Variant report

Variant	nsv1037115
Chromosome Location	chr10:39063943-39074038
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr10:39066194-39066341	GM12878	blood:	n/a	n/a
2	BATF	chr10:39069131-39069332	GM12878	blood:	n/a	n/a
3	BCL11A	chr10:39066112-39066389	GM12878	blood:	n/a	n/a
4	BCL11A	chr10:39071173-39071414	GM12878	blood:	n/a	n/a
5	BCL11A	chr10:39070088-39070283	GM12878	blood:	n/a	n/a
6	BCL11A	chr10:39066172-39066370	GM12878	blood:	n/a	n/a
7	BHLHE40	chr10:39067039-39067285	HepG2	liver:	n/a	n/a
8	CTCF	chr10:39070720-39070870	GM12873	blood:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
9	CTCF	chr10:39070694-39070843	K562	blood:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
10	CTCF	chr10:39070700-39070850	AG09319	gingival:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
11	CTCF	chr10:39070727-39070893	HUVEC	blood vessel:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
12	CTCF	chr10:39070749-39070883	K562	blood:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
13	CTCF	chr10:39070760-39070910	NHDF-neo	bronchial:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
14	CTCF	chr10:39070567-39071010	A549	lung:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
15	CTCF	chr10:39070700-39070850	HPAF	blood vessel:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
16	CTCF	chr10:39070760-39070910	BJ	skin:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
17	CTCF	chr10:39070806-39070856	Spleen_OC	spleen:	n/a	n/a
18	CTCF	chr10:39070623-39070912	A549	lung:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
19	CTCF	chr10:39070720-39070870	HPAF	blood vessel:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
20	CTCF	chr10:39070760-39070910	AG09319	gingival:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
21	CTCF	chr10:39070618-39070992	A549	lung:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
22	CTCF	chr10:39070696-39070929	K562	blood:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
23	CTCF	chr10:39070790-39070889	Hela-S3	cervix:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
24	CTCF	chr10:39070740-39070890	HVMF	connective:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
25	CTCF	chr10:39070578-39071034	A549	lung:	n/a	chr10:39070805-39070823 chr10:39070800-39070821
26	EBF1	chr10:39068951-39069315	GM12878	blood:	n/a	n/a
27	EP300	chr10:39066449-39066774	GM12878	blood:	n/a	n/a
28	EP300	chr10:39066134-39066409	GM12878	blood:	n/a	chr10:39066164-39066174
29	EP300	chr10:39068908-39069294	GM12878	blood:	n/a	n/a
30	EP300	chr10:39071168-39071389	GM12878	blood:	n/a	n/a
31	FOSL2	chr10:39067018-39067312	HepG2	liver:	n/a	n/a
32	FOSL2	chr10:39066146-39066364	HepG2	liver:	n/a	n/a
33	FOSL2	chr10:39066900-39067381	HepG2	liver:	n/a	n/a
34	FOSL2	chr10:39071213-39071522	HepG2	liver:	n/a	n/a
35	FOXA1	chr10:39070571-39071031	HepG2	liver:	n/a	n/a
36	FOXA1	chr10:39066838-39067565	HepG2	liver:	n/a	n/a
37	FOXA1	chr10:39072992-39073637	HepG2	liver:	n/a	n/a
38	FOXA1	chr10:39071119-39071396	HepG2	liver:	n/a	n/a
39	GABPA	chr10:39071208-39071351	Hela-S3	cervix:	n/a	n/a
40	GABPA	chr10:39066101-39066392	Hela-S3	cervix:	n/a	n/a
41	GABPA	chr10:39066204-39066331	Hela-S3	cervix:	n/a	n/a
42	IRF4	chr10:39070623-39070907	GM12878	blood:	n/a	n/a
43	IRF4	chr10:39072873-39073505	GM12878	blood:	n/a	n/a
44	JUND	chr10:39070123-39070324	HepG2	liver:	n/a	n/a
45	JUND	chr10:39066159-39066362	HepG2	liver:	n/a	n/a
46	JUND	chr10:39066174-39066324	HepG2	liver:	n/a	n/a
47	JUND	chr10:39067042-39067302	HepG2	liver:	n/a	n/a
48	JUND	chr10:39069134-39069243	HepG2	liver:	n/a	n/a
49	PAX5	chr10:39072885-39073254	GM12878	blood:	n/a	n/a
50	PAX5	chr10:39066445-39066683	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000233832	TF binding region

Extended variants
information (count: 117 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529046395	chr10:39071149-39071150	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs201371555	chr10:39071169-39071170	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs201783893	chr10:39071174-39071175	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs190756648	chr10:39071175-39071176	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs548406659	chr10:39071180-39071181	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs549208761	chr10:39071207-39071208	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs562545656	chr10:39071226-39071227	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs531594549	chr10:39071248-39071249	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs200060620	chr10:39071249-39071250	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs551408762	chr10:39071254-39071255	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs3901028	chr10:39071260-39071261	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs533804040	chr10:39071261-39071262	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs11146715	chr10:39071291-39071292	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs567414315	chr10:39071295-39071296	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs535966017	chr10:39071298-39071299	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs555886609	chr10:39071310-39071311	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs200992741	chr10:39071314-39071315	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs201674439	chr10:39071316-39071317	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs200250003	chr10:39071326-39071327	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs34361966	chr10:39071330-39071331	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs184180376	chr10:39071338-39071339	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs372408399	chr10:39071343-39071344	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs577601614	chr10:39071344-39071345	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs370062177	chr10:39071354-39071355	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs540272264	chr10:39071382-39071383	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs531010782	chr10:39071384-39071385	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs573613193	chr10:39071398-39071399	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs187485362	chr10:39071400-39071401	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs573751299	chr10:39071411-39071412	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs3870407	chr10:39071414-39071415	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs562669524	chr10:39071420-39071421	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs192758178	chr10:39071422-39071423	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs531433786	chr10:39071426-39071427	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs570697742	chr10:39071440-39071441	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs551636422	chr10:39071456-39071457	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs539775661	chr10:39071460-39071461	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs117548259	chr10:39071466-39071467	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs199751729	chr10:39071468-39071469	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs527274120	chr10:39071481-39071482	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs184587907	chr10:39071494-39071495	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs567277895	chr10:39071503-39071504	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs566362423	chr10:39071521-39071522	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs536308294	chr10:39071530-39071531	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs549629167	chr10:39071544-39071545	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs569414473	chr10:39071555-39071556	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs188642366	chr10:39071586-39071587	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs371411135	chr10:39072893-39072894	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs554428951	chr10:39072915-39072916	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs139907458	chr10:39072933-39072934	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs536918990	chr10:39072939-39072940	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:

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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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