Variant report

Variant	nsv1036223
Chromosome Location	chr10:43199458-43246796
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:123)
CpG islands
(count:244)
Chromatin interactive
region (count:3)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:123 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr10:43234242-43234371	K562	blood:	n/a	n/a
2	ATF1	chr10:43239265-43239373	K562	blood:	n/a	n/a
3	BATF	chr10:43218973-43219261	GM12878	blood:	n/a	n/a
4	CBX3	chr10:43237046-43237288	K562	blood:	n/a	n/a
5	CBX3	chr10:43236980-43237313	K562	blood:	n/a	n/a
6	CEBPB	chr10:43239152-43239453	K562	blood:	n/a	chr10:43239295-43239306
7	CEBPB	chr10:43204367-43204575	HepG2	liver:	n/a	chr10:43204513-43204524 chr10:43204512-43204525
8	CEBPB	chr10:43239164-43239414	K562	blood:	n/a	chr10:43239295-43239306
9	CEBPB	chr10:43230096-43230321	MCF-7	breast:	n/a	n/a
10	CEBPB	chr10:43230108-43230288	K562	blood:	n/a	n/a
11	CEBPB	chr10:43239156-43239359	HepG2	liver:	n/a	chr10:43239295-43239306
12	CTCF	chr10:43202700-43202850	Caco-2	colon:	n/a	n/a
13	CTCF	chr10:43239740-43239890	NB4	blood:	n/a	n/a
14	CTCF	chr10:43227830-43227915	MCF-7	breast:	n/a	n/a
15	CTCF	chr10:43239703-43239843	HepG2	liver:	n/a	n/a
16	CTCF	chr10:43202861-43202903	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr10:43239800-43239950	RPTEC	kidney:	n/a	n/a
18	CTCF	chr10:43239700-43239850	K562	blood:	n/a	n/a
19	CTCF	chr10:43228363-43228436	GM13976	blood:	n/a	n/a
20	CTCF	chr10:43239540-43239810	HMF	breast:	n/a	n/a
21	CTCF	chr10:43239620-43239770	HCT-116	colon:	n/a	n/a
22	CTCF	chr10:43227852-43227855	MCF-7	breast:	n/a	n/a
23	CTCF	chr10:43202803-43202918	HepG2	liver:	n/a	chr10:43202853-43202874 chr10:43202859-43202875 chr10:43202858-43202876
24	CTCF	chr10:43232000-43232019	GM13976	blood:	n/a	n/a
25	CTCF	chr10:43242232-43242249	GM10266	blood:	n/a	n/a
26	CTCF	chr10:43239700-43239850	HEEpiC	esophagus:	n/a	n/a
27	CTCF	chr10:43239640-43239790	HCFaa	heart:	n/a	n/a
28	CTCF	chr10:43239720-43239870	MCF-7	breast:	n/a	n/a
29	CTCF	chr10:43202807-43202937	LNCaP	prostate:	n/a	chr10:43202853-43202874 chr10:43202859-43202875 chr10:43202858-43202876
30	CTCF	chr10:43202805-43202913	Kidney_OC	kidney:	n/a	chr10:43202853-43202874 chr10:43202859-43202875 chr10:43202858-43202876
31	CTCF	chr10:43239720-43239870	HEK293	kidney:	n/a	n/a
32	CTCF	chr10:43239720-43239870	HPAF	blood vessel:	n/a	n/a
33	CTCF	chr10:43239680-43239830	BE2_C	brain:	n/a	n/a
34	CTCF	chr10:43239440-43239590	RPTEC	kidney:	n/a	n/a
35	CTCF	chr10:43202816-43202952	K562	blood:	n/a	chr10:43202853-43202874 chr10:43202859-43202875 chr10:43202858-43202876
36	CTCF	chr10:43239640-43239790	GM12873	blood:	n/a	n/a
37	CTCF	chr10:43227758-43227967	GM19239	blood:	n/a	n/a
38	CTCF	chr10:43227840-43227846	MCF-7	breast:	n/a	n/a
39	CTCF	chr10:43239740-43239890	GM12864	blood:	n/a	n/a
40	CTCF	chr10:43239660-43239810	MCF-7	breast:	n/a	n/a
41	CTCF	chr10:43239720-43239870	AG04450	lung:	n/a	n/a
42	CTCF	chr10:43239720-43239870	SK-N-SH_RA	brain:	n/a	n/a
43	CTCF	chr10:43201282-43201346	GM10266	blood:	n/a	n/a
44	CTCF	chr10:43239660-43239810	HCT-116	colon:	n/a	n/a
45	CTCF	chr10:43202806-43202936	LNCaP	prostate:	n/a	chr10:43202853-43202874 chr10:43202859-43202875 chr10:43202858-43202876
46	CTCF	chr10:43239720-43239870	GM12872	blood:	n/a	n/a
47	CTCF	chr10:43239700-43239850	GM12870	blood:	n/a	n/a
48	CTCF	chr10:43239660-43239810	HMEC	breast:	n/a	n/a
49	CTCF	chr10:43214038-43214096	GM13976	blood:	n/a	n/a
50	CTCF	chr10:43239700-43239850	Caco-2	colon:	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	HEK293	kidney:	embryo
2	chr10:43245080-43245130	PFSK-1	brain:	n/a
3	chr10:43216927-43216977	HPAEpiC	pulmonary alveolar:	n/a
4	chr10:43215944-43215994	T-47D	breast:	n/a
5	chr10:43209934-43209984	SK-N-SH	brain:	n/a
6	chr10:43216927-43216977	NH-A	brain:	n/a
7	chr10:43245080-43245130	NHBE	bronchial:	n/a
8	chr10:43245080-43245130	BJ	skin:	n/a
9	chr10:43215944-43215994	AG04449	skin:	fetal
10	chr10:43215944-43215994	AoSMC	blood vessel:	n/a
11	chr10:43216927-43216977	HNPCEpiC	eye:	n/a
12	chr10:43216927-43216977	GM12892	blood:	n/a
13	chr10:43245080-43245130	HCT-116	colon:	n/a
14	chr10:43209934-43209984	AG04450	lung:	fetal
15	chr10:43215944-43215994	HL-60	blood:	n/a
16	chr10:43245080-43245130	SK-N-SH_RA	brain:	n/a
17	chr10:43215944-43215994	Jurkat	blood:	n/a
18	chr10:43215944-43215994	HPAEpiC	pulmonary alveolar:	n/a
19	chr10:43215944-43215994	U87	brain:	n/a
20	chr10:43209934-43209984	HL-60	blood:	n/a
21	chr10:43216927-43216977	GM12878	blood:	n/a
22	chr10:43216927-43216977	T-47D	breast:	n/a
23	chr10:43215944-43215994	BE2_C	brain:	n/a
24	chr10:43216927-43216977	HCM	heart:	n/a
25	chr10:43216927-43216977	NT2-D1	testis:	n/a
26	chr10:43209934-43209984	HPAEpiC	pulmonary alveolar:	n/a
27	chr10:43215944-43215994	AG09309	skin:	n/a
28	chr10:43215944-43215994	PFSK-1	brain:	n/a
29	chr10:43215944-43215994	SK-N-SH	brain:	n/a
30	chr10:43245080-43245130	IMR90	lung:	fetal
31	chr10:43209934-43209984	LNCaP	prostate:	n/a
32	chr10:43245080-43245130	HepG2	liver:	n/a
33	chr10:43209934-43209984	AG04449	skin:	fetal
34	chr10:43209934-43209984	AoSMC	blood vessel:	n/a
35	chr10:43216927-43216977	PANC-1	pancreas:	n/a
36	chr10:43215944-43215994	BJ	skin:	n/a
37	chr10:43245080-43245130	HPAEpiC	pulmonary alveolar:	n/a
38	chr10:43245080-43245130	GM06990	blood:	n/a
39	chr10:43216927-43216977	NB4	blood:	n/a
40	chr10:43215944-43215994	HRE	kidney:	n/a
41	chr10:43245080-43245130	NHDF-neo	bronchial:	n/a
42	chr10:43245080-43245130	HCM	heart:	n/a
43	chr10:43216927-43216977	HRPEpiC	eye:	n/a
44	chr10:43245080-43245130	HNPCEpiC	eye:	n/a
45	chr10:43209934-43209984	HRCEpiC	kidney:	n/a
46	chr10:43215944-43215994	GM06990	blood:	n/a
47	chr10:43245080-43245130	Jurkat	blood:	n/a
48	chr10:43215944-43215994	HUVEC	blood vessel:	n/a
49	chr10:43215944-43215994	MCF-7	breast:	n/a
50	chr10:43216927-43216977	IMR90	lung:	fetal

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

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

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BMS1-2	chr10:43198870-43201901	ENSG00000234864
2	lnc-ZNF33B-2	chr10:43246626-43247593	ENSG00000259869.1
3	lnc-BMS1-4	chr10:43237124-43237260	NONHSAT012928
4	lnc-BMS1-4	chr10:43236053-43236103	NONHSAT012928
5	lnc-BMS1-4	chr10:43236406-43236520	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: 1091 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1091 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7899278	chr10:43199458-43199459	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs570105742	chr10:43199460-43199461	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs181800496	chr10:43199470-43199471	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs555888550	chr10:43199486-43199487	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs539219877	chr10:43199515-43199516	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs186115513	chr10:43199525-43199526	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs541743607	chr10:43199533-43199534	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs553744049	chr10:43199577-43199578	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs367993559	chr10:43199602-43199603	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs145563841	chr10:43199649-43199650	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs545812536	chr10:43199657-43199658	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs544802028	chr10:43199666-43199667	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs72330835	chr10:43199667-43199668	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs34958866	chr10:43199756-43199757	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs35091781	chr10:43199829-43199830	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs563948471	chr10:43199843-43199844	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs546585591	chr10:43199845-43199846	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs531403318	chr10:43199892-43199893	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs543164051	chr10:43199930-43199931	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs190916979	chr10:43199936-43199937	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs566748234	chr10:43199965-43199966	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs367934200	chr10:43200057-43200058	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs35519871	chr10:43200117-43200118	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs529090554	chr10:43200127-43200128	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs547272586	chr10:43200134-43200135	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs182043459	chr10:43200196-43200197	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs186817202	chr10:43200198-43200199	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs528170413	chr10:43200199-43200200	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs372525187	chr10:43200264-43200265	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs190069044	chr10:43200294-43200295	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs537506303	chr10:43200297-43200298	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs555943157	chr10:43200302-43200303	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs17428288	chr10:43200304-43200305	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs535267065	chr10:43200336-43200337	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs553682634	chr10:43200382-43200383	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs183401010	chr10:43200404-43200405	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs188286019	chr10:43200432-43200433	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs537337638	chr10:43200449-43200450	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs138405887	chr10:43200460-43200461	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs557697347	chr10:43200503-43200504	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs575954161	chr10:43200513-43200514	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs369619826	chr10:43200538-43200539	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs113915814	chr10:43200550-43200551	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs573478144	chr10:43200559-43200560	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs577514481	chr10:43200581-43200582	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs185236830	chr10:43200583-43200584	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs564622824	chr10:43200597-43200598	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs533212143	chr10:43200624-43200625	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs551388477	chr10:43200627-43200628	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs563697753	chr10:43200635-43200636	Inactive region	lncRNA	n/a	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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