blood:	n/a	n/a
9	BCL11A	chr10:39066112-39066389	GM12878	blood:	n/a	n/a
10	BCL11A	chr10:39071173-39071414	GM12878	blood:	n/a	n/a
11	BHLHE40	chr10:39067039-39067285	HepG2	liver:	n/a	n/a
12	CEBPB	chr10:39037900-39037952	A549	lung:	n/a	n/a
13	CTCF	chr10:39070567-39071010	A549	lung:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
14	CTCF	chr10:39022260-39022342	GM13976	blood:	n/a	n/a
15	CTCF	chr10:39038829-39038908	LNCaP	prostate:	n/a	n/a
16	CTCF	chr10:39070740-39070890	HVMF	connective:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
17	CTCF	chr10:39070806-39070856	Spleen_OC	spleen:	n/a	n/a
18	CTCF	chr10:39070700-39070850	HPAF	blood vessel:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
19	CTCF	chr10:39070727-39070893	HUVEC	blood vessel:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
20	CTCF	chr10:39070700-39070850	AG09319	gingival:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
21	CTCF	chr10:39070618-39070992	A549	lung:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
22	CTCF	chr10:39070720-39070870	GM12873	blood:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
23	CTCF	chr10:39070696-39070929	K562	blood:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
24	CTCF	chr10:39040660-39040679	Kidney_OC	kidney:	n/a	n/a
25	CTCF	chr10:39062460-39062511	GM10248	blood:	n/a	n/a
26	CTCF	chr10:39070760-39070910	BJ	skin:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
27	CTCF	chr10:39070578-39071034	A549	lung:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
28	CTCF	chr10:39070749-39070883	K562	blood:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
29	CTCF	chr10:39070623-39070912	A549	lung:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
30	CTCF	chr10:39070760-39070910	AG09319	gingival:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
31	CTCF	chr10:39070694-39070843	K562	blood:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
32	CTCF	chr10:39070720-39070870	HPAF	blood vessel:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
33	CTCF	chr10:39070760-39070910	NHDF-neo	bronchial:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
34	CTCF	chr10:39070790-39070889	Hela-S3	cervix:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
35	EBF1	chr10:39051970-39052126	GM12878	blood:	n/a	n/a
36	EBF1	chr10:39058913-39059126	GM12878	blood:	n/a	n/a
37	EBF1	chr10:39068951-39069315	GM12878	blood:	n/a	n/a
38	EP300	chr10:39066134-39066409	GM12878	blood:	n/a	chr10:39066164-39066174
39	EP300	chr10:39053300-39053780	GM12878	blood:	n/a	chr10:39053310-39053324
40	EP300	chr10:39071168-39071389	GM12878	blood:	n/a	n/a
41	EP300	chr10:39066449-39066774	GM12878	blood:	n/a	n/a
42	EP300	chr10:39057630-39058234	GM12878	blood:	n/a	n/a
43	EP300	chr10:39022205-39022475	GM12878	blood:	n/a	n/a
44	EP300	chr10:39068908-39069294	GM12878	blood:	n/a	n/a
45	EP300	chr10:39055105-39055340	GM12878	blood:	n/a	chr10:39055206-39055215
46	EP300	chr10:39016635-39016982	GM12878	blood:	n/a	n/a
47	FOS	chr10:39048012-39048048	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr10:39048030-39048048	MCF10A-Er-Src	breast:	n/a	n/a
49	FOSL2	chr10:39047741-39048392	HepG2	liver:	n/a	chr10:39048064-39048075 chr10:39048067-39048075 chr10:39048066-39048076 chr10:39048065-39048077 chr10:39048066-39048076
50	FOSL2	chr10:39022104-39022588	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:39024195-39024245	NT2-D1	testis:	n/a
2	chr10:39024195-39024245	NT2-D1	testis:	n/a
3	chr10:39023676-39023726	HRPEpiC	eye:	n/a
4	chr10:39020983-39021033	HIPEpiC	eye:	n/a
5	chr10:39020983-39021033	SK-N-MC	brain:	n/a
6	chr10:39024087-39024137	NB4	blood:	n/a
7	chr10:39024087-39024137	SAEC	small airway:	n/a
8	chr10:39020983-39021033	HUVEC	blood vessel:	n/a
9	chr10:39023676-39023726	NT2-D1	testis:	n/a
10	chr10:39023768-39023818	IMR90	lung:	fetal
11	chr10:39023676-39023726	NH-A	brain:	n/a
12	chr10:39023095-39023145	ProgFib	skin:	n/a
13	chr10:39024195-39024245	NB4	blood:	n/a
14	chr10:39024087-39024137	RPTEC	kidney:	n/a
15	chr10:39023095-39023145	AG04449	skin:	fetal
16	chr10:39023045-39023095	HCF	heart:	n/a
17	chr10:39024195-39024245	AG09319	gingival:	n/a
18	chr10:39023768-39023818	HCF	heart:	n/a
19	chr10:39020983-39021033	AG10803	skin:	n/a
20	chr10:39024195-39024245	MCF10A-Er-Src	breast:	n/a
21	chr10:39023045-39023095	RPTEC	kidney:	n/a
22	chr10:39024195-39024245	Jurkat	blood:	n/a
23	chr10:39024195-39024245	AG09309	skin:	n/a
24	chr10:39020983-39021033	HEK293	kidney:	embryo
25	chr10:39020983-39021033	NHDF-neo	bronchial:	n/a
26	chr10:39023676-39023726	HEK293	kidney:	embryo
27	chr10:39023045-39023095	HepG2	liver:	n/a
28	chr10:39023045-39023095	MCF10A-Er-Src	breast:	n/a
29	chr10:39023768-39023818	HAEpiC	amniotic membrane:	n/a
30	chr10:39023045-39023095	Caco-2	colon:	n/a
31	chr10:39023768-39023818	SAEC	small airway:	n/a
32	chr10:39023045-39023095	A549	lung:	n/a
33	chr10:39024195-39024245	T-47D	breast:	n/a
34	chr10:39024087-39024137	PFSK-1	brain:	n/a
35	chr10:39024195-39024245	SK-N-SH_RA	brain:	n/a
36	chr10:39024195-39024245	HCF	heart:	n/a
37	chr10:39023768-39023818	AG04450	lung:	fetal
38	chr10:39020983-39021033	HCM	heart:	n/a
39	chr10:39024195-39024245	LNCaP	prostate:	n/a
40	chr10:39024195-39024245	HUVEC	blood vessel:	n/a
41	chr10:39024087-39024137	ECC-1	luminal epithelium:	n/a
42	chr10:39024087-39024137	T-47D	breast:	n/a
43	chr10:39023768-39023818	SK-N-SH	brain:	n/a
44	chr10:39024087-39024137	SK-N-SH	brain:	n/a
45	chr10:39024087-39024137	HRE	kidney:	n/a
46	chr10:39024195-39024245	MCF-7	breast:	n/a
47	chr10:39024087-39024137	K562	blood:	n/a
48	chr10:39023768-39023818	Hela-S3	cervix:	n/a
49	chr10:39024087-39024137	Hela-S3	cervix:	n/a
50	chr10:39024087-39024137	GM12891	blood:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF37A-18	chr10:39052289-39052613	NONHSAT012840
2	lnc-ZNF37A-18	chr10:39052289-39052513	NONHSAT012841
3	lnc-SEPT7L-2	chr10:39022035-39022206	NONHSAT012836
4	lnc-ZNF37A-18	chr10:39046332-39046418	NONHSAT012840
5	lnc-SEPT7L-2	chr10:39019400-39019542	NONHSAT012838
6	lnc-SEPT7L-2	chr10:39017958-39018085	NONHSAT012838
7	lnc-ZNF37A-18	chr10:39051186-39051266	NONHSAT012840
8	lnc-SEPT7L-6	chr10:39055226-39055622	NONHSAT012842
9	lnc-ZNF37A-18	chr10:39050990-39051266	NONHSAT012841
10	lnc-SEPT7L-2	chr10:39022035-39022206	NONHSAT012838
11	lnc-SEPT7L-2	chr10:39019400-39019542	NONHSAT012836
12	lnc-SEPT7L-2	chr10:39017958-39018085	NONHSAT012836

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

Extended variants
information (count: 1160 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:1160 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188079659	chr10:39017969-39017970	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs563373232	chr10:39017995-39017996	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs532352502	chr10:39018004-39018005	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs370554555	chr10:39018025-39018026	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs534459165	chr10:39018028-39018029	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs559607306	chr10:39018046-39018047	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs554179511	chr10:39018055-39018056	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs528066480	chr10:39018056-39018057	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs191902648	chr10:39018068-39018069	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs142520251	chr10:39018084-39018085	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs560083072	chr10:39019466-39019467	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs200013808	chr10:39019467-39019468	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs529271857	chr10:39019471-39019472	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs71500453	chr10:39019486-39019487	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs569261242	chr10:39019487-39019488	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs531524651	chr10:39019495-39019496	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs551314636	chr10:39019501-39019502	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs571502873	chr10:39019505-39019506	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs534044009	chr10:39019520-39019521	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs374155484	chr10:39019524-39019525	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs554129856	chr10:39019536-39019537	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs528702436	chr10:39022042-39022043	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs542467660	chr10:39022059-39022060	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs562284413	chr10:39022065-39022066	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs4092371	chr10:39022095-39022096	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs4092370	chr10:39022119-39022120	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs4092369	chr10:39022120-39022121	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs530930409	chr10:39022127-39022128	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs550726263	chr10:39022139-39022140	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs570592880	chr10:39022200-39022201	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs547688395	chr10:39023209-39023210	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs553245266	chr10:39023226-39023227	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs536251232	chr10:39023227-39023228	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs10781595	chr10:39023235-39023236	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs569460965	chr10:39023243-39023244	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs538029437	chr10:39023248-39023249	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs557966548	chr10:39023264-39023265	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs117992367	chr10:39023288-39023289	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs201794156	chr10:39023306-39023307	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs10781596	chr10:39023315-39023316	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs554452111	chr10:39023318-39023319	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs35143038	chr10:39023327-39023328	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs11146646	chr10:39023368-39023369	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs556360217	chr10:39023372-39023373	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs7901926	chr10:39023378-39023379	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs545531687	chr10:39023384-39023385	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs66795884	chr10:39023385-39023386	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs565045685	chr10:39023393-39023394	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs527485337	chr10:39023423-39023424	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs540927483	chr10:39023424-39023425	ZNF genes & repeats	n/a	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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