Variant report

Variant	nsv948265
Chromosome Location	chr10:38915711-38929195
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:38924500-38924650	Caco-2	colon:	n/a	n/a
2	CTCF	chr10:38924480-38924630	WERI-Rb-1	eye:	n/a	n/a
3	CTCF	chr10:38920246-38920330	Lung_OC	lung:	n/a	n/a
4	CTCF	chr10:38924678-38924814	GM13976	blood:	n/a	n/a
5	EP300	chr10:38924304-38924531	GM12878	blood:	n/a	n/a
6	JUND	chr10:38924281-38924443	HepG2	liver:	n/a	n/a
7	POLR2A	chr10:38923860-38924556	K562	blood:	n/a	n/a
8	POLR2A	chr10:38920431-38920669	K562	blood:	n/a	n/a
9	POLR2A	chr10:38922694-38922894	K562	blood:	n/a	n/a
10	POLR2A	chr10:38917749-38919330	K562	blood:	n/a	n/a
11	POLR2A	chr10:38916886-38917548	K562	blood:	n/a	n/a
12	POLR2A	chr10:38921344-38922475	K562	blood:	n/a	n/a
13	POU2F2	chr10:38919002-38919402	GM12878	blood:	n/a	n/a
14	SIX5	chr10:38919023-38919307	K562	blood:	n/a	n/a
15	SP1	chr10:38924263-38924563	HepG2	liver:	n/a	n/a
16	USF1	chr10:38928971-38929104	HepG2	liver:	n/a	chr10:38928988-38929004 chr10:38929043-38929054
17	USF1	chr10:38928445-38928564	HepG2	liver:	n/a	n/a
18	ZBTB33	chr10:38924337-38924599	HepG2	liver:	n/a	n/a
19	ZBTB33	chr10:38924248-38924531	K562	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:38928989-38929039	HCF	heart:	n/a
2	chr10:38928989-38929039	NHDF-neo	bronchial:	n/a
3	chr10:38928847-38928897	SK-N-MC	brain:	n/a
4	chr10:38928847-38928897	SK-N-SH_RA	brain:	n/a
5	chr10:38928847-38928897	A549	lung:	n/a
6	chr10:38928847-38928897	T-47D	breast:	n/a
7	chr10:38928847-38928897	HEEpiC	esophagus:	n/a
8	chr10:38928989-38929039	GM12892	blood:	n/a
9	chr10:38928847-38928897	CMK	blood:	n/a
10	chr10:38928989-38929039	GM12878	blood:	n/a
11	chr10:38928989-38929039	Hela-S3	cervix:	n/a
12	chr10:38928989-38929039	HIPEpiC	eye:	n/a
13	chr10:38928989-38929039	HRPEpiC	eye:	n/a
14	chr10:38928847-38928897	Hepatocyte	liver:	n/a
15	chr10:38928989-38929039	SK-N-MC	brain:	n/a
16	chr10:38928847-38928897	ovcar-3	ovarian:	n/a
17	chr10:38928847-38928897	AG09309	skin:	n/a
18	chr10:38928847-38928897	AoSMC	blood vessel:	n/a
19	chr10:38928847-38928897	MCF10A-Er-Src	breast:	n/a
20	chr10:38928989-38929039	MCF10A-Er-Src	breast:	n/a
21	chr10:38928989-38929039	HUVEC	blood vessel:	n/a
22	chr10:38928847-38928897	GM19239	blood:	n/a
23	chr10:38928989-38929039	CMK	blood:	n/a
24	chr10:38928847-38928897	HCM	heart:	n/a
25	chr10:38928989-38929039	IMR90	lung:	fetal
26	chr10:38928847-38928897	HepG2	liver:	n/a
27	chr10:38928847-38928897	AG04449	skin:	fetal
28	chr10:38928847-38928897	HUVEC	blood vessel:	n/a
29	chr10:38928989-38929039	LNCaP	prostate:	n/a
30	chr10:38928989-38929039	HRE	kidney:	n/a
31	chr10:38928847-38928897	H1-hESC	embryonic stem cell:	embryo
32	chr10:38928847-38928897	HIPEpiC	eye:	n/a
33	chr10:38928989-38929039	Caco-2	colon:	n/a
34	chr10:38928847-38928897	HL-60	blood:	n/a
35	chr10:38928847-38928897	BJ	skin:	n/a
36	chr10:38928989-38929039	AoSMC	blood vessel:	n/a
37	chr10:38928847-38928897	Jurkat	blood:	n/a
38	chr10:38928847-38928897	RPTEC	kidney:	n/a
39	chr10:38928847-38928897	HRE	kidney:	n/a
40	chr10:38928989-38929039	ovcar-3	ovarian:	n/a
41	chr10:38928989-38929039	HCT-116	colon:	n/a
42	chr10:38928989-38929039	SKMC	muscle:	n/a
43	chr10:38928847-38928897	Caco-2	colon:	n/a
44	chr10:38928847-38928897	PrEC	prostate:	n/a
45	chr10:38928989-38929039	AG09319	gingival:	n/a
46	chr10:38928847-38928897	LNCaP	prostate:	n/a
47	chr10:38928847-38928897	SK-N-SH	brain:	n/a
48	chr10:38928989-38929039	NHBE	bronchial:	n/a
49	chr10:38928847-38928897	HMEC	breast:	n/a
50	chr10:38928847-38928897	ECC-1	luminal epithelium:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF37A-16	chr10:38929039-38931213	NONHSAT012834

No data

Variant related genes	Relation type
PABPC1P12	TF binding region
PABPC1P12	CpG island

Extended variants
information (count: 100 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4070430	chr10:38924048-38924049	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs185762404	chr10:38924053-38924054	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs573288876	chr10:38924068-38924069	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs558414631	chr10:38924082-38924083	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs74137028	chr10:38924101-38924102	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs542244464	chr10:38924111-38924112	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs555838042	chr10:38924115-38924116	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs144853093	chr10:38924127-38924128	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs575773886	chr10:38924131-38924132	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs200271398	chr10:38924169-38924170	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs143917815	chr10:38924188-38924189	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs564525925	chr10:38924189-38924190	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs533647410	chr10:38924196-38924197	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs4070427	chr10:38924212-38924213	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs540585767	chr10:38924223-38924224	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs2310278	chr10:38924241-38924242	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs560875345	chr10:38924243-38924244	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs191014307	chr10:38924246-38924247	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs549443480	chr10:38924249-38924250	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs369557940	chr10:38924261-38924262	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs562959546	chr10:38924264-38924265	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs531849850	chr10:38924268-38924269	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs4070426	chr10:38924271-38924272	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs551527908	chr10:38924279-38924280	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs571369736	chr10:38924294-38924295	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs373004588	chr10:38924334-38924335	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs376223380	chr10:38924365-38924366	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs2310277	chr10:38924371-38924372	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs534030659	chr10:38924397-38924398	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs371916753	chr10:38924421-38924422	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs185617981	chr10:38924428-38924429	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs567269475	chr10:38924448-38924449	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs535835147	chr10:38924456-38924457	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs555750392	chr10:38924463-38924464	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs575685558	chr10:38924468-38924469	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs538376145	chr10:38924487-38924488	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs558294730	chr10:38924492-38924493	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs372558728	chr10:38924499-38924500	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs578098913	chr10:38924504-38924505	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs2310276	chr10:38924517-38924518	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs540849486	chr10:38924518-38924519	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs142656389	chr10:38924529-38924530	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs574424108	chr10:38924533-38924534	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs543000956	chr10:38924557-38924558	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs562871987	chr10:38924561-38924562	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs531808281	chr10:38924572-38924573	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs12265462	chr10:38924575-38924576	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs565409227	chr10:38924581-38924582	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs527494012	chr10:38924586-38924587	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs547611361	chr10:38924587-38924588	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:39)

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

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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