Variant report

Variant	nsv550542
Chromosome Location	chr10:38890240-38973500
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:227)
CpG islands
(count:488)
Chromatin interactive
region (count:1)
LncRNA
region (count:23)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:227 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr10:38946073-38946410	GM12878	blood:	n/a	n/a
2	BATF	chr10:38930093-38930312	GM12878	blood:	n/a	n/a
3	BHLHE40	chr10:38938229-38938487	HepG2	liver:	n/a	n/a
4	CEBPB	chr10:38946193-38946403	K562	blood:	n/a	chr10:38946304-38946321 chr10:38946305-38946318
5	CEBPB	chr10:38946139-38946456	K562	blood:	n/a	chr10:38946304-38946321 chr10:38946305-38946318
6	CTCF	chr10:38898520-38898670	HepG2	liver:	n/a	n/a
7	CTCF	chr10:38903742-38903810	LNCaP	prostate:	n/a	n/a
8	CTCF	chr10:38898514-38898649	HepG2	liver:	n/a	n/a
9	CTCF	chr10:38946146-38946209	MCF-7	breast:	n/a	n/a
10	CTCF	chr10:38946136-38946301	LNCaP	prostate:	n/a	chr10:38946233-38946241
11	CTCF	chr10:38903375-38903489	GM20000	blood:	n/a	n/a
12	CTCF	chr10:38946128-38946261	Gliobla	brain:	n/a	chr10:38946233-38946241
13	CTCF	chr10:38904047-38904064	LNCaP	prostate:	n/a	n/a
14	CTCF	chr10:38946178-38946193	ProgFib	skin:	n/a	n/a
15	CTCF	chr10:38946137-38946246	MCF-7	breast:	n/a	chr10:38946233-38946241
16	CTCF	chr10:38946034-38946418	K562	blood:	n/a	chr10:38946233-38946241
17	CTCF	chr10:38898500-38898650	RPTEC	kidney:	n/a	n/a
18	CTCF	chr10:38906342-38906364	GM13976	blood:	n/a	n/a
19	CTCF	chr10:38946160-38946310	MCF-7	breast:	n/a	chr10:38946233-38946241
20	CTCF	chr10:38946132-38946353	A549	lung:	n/a	chr10:38946233-38946241
21	CTCF	chr10:38952008-38952023	LNCaP	prostate:	n/a	n/a
22	CTCF	chr10:38945993-38946477	A549	lung:	n/a	chr10:38946233-38946241
23	CTCF	chr10:38898575-38898620	MCF-7	breast:	n/a	n/a
24	CTCF	chr10:38903075-38903185	GM13976	blood:	n/a	n/a
25	CTCF	chr10:38944380-38944530	Caco-2	colon:	n/a	n/a
26	CTCF	chr10:38946132-38946354	GM10248	blood:	n/a	chr10:38946233-38946241
27	CTCF	chr10:38894802-38894960	Lung_OC	lung:	n/a	n/a
28	CTCF	chr10:38946129-38946248	A549	lung:	n/a	chr10:38946233-38946241
29	CTCF	chr10:38946127-38946352	LNCaP	prostate:	n/a	chr10:38946233-38946241
30	CTCF	chr10:38946117-38946410	A549	lung:	n/a	chr10:38946233-38946241
31	CTCF	chr10:38898520-38898670	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr10:38898480-38898630	GM12868	blood:	n/a	n/a
33	CTCF	chr10:38898421-38898667	K562	blood:	n/a	n/a
34	CTCF	chr10:38954943-38955030	LNCaP	prostate:	n/a	n/a
35	CTCF	chr10:38903625-38903651	GM10266	blood:	n/a	n/a
36	CTCF	chr10:38924480-38924630	WERI-Rb-1	eye:	n/a	n/a
37	CTCF	chr10:38946127-38946268	MCF-7	breast:	n/a	chr10:38946233-38946241
38	CTCF	chr10:38898500-38898650	WERI-Rb-1	eye:	n/a	n/a
39	CTCF	chr10:38895718-38895775	Kidney_OC	kidney:	n/a	n/a
40	CTCF	chr10:38946147-38946209	Kidney_OC	kidney:	n/a	n/a
41	CTCF	chr10:38902619-38902673	GM13976	blood:	n/a	n/a
42	CTCF	chr10:38904070-38904147	LNCaP	prostate:	n/a	n/a
43	CTCF	chr10:38898560-38898710	A549	lung:	n/a	n/a
44	CTCF	chr10:38898480-38898630	HEK293	kidney:	n/a	n/a
45	CTCF	chr10:38945998-38946459	K562	blood:	n/a	chr10:38946233-38946241
46	CTCF	chr10:38898500-38898650	GM12875	blood:	n/a	n/a
47	CTCF	chr10:38946038-38946451	K562	blood:	n/a	chr10:38946233-38946241
48	CTCF	chr10:38924500-38924650	Caco-2	colon:	n/a	n/a
49	CTCF	chr10:38900883-38900962	GM10248	blood:	n/a	n/a
50	CTCF	chr10:38894847-38894890	Medullo	brain:	n/a	n/a

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:38928989-38929039	RPTEC	kidney:	n/a
2	chr10:38928847-38928897	AoSMC	blood vessel:	n/a
3	chr10:38891288-38891338	HCF	heart:	n/a
4	chr10:38928989-38929039	HAEpiC	amniotic membrane:	n/a
5	chr10:38895771-38895821	HCM	heart:	n/a
6	chr10:38891288-38891338	Hela-S3	cervix:	n/a
7	chr10:38928847-38928897	PFSK-1	brain:	n/a
8	chr10:38893821-38893871	HMEC	breast:	n/a
9	chr10:38908948-38908998	HPAEpiC	pulmonary alveolar:	n/a
10	chr10:38894299-38894349	MCF10A-Er-Src	breast:	n/a
11	chr10:38894299-38894349	AG04449	skin:	fetal
12	chr10:38928989-38929039	NHBE	bronchial:	n/a
13	chr10:38895771-38895821	T-47D	breast:	n/a
14	chr10:38897218-38897268	HRE	kidney:	n/a
15	chr10:38893821-38893871	HEEpiC	esophagus:	n/a
16	chr10:38893821-38893871	MCF10A-Er-Src	breast:	n/a
17	chr10:38908948-38908998	BJ	skin:	n/a
18	chr10:38928989-38929039	K562	blood:	n/a
19	chr10:38893821-38893871	SK-N-SH	brain:	n/a
20	chr10:38928989-38929039	HRPEpiC	eye:	n/a
21	chr10:38895771-38895821	IMR90	lung:	fetal
22	chr10:38894299-38894349	LNCaP	prostate:	n/a
23	chr10:38928989-38929039	MCF-7	breast:	n/a
24	chr10:38897218-38897268	PANC-1	pancreas:	n/a
25	chr10:38893821-38893871	BE2_C	brain:	n/a
26	chr10:38928847-38928897	U87	brain:	n/a
27	chr10:38893821-38893871	IMR90	lung:	fetal
28	chr10:38928847-38928897	HCF	heart:	n/a
29	chr10:38908948-38908998	RPTEC	kidney:	n/a
30	chr10:38893821-38893871	ProgFib	skin:	n/a
31	chr10:38893821-38893871	GM12891	blood:	n/a
32	chr10:38928989-38929039	SK-N-SH_RA	brain:	n/a
33	chr10:38928989-38929039	Hepatocyte	liver:	n/a
34	chr10:38897218-38897268	U87	brain:	n/a
35	chr10:38893821-38893871	BJ	skin:	n/a
36	chr10:38893821-38893871	Hela-S3	cervix:	n/a
37	chr10:38895771-38895821	AG04450	lung:	fetal
38	chr10:38894299-38894349	GM06990	blood:	n/a
39	chr10:38928847-38928897	AG09309	skin:	n/a
40	chr10:38928989-38929039	AG09319	gingival:	n/a
41	chr10:38928847-38928897	HIPEpiC	eye:	n/a
42	chr10:38928989-38929039	NHDF-neo	bronchial:	n/a
43	chr10:38891288-38891338	ovcar-3	ovarian:	n/a
44	chr10:38908948-38908998	HRE	kidney:	n/a
45	chr10:38928989-38929039	HCPEpiC	choroid plexus:	n/a
46	chr10:38891288-38891338	HEEpiC	esophagus:	n/a
47	chr10:38891288-38891338	BE2_C	brain:	n/a
48	chr10:38894299-38894349	PrEC	prostate:	n/a
49	chr10:38895771-38895821	NT2-D1	testis:	n/a
50	chr10:38928847-38928897	H1-hESC	embryonic stem cell:	embryo

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:38965666..38966167-chr6:29670107..29670640,2	MCF-7	breast:

(count:23 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SEPT7L-2	chr10:38943366-38943409	ENSG00000233867
2	lnc-SEPT7L-2	chr10:38943366-38943515	NONHSAT012835
3	lnc-SEPT7L-2	chr10:38933913-38934317	ENSG00000233867
4	lnc-SEPT7L-2	chr10:38944359-38944464	ENSG00000233867
5	lnc-SEPT7L-2	chr10:38944359-38944464	NONHSAT012835
6	lnc-SEPT7L-2	chr10:38938424-38938559	ENSG00000233867
7	lnc-SEPT7L-2	chr10:38939444-38939552	NONHSAT012835
8	lnc-SEPT7L-2	chr10:38965036-38965210	ENSG00000233867
9	lnc-SEPT7L-2	chr10:38943366-38943515	ENSG00000233867
10	lnc-SEPT7L-2	chr10:38943366-38943515	ENSG00000233867
11	lnc-SEPT7L-2	chr10:38939444-38939552	ENSG00000233867
12	lnc-SEPT7L-2	chr10:38934102-38934317	NONHSAT012835
13	lnc-SEPT7L-2	chr10:38944359-38944464	ENSG00000233867
14	lnc-SEPT7L-2	chr10:38937626-38937724	ENSG00000233867
15	lnc-SEPT7L-2	chr10:38944936-38945056	ENSG00000233867
16	lnc-SEPT7L-2	chr10:38965036-38965210	NONHSAT012835
17	lnc-SEPT7L-2	chr10:38965036-38965210	ENSG00000233867
18	lnc-SEPT7L-2	chr10:38938424-38938559	ENSG00000233867
19	lnc-SEPT7L-2	chr10:38938424-38938559	NONHSAT012835
20	lnc-ZNF37A-16	chr10:38929039-38931213	NONHSAT012834
21	lnc-SEPT7L-2	chr10:38939444-38939552	ENSG00000233867
22	lnc-SEPT7L-2	chr10:38939444-38939552	ENSG00000233867
23	lnc-SEPT7L-2	chr10:38934082-38934317	ENSG00000233867

No data

Variant related genes	Relation type
PABPC1P12	TF binding region
ABCD1P2	TF binding region
PABPC1P12	CpG island
ABCD1P2	CpG island

Extended variants
information (count: 866 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:866 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7917928	chr10:38890240-38890241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12161668	chr10:38890243-38890244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs61841282	chr10:38890248-38890249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553746114	chr10:38890249-38890250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573261386	chr10:38890263-38890264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542226796	chr10:38890264-38890265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs61841283	chr10:38890266-38890267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562003941	chr10:38890287-38890288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs61841284	chr10:38890289-38890290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113931375	chr10:38890314-38890315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200961332	chr10:38890322-38890323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370993200	chr10:38890331-38890332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575701116	chr10:38890338-38890339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544028436	chr10:38890341-38890342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs61841285	chr10:38890352-38890353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs61841286	chr10:38890376-38890377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377702838	chr10:38890382-38890383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563934522	chr10:38890409-38890410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374789581	chr10:38890435-38890436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370265978	chr10:38890450-38890451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs367923823	chr10:38890463-38890464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78631070	chr10:38890468-38890469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201319516	chr10:38890484-38890485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145641501	chr10:38890496-38890497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189370796	chr10:38890530-38890531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200460897	chr10:38890534-38890535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7918343	chr10:38890571-38890572	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs375031884	chr10:38890593-38890594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562676846	chr10:38891288-38891289	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
30	rs200022761	chr10:38891289-38891290	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
31	rs200688624	chr10:38891291-38891292	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
32	rs373537363	chr10:38891318-38891319	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
33	rs148274297	chr10:38891325-38891326	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
34	rs71529018	chr10:38891966-38891967	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs9731335	chr10:38891997-38891998	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs75286735	chr10:38892001-38892002	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs551697842	chr10:38892014-38892015	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs200642367	chr10:38892016-38892017	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs201581996	chr10:38892018-38892019	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs374806692	chr10:38892019-38892020	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs200042652	chr10:38892026-38892027	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs571302665	chr10:38892029-38892030	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs75028033	chr10:38892037-38892038	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs200037521	chr10:38892046-38892047	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs367827474	chr10:38892049-38892050	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs372050749	chr10:38892055-38892056	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs61841288	chr10:38892060-38892061	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs370357518	chr10:38892066-38892067	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs373564109	chr10:38892067-38892068	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs111247320	chr10:38892069-38892070	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:41)

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
Medulloblastoma	21163964	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:38888800-38890600	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr10:38893600-38894000	Bivalent Enhancer	Placenta	Placenta
3	chr10:38893600-38894200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
4	chr10:38893600-38896200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr10:38893800-38894200	Active TSS	Right Ventricle	heart
6	chr10:38896800-38898800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
7	chr10:38897800-38899000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr10:38968800-38969000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived

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