Variant report

Variant	nsv947888
Chromosome Location	chr10:43226419-43245022
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:87)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:87 , 50 per page) page: 1 2

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	CBX3	chr10:43236980-43237313	K562	blood:	n/a	n/a
4	CBX3	chr10:43237046-43237288	K562	blood:	n/a	n/a
5	CEBPB	chr10:43230096-43230321	MCF-7	breast:	n/a	n/a
6	CEBPB	chr10:43230108-43230288	K562	blood:	n/a	n/a
7	CEBPB	chr10:43239152-43239453	K562	blood:	n/a	chr10:43239295-43239306
8	CEBPB	chr10:43239164-43239414	K562	blood:	n/a	chr10:43239295-43239306
9	CEBPB	chr10:43239156-43239359	HepG2	liver:	n/a	chr10:43239295-43239306
10	CTCF	chr10:43239660-43239810	HCT-116	colon:	n/a	n/a
11	CTCF	chr10:43239720-43239870	SK-N-SH_RA	brain:	n/a	n/a
12	CTCF	chr10:43227852-43227855	MCF-7	breast:	n/a	n/a
13	CTCF	chr10:43239700-43239850	HEEpiC	esophagus:	n/a	n/a
14	CTCF	chr10:43239700-43239850	SK-N-SH_RA	brain:	n/a	n/a
15	CTCF	chr10:43239720-43239870	AG04450	lung:	n/a	n/a
16	CTCF	chr10:43239720-43239870	HPAF	blood vessel:	n/a	n/a
17	CTCF	chr10:43242232-43242249	GM10266	blood:	n/a	n/a
18	CTCF	chr10:43239720-43239870	MCF-7	breast:	n/a	n/a
19	CTCF	chr10:43239660-43239810	MCF-7	breast:	n/a	n/a
20	CTCF	chr10:43239740-43239890	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr10:43239760-43239910	K562	blood:	n/a	n/a
22	CTCF	chr10:43239740-43239890	GM12864	blood:	n/a	n/a
23	CTCF	chr10:43239660-43239810	WERI-Rb-1	eye:	n/a	n/a
24	CTCF	chr10:43239644-43239874	K562	blood:	n/a	n/a
25	CTCF	chr10:43239720-43239870	HEK293	kidney:	n/a	n/a
26	CTCF	chr10:43239640-43239790	HCFaa	heart:	n/a	n/a
27	CTCF	chr10:43239700-43239850	HUVEC	blood vessel:	n/a	n/a
28	CTCF	chr10:43239440-43239590	RPTEC	kidney:	n/a	n/a
29	CTCF	chr10:43239700-43239850	Caco-2	colon:	n/a	n/a
30	CTCF	chr10:43239720-43239870	GM12872	blood:	n/a	n/a
31	CTCF	chr10:43239620-43239770	HCT-116	colon:	n/a	n/a
32	CTCF	chr10:43239756-43239821	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr10:43239700-43239850	K562	blood:	n/a	n/a
34	CTCF	chr10:43239660-43239810	HepG2	liver:	n/a	n/a
35	CTCF	chr10:43239713-43239845	K562	blood:	n/a	n/a
36	CTCF	chr10:43232000-43232019	GM13976	blood:	n/a	n/a
37	CTCF	chr10:43240069-43240144	GM13976	blood:	n/a	n/a
38	CTCF	chr10:43227758-43227967	GM19239	blood:	n/a	n/a
39	CTCF	chr10:43235596-43235668	Lung_OC	lung:	n/a	n/a
40	CTCF	chr10:43227830-43227915	MCF-7	breast:	n/a	n/a
41	CTCF	chr10:43239703-43239843	HepG2	liver:	n/a	n/a
42	CTCF	chr10:43239680-43239830	A549	lung:	n/a	n/a
43	CTCF	chr10:43239540-43239810	HMF	breast:	n/a	n/a
44	CTCF	chr10:43239660-43239810	AoAF	blood vessel:	n/a	n/a
45	CTCF	chr10:43239700-43239850	GM12870	blood:	n/a	n/a
46	CTCF	chr10:43239680-43239830	BE2_C	brain:	n/a	n/a
47	CTCF	chr10:43239800-43239950	RPTEC	kidney:	n/a	n/a
48	CTCF	chr10:43239660-43239810	HMEC	breast:	n/a	n/a
49	CTCF	chr10:43238719-43238773	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr10:43239720-43239870	BE2_C	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:43228372..43230638-chr10:43276090..43278496,2	MCF-7	breast:

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

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

No data

Variant related genes	Relation type
DUXAP3	TF binding region
ENSG00000165733	chromatin interactions

Extended variants
information (count: 290 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:290 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3123750	chr10:43227824-43227825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs537594585	chr10:43227856-43227857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551183858	chr10:43227860-43227861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs144188740	chr10:43227870-43227871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2484307	chr10:43227920-43227921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs200255780	chr10:43227940-43227941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2795524	chr10:43227955-43227956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567945973	chr10:43227961-43227962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535282054	chr10:43227962-43227963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554002782	chr10:43227968-43227969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572252274	chr10:43227971-43227972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373699402	chr10:43227978-43227979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531288228	chr10:43228386-43228387	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs549429999	chr10:43228413-43228414	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs567833895	chr10:43228419-43228420	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs192684581	chr10:43228428-43228429	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs117711896	chr10:43228484-43228485	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs565957648	chr10:43228581-43228582	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs539398980	chr10:43228604-43228605	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs558164175	chr10:43228605-43228606	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs560424304	chr10:43228613-43228614	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs543855118	chr10:43228614-43228615	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs555869499	chr10:43228671-43228672	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs574184719	chr10:43228672-43228673	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs541603293	chr10:43228685-43228686	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs559743129	chr10:43228700-43228701	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs147806339	chr10:43228713-43228714	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs544255883	chr10:43228729-43228730	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs371116052	chr10:43228772-43228773	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs374511023	chr10:43228810-43228811	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs531177962	chr10:43228841-43228842	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs549367170	chr10:43228843-43228844	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs150986806	chr10:43228858-43228859	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs567772741	chr10:43228929-43228930	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs183748971	chr10:43228947-43228948	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs375284002	chr10:43228950-43228951	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs142417067	chr10:43229000-43229001	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs140806087	chr10:43229015-43229016	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs538785470	chr10:43229021-43229022	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs75519973	chr10:43229022-43229023	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs200702118	chr10:43229033-43229034	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs75975563	chr10:43229039-43229040	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs530440	chr10:43229054-43229055	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs551668764	chr10:43229113-43229114	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs569988553	chr10:43229150-43229151	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs537397475	chr10:43229246-43229247	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs555838477	chr10:43229357-43229358	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs562086961	chr10:43229427-43229428	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs534834724	chr10:43229494-43229495	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs376556814	chr10:43229572-43229573	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43227800-43228000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr10:43227800-43228000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:43230000-43230400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr10:43232600-43235200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr10:43233200-43235600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr10:43235200-43235400	Enhancers	Gastric	stomach
7	chr10:43241400-43241600	Enhancers	K562	blood
8	chr10:43241600-43242400	Active TSS	K562	blood

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