Variant report

Variant	nsv1044251
Chromosome Location	chr10:43202223-43246796
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:121)
CpG islands
(count:244)
Chromatin interactive
region (count:3)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:121 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr10:43239265-43239373	K562	blood:	n/a	n/a
2	ATF1	chr10:43234242-43234371	K562	blood:	n/a	n/a
3	BATF	chr10:43218973-43219261	GM12878	blood:	n/a	n/a
4	CBX3	chr10:43236980-43237313	K562	blood:	n/a	n/a
5	CBX3	chr10:43237046-43237288	K562	blood:	n/a	n/a
6	CEBPB	chr10:43239164-43239414	K562	blood:	n/a	chr10:43239295-43239306
7	CEBPB	chr10:43204367-43204575	HepG2	liver:	n/a	chr10:43204513-43204524 chr10:43204512-43204525
8	CEBPB	chr10:43230096-43230321	MCF-7	breast:	n/a	n/a
9	CEBPB	chr10:43230108-43230288	K562	blood:	n/a	n/a
10	CEBPB	chr10:43239156-43239359	HepG2	liver:	n/a	chr10:43239295-43239306
11	CEBPB	chr10:43239152-43239453	K562	blood:	n/a	chr10:43239295-43239306
12	CTCF	chr10:43202780-43202930	Caco-2	colon:	n/a	chr10:43202853-43202874 chr10:43202859-43202875 chr10:43202858-43202876
13	CTCF	chr10:43239800-43239950	RPTEC	kidney:	n/a	n/a
14	CTCF	chr10:43227840-43227846	MCF-7	breast:	n/a	n/a
15	CTCF	chr10:43202806-43202936	LNCaP	prostate:	n/a	chr10:43202853-43202874 chr10:43202859-43202875 chr10:43202858-43202876
16	CTCF	chr10:43232000-43232019	GM13976	blood:	n/a	n/a
17	CTCF	chr10:43239680-43239830	A549	lung:	n/a	n/a
18	CTCF	chr10:43202816-43202952	K562	blood:	n/a	chr10:43202853-43202874 chr10:43202859-43202875 chr10:43202858-43202876
19	CTCF	chr10:43239740-43239890	NB4	blood:	n/a	n/a
20	CTCF	chr10:43214038-43214096	GM13976	blood:	n/a	n/a
21	CTCF	chr10:43239660-43239810	WERI-Rb-1	eye:	n/a	n/a
22	CTCF	chr10:43239740-43239890	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr10:43239660-43239810	MCF-7	breast:	n/a	n/a
24	CTCF	chr10:43202803-43202918	HepG2	liver:	n/a	chr10:43202853-43202874 chr10:43202859-43202875 chr10:43202858-43202876
25	CTCF	chr10:43239680-43239830	BE2_C	brain:	n/a	n/a
26	CTCF	chr10:43239660-43239810	HCT-116	colon:	n/a	n/a
27	CTCF	chr10:43235596-43235668	Lung_OC	lung:	n/a	n/a
28	CTCF	chr10:43238719-43238773	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr10:43239660-43239810	AoAF	blood vessel:	n/a	n/a
30	CTCF	chr10:43202842-43202909	GM12878	blood:	n/a	chr10:43202853-43202874 chr10:43202859-43202875 chr10:43202858-43202876
31	CTCF	chr10:43227852-43227855	MCF-7	breast:	n/a	n/a
32	CTCF	chr10:43239756-43239821	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr10:43202807-43202937	LNCaP	prostate:	n/a	chr10:43202853-43202874 chr10:43202859-43202875 chr10:43202858-43202876
34	CTCF	chr10:43239720-43239870	SK-N-SH_RA	brain:	n/a	n/a
35	CTCF	chr10:43220211-43220224	LNCaP	prostate:	n/a	n/a
36	CTCF	chr10:43220104-43220263	K562	blood:	n/a	chr10:43220223-43220232
37	CTCF	chr10:43239760-43239910	K562	blood:	n/a	n/a
38	CTCF	chr10:43239440-43239590	RPTEC	kidney:	n/a	n/a
39	CTCF	chr10:43239700-43239850	SK-N-SH_RA	brain:	n/a	n/a
40	CTCF	chr10:43202793-43202927	Pancreas_OC	pancreas:	n/a	chr10:43202853-43202874 chr10:43202859-43202875 chr10:43202858-43202876
41	CTCF	chr10:43239644-43239874	K562	blood:	n/a	n/a
42	CTCF	chr10:43239720-43239870	BE2_C	brain:	n/a	n/a
43	CTCF	chr10:43239700-43239850	GM12870	blood:	n/a	n/a
44	CTCF	chr10:43239700-43239850	HUVEC	blood vessel:	n/a	n/a
45	CTCF	chr10:43239703-43239843	HepG2	liver:	n/a	n/a
46	CTCF	chr10:43239660-43239810	HepG2	liver:	n/a	n/a
47	CTCF	chr10:43245755-43245784	Lung_OC	lung:	n/a	n/a
48	CTCF	chr10:43227758-43227967	GM19239	blood:	n/a	n/a
49	CTCF	chr10:43239713-43239845	K562	blood:	n/a	n/a
50	CTCF	chr10:43239720-43239870	HPAF	blood vessel:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:43216927-43216977	GM12878	blood:	n/a
2	chr10:43216927-43216977	HCF	heart:	n/a
3	chr10:43216927-43216977	SK-N-SH_RA	brain:	n/a
4	chr10:43215944-43215994	GM19239	blood:	n/a
5	chr10:43216927-43216977	U87	brain:	n/a
6	chr10:43215944-43215994	SK-N-SH	brain:	n/a
7	chr10:43216927-43216977	MCF10A-Er-Src	breast:	n/a
8	chr10:43209934-43209984	NT2-D1	testis:	n/a
9	chr10:43209934-43209984	NHBE	bronchial:	n/a
10	chr10:43215944-43215994	HCT-116	colon:	n/a
11	chr10:43245080-43245130	AoSMC	blood vessel:	n/a
12	chr10:43245080-43245130	PANC-1	pancreas:	n/a
13	chr10:43245080-43245130	ovcar-3	ovarian:	n/a
14	chr10:43215944-43215994	A549	lung:	n/a
15	chr10:43216927-43216977	PFSK-1	brain:	n/a
16	chr10:43215944-43215994	BE2_C	brain:	n/a
17	chr10:43216927-43216977	HRPEpiC	eye:	n/a
18	chr10:43209934-43209984	HCF	heart:	n/a
19	chr10:43216927-43216977	H1-hESC	embryonic stem cell:	embryo
20	chr10:43215944-43215994	GM12892	blood:	n/a
21	chr10:43215944-43215994	HCPEpiC	choroid plexus:	n/a
22	chr10:43209934-43209984	HRCEpiC	kidney:	n/a
23	chr10:43215944-43215994	HEEpiC	esophagus:	n/a
24	chr10:43209934-43209984	HUVEC	blood vessel:	n/a
25	chr10:43215944-43215994	AG09309	skin:	n/a
26	chr10:43215944-43215994	HAEpiC	amniotic membrane:	n/a
27	chr10:43209934-43209984	HL-60	blood:	n/a
28	chr10:43209934-43209984	BE2_C	brain:	n/a
29	chr10:43215944-43215994	HepG2	liver:	n/a
30	chr10:43245080-43245130	RPTEC	kidney:	n/a
31	chr10:43216927-43216977	SK-N-SH	brain:	n/a
32	chr10:43216927-43216977	T-47D	breast:	n/a
33	chr10:43209934-43209984	GM19239	blood:	n/a
34	chr10:43245080-43245130	SK-N-SH	brain:	n/a
35	chr10:43216927-43216977	HRCEpiC	kidney:	n/a
36	chr10:43245080-43245130	ProgFib	skin:	n/a
37	chr10:43215944-43215994	IMR90	lung:	fetal
38	chr10:43215944-43215994	Hela-S3	cervix:	n/a
39	chr10:43216927-43216977	HCPEpiC	choroid plexus:	n/a
40	chr10:43216927-43216977	ECC-1	luminal epithelium:	n/a
41	chr10:43216927-43216977	HUVEC	blood vessel:	n/a
42	chr10:43216927-43216977	HAEpiC	amniotic membrane:	n/a
43	chr10:43215944-43215994	AG10803	skin:	n/a
44	chr10:43245080-43245130	HIPEpiC	eye:	n/a
45	chr10:43245080-43245130	NHDF-neo	bronchial:	n/a
46	chr10:43209934-43209984	HCT-116	colon:	n/a
47	chr10:43245080-43245130	Hepatocyte	liver:	n/a
48	chr10:43215944-43215994	T-47D	breast:	n/a
49	chr10:43245080-43245130	HRCEpiC	kidney:	n/a
50	chr10:43209934-43209984	ProgFib	skin:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:43203133..43206798-chr10:43276930..43278950,3	MCF-7	breast:
2	chr10:43245352..43247530-chr10:43276802..43279739,2	K562	blood:
3	chr10:43228372..43230638-chr10:43276090..43278496,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BMS1-4	chr10:43237124-43237260	NONHSAT012928
2	lnc-ZNF33B-2	chr10:43246626-43247593	ENSG00000259869.1
3	lnc-BMS1-4	chr10:43236406-43236520	NONHSAT012928
4	lnc-BMS1-4	chr10:43236053-43236103	NONHSAT012928

No data

Variant related genes	Relation type
RSU1P1	TF binding region
DUXAP3	TF binding region
CUBNP1	TF binding region
RSU1P1	CpG island
DUXAP3	CpG island
CUBNP1	CpG island
ENSG00000165733	chromatin interactions

Extended variants
information (count: 991 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:991 , 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	rs546250096	chr10:43202605-43202606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571223778	chr10:43202609-43202610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190876054	chr10:43202632-43202633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531034494	chr10:43202634-43202635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557056012	chr10:43202668-43202669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569067857	chr10:43202721-43202722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536476289	chr10:43202799-43202800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111965806	chr10:43202834-43202835	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs374573435	chr10:43202876-43202877	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs182005801	chr10:43202892-43202893	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs558640229	chr10:43202904-43202905	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs577211044	chr10:43202959-43202960	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs148888894	chr10:43202984-43202985	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs543793611	chr10:43203008-43203009	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs372372757	chr10:43203022-43203023	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs375957570	chr10:43203028-43203029	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs541985743	chr10:43203030-43203031	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs594295	chr10:43203060-43203061	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs185018579	chr10:43203064-43203065	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs552843168	chr10:43203070-43203071	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs564716129	chr10:43203076-43203077	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs595149	chr10:43203245-43203246	Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs199809259	chr10:43203269-43203270	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs568071399	chr10:43203284-43203285	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs116271387	chr10:43203286-43203287	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs374754134	chr10:43203309-43203310	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs569004234	chr10:43203313-43203314	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs1830491	chr10:43203315-43203316	Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs191138987	chr10:43203321-43203322	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs144091768	chr10:43203322-43203323	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs533836726	chr10:43203324-43203325	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs146527889	chr10:43203345-43203346	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs562498790	chr10:43203359-43203360	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs58777155	chr10:43203363-43203364	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs577147723	chr10:43203433-43203434	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs538272512	chr10:43203438-43203439	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs556154373	chr10:43203470-43203471	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs574564604	chr10:43203495-43203496	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs541922563	chr10:43203513-43203514	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs560270793	chr10:43203553-43203554	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs572637860	chr10:43203555-43203556	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs546175026	chr10:43203581-43203582	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs560310534	chr10:43203587-43203588	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs182660969	chr10:43203613-43203614	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs114019410	chr10:43203630-43203631	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs550570145	chr10:43203647-43203648	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs529049200	chr10:43203658-43203659	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs562473562	chr10:43203661-43203662	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs543779	chr10:43203674-43203675	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs188127880	chr10:43203687-43203688	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
Autism	20531469	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21781307	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43202600-43202800	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr10:43202800-43203600	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr10:43212600-43213000	Enhancers	Spleen	Spleen
4	chr10:43212800-43213000	Enhancers	HepG2	liver
5	chr10:43213000-43215800	Weak transcription	Spleen	Spleen
6	chr10:43215800-43216200	ZNF genes & repeats	Spleen	Spleen
7	chr10:43217600-43218000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr10:43227800-43228000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr10:43227800-43228000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr10:43230000-43230400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr10:43232600-43235200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr10:43233200-43235600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr10:43235200-43235400	Enhancers	Gastric	stomach
14	chr10:43241400-43241600	Enhancers	K562	blood
15	chr10:43241600-43242400	Active TSS	K562	blood

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