Variant report

Variant	nsv8620
Chromosome Location	chr10:38978639-39037040
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:127)
CpG islands
(count:429)
Chromatin interactive
region (count:0)
LncRNA
region (count:32)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:127 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr10:39011913-39012229	GM12878	blood:	n/a	n/a
2	BATF	chr10:39026887-39027079	GM12878	blood:	n/a	n/a
3	BATF	chr10:39012008-39012251	GM12878	blood:	n/a	n/a
4	CTCF	chr10:39001837-39001861	Fibrobl	skin:	n/a	n/a
5	CTCF	chr10:39004554-39004583	GM13977	blood:	n/a	n/a
6	CTCF	chr10:39022260-39022342	GM13976	blood:	n/a	n/a
7	CTCF	chr10:38997465-38997555	LNCaP	prostate:	n/a	n/a
8	CTCF	chr10:38992453-38992488	GM10266	blood:	n/a	n/a
9	CTCF	chr10:39003073-39003149	GM13977	blood:	n/a	n/a
10	EBF1	chr10:39007953-39008125	GM12878	blood:	n/a	n/a
11	EP300	chr10:39022205-39022475	GM12878	blood:	n/a	n/a
12	EP300	chr10:39011094-39011413	GM12878	blood:	n/a	chr10:39011317-39011331
13	EP300	chr10:39016635-39016982	GM12878	blood:	n/a	n/a
14	FOSL2	chr10:39022052-39022486	HepG2	liver:	n/a	n/a
15	FOSL2	chr10:39022104-39022588	HepG2	liver:	n/a	n/a
16	FOSL2	chr10:39025556-39025786	HepG2	liver:	n/a	n/a
17	FOXA1	chr10:39021989-39022591	HepG2	liver:	n/a	n/a
18	FOXA2	chr10:39022174-39022450	A549	lung:	n/a	n/a
19	GABPA	chr10:39035409-39035605	Hela-S3	cervix:	n/a	n/a
20	GABPA	chr10:39035470-39035614	Hela-S3	cervix:	n/a	n/a
21	HEY1	chr10:39022237-39022561	K562	blood:	n/a	n/a
22	HEY1	chr10:39022208-39022491	HepG2	liver:	n/a	n/a
23	IRF4	chr10:39021946-39022594	GM12878	blood:	n/a	n/a
24	IRF4	chr10:39022165-39022502	GM12878	blood:	n/a	n/a
25	JUND	chr10:39022195-39022402	HepG2	liver:	n/a	n/a
26	JUND	chr10:39014313-39014546	HepG2	liver:	n/a	n/a
27	JUND	chr10:39011851-39012027	HepG2	liver:	n/a	n/a
28	JUND	chr10:39022150-39022530	HepG2	liver:	n/a	n/a
29	MYC	chr10:39033272-39033386	H1-hESC	embryonic stem cell:	n/a	n/a
30	PAX5	chr10:39022123-39022463	GM12878	blood:	n/a	n/a
31	PAX5	chr10:39024156-39024528	GM12878	blood:	n/a	n/a
32	PAX5	chr10:39022252-39022531	GM12878	blood:	n/a	n/a
33	PAX5	chr10:39007401-39007595	GM12878	blood:	n/a	n/a
34	PAX5	chr10:39006683-39006983	GM12878	blood:	n/a	chr10:39006839-39006857
35	PAX5	chr10:39016482-39016643	GM12878	blood:	n/a	n/a
36	PAX5	chr10:39016360-39016803	GM12878	blood:	n/a	n/a
37	PAX5	chr10:39006626-39007183	GM12878	blood:	n/a	chr10:39006839-39006857
38	PBX3	chr10:39007946-39008070	GM12878	blood:	n/a	n/a
39	POLR2A	chr10:39030999-39031250	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr10:38983095-38983108	ProgFib	skin:	n/a	n/a
41	POLR2A	chr10:39021546-39021642	Gliobla	brain:	n/a	n/a
42	POLR2A	chr10:39022263-39022490	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr10:39009361-39009393	Gliobla	brain:	n/a	n/a
44	POU2F2	chr10:38992790-38993109	GM12878	blood:	n/a	n/a
45	POU2F2	chr10:39022110-39022712	GM12878	blood:	n/a	n/a
46	POU2F2	chr10:39024518-39024922	GM12878	blood:	n/a	n/a
47	POU2F2	chr10:39025458-39025783	GM12878	blood:	n/a	n/a
48	POU2F2	chr10:39026782-39027149	GM12878	blood:	n/a	n/a
49	POU2F2	chr10:39007496-39007875	GM12878	blood:	n/a	n/a
50	REST	chr10:39030882-39031085	PANC-1	pancreas:	n/a	n/a

(count:429 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:39023768-39023818	HepG2	liver:	n/a
2	chr10:39023095-39023145	AG09309	skin:	n/a
3	chr10:39023768-39023818	HepG2	liver:	n/a
4	chr10:39023095-39023145	AG09309	skin:	n/a
5	chr10:39023095-39023145	Jurkat	blood:	n/a
6	chr10:39023045-39023095	SAEC	small airway:	n/a
7	chr10:39023768-39023818	HCF	heart:	n/a
8	chr10:39020983-39021033	MCF-7	breast:	n/a
9	chr10:39023095-39023145	HNPCEpiC	eye:	n/a
10	chr10:39023676-39023726	AG04450	lung:	fetal
11	chr10:39024195-39024245	PrEC	prostate:	n/a
12	chr10:39024087-39024137	HUVEC	blood vessel:	n/a
13	chr10:39020983-39021033	GM06990	blood:	n/a
14	chr10:39023045-39023095	SKMC	muscle:	n/a
15	chr10:39023768-39023818	NH-A	brain:	n/a
16	chr10:39023676-39023726	GM12878	blood:	n/a
17	chr10:39023045-39023095	HEK293	kidney:	embryo
18	chr10:39020983-39021033	H1-hESC	embryonic stem cell:	embryo
19	chr10:39024195-39024245	BJ	skin:	n/a
20	chr10:39023768-39023818	Jurkat	blood:	n/a
21	chr10:39023768-39023818	SKMC	muscle:	n/a
22	chr10:39024195-39024245	IMR90	lung:	fetal
23	chr10:39024195-39024245	GM06990	blood:	n/a
24	chr10:39024087-39024137	ProgFib	skin:	n/a
25	chr10:39024195-39024245	HCT-116	colon:	n/a
26	chr10:39020983-39021033	AG09319	gingival:	n/a
27	chr10:39023095-39023145	BJ	skin:	n/a
28	chr10:39023095-39023145	NH-A	brain:	n/a
29	chr10:39023045-39023095	MCF-7	breast:	n/a
30	chr10:39023676-39023726	Caco-2	colon:	n/a
31	chr10:39023045-39023095	ECC-1	luminal epithelium:	n/a
32	chr10:39020983-39021033	AG04450	lung:	fetal
33	chr10:39023676-39023726	NHBE	bronchial:	n/a
34	chr10:39020983-39021033	HUVEC	blood vessel:	n/a
35	chr10:39023768-39023818	ECC-1	luminal epithelium:	n/a
36	chr10:39023768-39023818	U87	brain:	n/a
37	chr10:39023768-39023818	BE2_C	brain:	n/a
38	chr10:39024195-39024245	ovcar-3	ovarian:	n/a
39	chr10:39023045-39023095	GM12878	blood:	n/a
40	chr10:39023045-39023095	LNCaP	prostate:	n/a
41	chr10:39020983-39021033	PFSK-1	brain:	n/a
42	chr10:39023045-39023095	NHDF-neo	bronchial:	n/a
43	chr10:39023045-39023095	H1-hESC	embryonic stem cell:	embryo
44	chr10:39020983-39021033	HRPEpiC	eye:	n/a
45	chr10:39023045-39023095	HIPEpiC	eye:	n/a
46	chr10:39024087-39024137	NB4	blood:	n/a
47	chr10:39024195-39024245	AG09319	gingival:	n/a
48	chr10:39023095-39023145	SKMC	muscle:	n/a
49	chr10:39024087-39024137	ovcar-3	ovarian:	n/a
50	chr10:39023045-39023095	HCPEpiC	choroid plexus:	n/a

No data

(count:32 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SEPT7L-2	chr10:38979450-38979558	NONHSAT012836
2	lnc-SEPT7L-2	chr10:38982029-38982199	NONHSAT012835
3	lnc-SEPT7L-2	chr10:38979394-38979536	ENSG00000233867
4	lnc-SEPT7L-2	chr10:39017958-39018085	NONHSAT012836
5	lnc-ZNF37A-5	chr10:39006326-39006412	NONHSAT012839
6	lnc-SEPT7L-2	chr10:38983372-38983521	NONHSAT012836
7	lnc-ZNF37A-5	chr10:39011180-39011260	ENSG00000234541
8	lnc-SEPT7L-2	chr10:38979450-38979558	NONHSAT012838
9	lnc-ZNF37A-5	chr10:39011180-39011260	NONHSAT012839
10	lnc-SEPT7L-2	chr10:39017958-39018085	NONHSAT012838
11	lnc-SEPT7L-2	chr10:38979394-38979536	NONHSAT012835
12	lnc-SEPT7L-2	chr10:38979394-38979536	ENSG00000233867
13	lnc-ZNF37A-5	chr10:39012283-39012360	NONHSAT012839
14	lnc-SEPT7L-2	chr10:38983372-38983415	NONHSAT012837
15	lnc-SEPT7L-2	chr10:39022035-39022206	NONHSAT012838
16	lnc-ZNF37A-5	chr10:39010984-39011260	ENSG00000234541
17	lnc-ZNF37A-5	chr10:39012283-39012607	ENSG00000234541
18	lnc-SEPT7L-2	chr10:39005042-39005216	NONHSAT012836
19	lnc-ZNF37A-5	chr10:39012283-39012507	ENSG00000234541
20	lnc-SEPT7L-2	chr10:38982029-38982200	ENSG00000233867
21	lnc-SEPT7L-2	chr10:39019400-39019542	NONHSAT012838
22	lnc-ZNF37A-5	chr10:39006326-39006412	ENSG00000234541
23	lnc-SEPT7L-2	chr10:38984942-38985062	NONHSAT012838
24	lnc-ZNF37A-17	chr10:38989727-38991371	NR_045000
25	lnc-SEPT7L-2	chr10:39005042-39005216	NONHSAT012838
26	lnc-SEPT7L-2	chr10:38984365-38984470	NONHSAT012838
27	lnc-SEPT7L-2	chr10:39022035-39022206	NONHSAT012836
28	lnc-SEPT7L-2	chr10:38982029-38982200	ENSG00000233867
29	lnc-SEPT7L-2	chr10:38983372-38983521	NONHSAT012838
30	lnc-SEPT7L-2	chr10:39019400-39019542	NONHSAT012836
31	lnc-SEPT7L-2	chr10:38979450-38979558	NONHSAT012837
32	lnc-SEPT7L-2	chr10:38984365-38984470	NONHSAT012836

No data

Variant related genes	Relation type
CHEK2P5	TF binding region
ACTR3BP5	TF binding region
SLC9B1P3	TF binding region
CHEK2P5	CpG island
ACTR3BP5	CpG island
SLC9B1P3	CpG island

Extended variants
information (count: 982 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:982 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542991203	chr10:38979425-38979426	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs563108704	chr10:38979436-38979437	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs374883898	chr10:38979438-38979439	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs532146873	chr10:38979446-38979447	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs202174017	chr10:38979458-38979459	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs559399831	chr10:38979461-38979462	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs527881754	chr10:38979467-38979468	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs548048249	chr10:38979477-38979478	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs199700669	chr10:38979486-38979487	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs112674230	chr10:38979491-38979492	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs567940485	chr10:38979492-38979493	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs200197264	chr10:38979520-38979521	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs370872585	chr10:38979530-38979531	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs117273521	chr10:38982049-38982050	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs117470571	chr10:38982059-38982060	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs562514234	chr10:38982077-38982078	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs576196560	chr10:38982086-38982087	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs576729672	chr10:38982101-38982102	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs564886213	chr10:38982103-38982104	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs373828272	chr10:38982122-38982123	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs145407156	chr10:38982130-38982131	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs71500448	chr10:38982155-38982156	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs187530201	chr10:38982163-38982164	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs200282176	chr10:38982174-38982175	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs190791098	chr10:38982185-38982186	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs200954074	chr10:38982189-38982190	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs183311414	chr10:38982197-38982198	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs61842178	chr10:38983103-38983104	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs548108641	chr10:38983107-38983108	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs4070209	chr10:38983383-38983384	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs184148320	chr10:38983387-38983388	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs4070208	chr10:38983392-38983393	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs556885298	chr10:38983407-38983408	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs4070207	chr10:38983408-38983409	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs531018128	chr10:38983425-38983426	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs201609524	chr10:38983438-38983439	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs150171336	chr10:38983453-38983454	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs545872530	chr10:38983478-38983479	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs35537110	chr10:38983490-38983491	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs559538449	chr10:38983498-38983499	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs527881656	chr10:38983500-38983501	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs541682451	chr10:38983506-38983507	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs561403698	chr10:38983515-38983516	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs530392186	chr10:38983519-38983520	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs183101518	chr10:38984387-38984388	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs573185297	chr10:38984411-38984412	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs4114807	chr10:38984414-38984415	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs187739835	chr10:38984416-38984417	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs4114806	chr10:38984417-38984418	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs550918074	chr10:38984419-38984420	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:40)

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
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:39023200-39024000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:39029800-39031600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr10:39029800-39033800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:39034400-39035800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr10:39034400-39036000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr10:39034600-39036000	ZNF genes & repeats	Pancreas	Pancrea

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