Variant report

Variant	nsv517042
Chromosome Location	chr10:43206700-43234246
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:45)
CpG islands
(count:183)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:45 , 50 per page) page: 1

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	BATF	chr10:43218973-43219261	GM12878	blood:	n/a	n/a
3	CEBPB	chr10:43230096-43230321	MCF-7	breast:	n/a	n/a
4	CEBPB	chr10:43230108-43230288	K562	blood:	n/a	n/a
5	CTCF	chr10:43207580-43207595	GM13976	blood:	n/a	n/a
6	CTCF	chr10:43227840-43227846	MCF-7	breast:	n/a	n/a
7	CTCF	chr10:43227758-43227967	GM19239	blood:	n/a	n/a
8	CTCF	chr10:43220104-43220263	K562	blood:	n/a	chr10:43220223-43220232
9	CTCF	chr10:43220211-43220224	LNCaP	prostate:	n/a	n/a
10	CTCF	chr10:43232000-43232019	GM13976	blood:	n/a	n/a
11	CTCF	chr10:43214038-43214096	GM13976	blood:	n/a	n/a
12	CTCF	chr10:43227852-43227855	MCF-7	breast:	n/a	n/a
13	CTCF	chr10:43227830-43227915	MCF-7	breast:	n/a	n/a
14	CTCF	chr10:43228363-43228436	GM13976	blood:	n/a	n/a
15	EBF1	chr10:43219979-43220154	GM12878	blood:	n/a	n/a
16	EGR1	chr10:43227921-43228119	K562	blood:	n/a	n/a
17	IRF1	chr10:43230156-43230253	K562	blood:	n/a	n/a
18	MAFF	chr10:43226642-43226792	HepG2	liver:	n/a	chr10:43226751-43226769
19	MAFF	chr10:43226675-43226891	K562	blood:	n/a	chr10:43226751-43226769
20	MAFK	chr10:43226610-43226877	HepG2	liver:	n/a	chr10:43226756-43226767 chr10:43226757-43226768 chr10:43226755-43226769
21	MYC	chr10:43227780-43227960	MCF-7	breast:	n/a	n/a
22	MYC	chr10:43227729-43228060	MCF-7	breast:	n/a	n/a
23	MYC	chr10:43227822-43227922	MCF-7	breast:	n/a	n/a
24	MYC	chr10:43219619-43219769	GM12878	blood:	n/a	n/a
25	POLR2A	chr10:43227730-43227743	A549	lung:	n/a	n/a
26	POLR2A	chr10:43227728-43228062	MCF-7	breast:	n/a	n/a
27	POLR2A	chr10:43224904-43225041	K562	blood:	n/a	n/a
28	POLR2A	chr10:43227745-43227920	A549	lung:	n/a	n/a
29	POLR2A	chr10:43227972-43227979	MCF-7	breast:	n/a	n/a
30	POLR2A	chr10:43208022-43215553	K562	blood:	n/a	n/a
31	POLR2A	chr10:43216772-43216875	ProgFib	skin:	n/a	n/a
32	POLR2A	chr10:43204944-43207579	K562	blood:	n/a	n/a
33	POLR2A	chr10:43221318-43224600	K562	blood:	n/a	n/a
34	POLR2A	chr10:43222045-43222161	Gliobla	brain:	n/a	n/a
35	POLR2A	chr10:43227744-43227927	Gliobla	brain:	n/a	n/a
36	POLR2A	chr10:43227822-43227967	MCF-7	breast:	n/a	n/a
37	POLR2A	chr10:43207483-43207539	A549	lung:	n/a	n/a
38	POLR2A	chr10:43220257-43220541	K562	blood:	n/a	n/a
39	POLR2A	chr10:43209686-43209744	Gliobla	brain:	n/a	n/a
40	POLR2A	chr10:43215822-43219946	K562	blood:	n/a	n/a
41	SUZ12	chr10:43227770-43228047	H1-hESC	embryonic stem cell:	n/a	n/a
42	TAL1	chr10:43234240-43234440	K562	blood:	n/a	n/a
43	TEAD4	chr10:43234162-43234461	K562	blood:	n/a	n/a
44	TEAD4	chr10:43234092-43234543	K562	blood:	n/a	n/a
45	ZNF263	chr10:43224512-43224725	HEK293-T-REx	kidney:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:43209934-43209984	PrEC	prostate:	n/a
2	chr10:43216927-43216977	HIPEpiC	eye:	n/a
3	chr10:43216927-43216977	GM19239	blood:	n/a
4	chr10:43209934-43209984	RPTEC	kidney:	n/a
5	chr10:43216927-43216977	NB4	blood:	n/a
6	chr10:43209934-43209984	NT2-D1	testis:	n/a
7	chr10:43215944-43215994	RPTEC	kidney:	n/a
8	chr10:43209934-43209984	LNCaP	prostate:	n/a
9	chr10:43215944-43215994	NB4	blood:	n/a
10	chr10:43209934-43209984	AG09309	skin:	n/a
11	chr10:43216927-43216977	HUVEC	blood vessel:	n/a
12	chr10:43209934-43209984	GM19239	blood:	n/a
13	chr10:43215944-43215994	Jurkat	blood:	n/a
14	chr10:43209934-43209984	AG10803	skin:	n/a
15	chr10:43215944-43215994	MCF10A-Er-Src	breast:	n/a
16	chr10:43209934-43209984	NHBE	bronchial:	n/a
17	chr10:43209934-43209984	Caco-2	colon:	n/a
18	chr10:43209934-43209984	HNPCEpiC	eye:	n/a
19	chr10:43215944-43215994	HEK293	kidney:	embryo
20	chr10:43215944-43215994	T-47D	breast:	n/a
21	chr10:43209934-43209984	AoSMC	blood vessel:	n/a
22	chr10:43216927-43216977	NHDF-neo	bronchial:	n/a
23	chr10:43209934-43209984	MCF-7	breast:	n/a
24	chr10:43216927-43216977	MCF10A-Er-Src	breast:	n/a
25	chr10:43209934-43209984	ProgFib	skin:	n/a
26	chr10:43209934-43209984	SK-N-SH	brain:	n/a
27	chr10:43209934-43209984	HMEC	breast:	n/a
28	chr10:43216927-43216977	Caco-2	colon:	n/a
29	chr10:43216927-43216977	GM06990	blood:	n/a
30	chr10:43216927-43216977	ECC-1	luminal epithelium:	n/a
31	chr10:43215944-43215994	HUVEC	blood vessel:	n/a
32	chr10:43209934-43209984	U87	brain:	n/a
33	chr10:43215944-43215994	U87	brain:	n/a
34	chr10:43215944-43215994	SAEC	small airway:	n/a
35	chr10:43209934-43209984	SAEC	small airway:	n/a
36	chr10:43209934-43209984	GM12878	blood:	n/a
37	chr10:43216927-43216977	T-47D	breast:	n/a
38	chr10:43216927-43216977	HAEpiC	amniotic membrane:	n/a
39	chr10:43215944-43215994	AG04450	lung:	fetal
40	chr10:43215944-43215994	GM12878	blood:	n/a
41	chr10:43216927-43216977	Hela-S3	cervix:	n/a
42	chr10:43216927-43216977	AG10803	skin:	n/a
43	chr10:43216927-43216977	RPTEC	kidney:	n/a
44	chr10:43209934-43209984	AG04450	lung:	fetal
45	chr10:43215944-43215994	SKMC	muscle:	n/a
46	chr10:43209934-43209984	NHDF-neo	bronchial:	n/a
47	chr10:43215944-43215994	HRCEpiC	kidney:	n/a
48	chr10:43215944-43215994	MCF-7	breast:	n/a
49	chr10:43215944-43215994	AG04449	skin:	fetal
50	chr10:43215944-43215994	GM19239	blood:	n/a

(count:2 , 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:
2	chr10:43203133..43206798-chr10:43276930..43278950,3	MCF-7	breast:

No data

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

Extended variants
information (count: 611 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10128322	chr10:43206700-43206701	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs144368629	chr10:43206720-43206721	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs545299047	chr10:43206737-43206738	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs148612922	chr10:43206747-43206748	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs530971098	chr10:43206785-43206786	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs112764730	chr10:43210074-43210075	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs182832049	chr10:43210077-43210078	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs576826357	chr10:43210079-43210080	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs7896645	chr10:43210085-43210086	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs187735496	chr10:43210092-43210093	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs145956292	chr10:43210098-43210099	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs192879410	chr10:43210154-43210155	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs560292118	chr10:43210163-43210164	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs374322788	chr10:43210207-43210208	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs34049608	chr10:43210220-43210221	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs149320003	chr10:43210239-43210240	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs552039312	chr10:43210267-43210268	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs139919736	chr10:43210289-43210290	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs546671085	chr10:43210399-43210400	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs570751757	chr10:43210423-43210424	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs114248688	chr10:43210505-43210506	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs568368605	chr10:43210575-43210576	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs535859463	chr10:43210595-43210596	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs539241238	chr10:43210599-43210600	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs74137932	chr10:43210608-43210609	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs529351151	chr10:43210638-43210639	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs539613791	chr10:43210643-43210644	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs34209305	chr10:43210644-43210645	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs184093991	chr10:43210666-43210667	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs151231614	chr10:43210687-43210688	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs139189280	chr10:43210691-43210692	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs556186192	chr10:43210705-43210706	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs115575094	chr10:43210722-43210723	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs569126927	chr10:43210731-43210732	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs560026593	chr10:43210739-43210740	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs572121007	chr10:43210744-43210745	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs545564181	chr10:43210746-43210747	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs563942386	chr10:43210748-43210749	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs2505891	chr10:43210751-43210752	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
40	rs549702131	chr10:43210759-43210760	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs149950913	chr10:43210765-43210766	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs147881567	chr10:43210786-43210787	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs188629948	chr10:43210791-43210792	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs150205885	chr10:43210793-43210794	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs574448338	chr10:43210818-43210819	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs35970240	chr10:43210828-43210829	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs547851917	chr10:43210854-43210855	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs12217946	chr10:43210870-43210871	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs12217310	chr10:43210881-43210882	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs533829954	chr10:43210882-43210883	Inactive region	TF binding 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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43212600-43213000	Enhancers	Spleen	Spleen
2	chr10:43212800-43213000	Enhancers	HepG2	liver
3	chr10:43213000-43215800	Weak transcription	Spleen	Spleen
4	chr10:43215800-43216200	ZNF genes & repeats	Spleen	Spleen
5	chr10:43217600-43218000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr10:43227800-43228000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr10:43227800-43228000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr10:43230000-43230400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr10:43232600-43235200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr10:43233200-43235600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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