Variant report

Variant	nsv831881
Chromosome Location	chr10:57504989-57696340
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:222)
CpG islands
(count:122)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:222 , 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	ATF1	chr10:57507840-57507889	K562	blood:	n/a	n/a
2	BACH1	chr10:57696199-57696273	H1-hESC	embryonic stem cell:	n/a	n/a
3	BATF	chr10:57518775-57519069	GM12878	blood:	n/a	chr10:57518959-57518970
4	BATF	chr10:57518771-57519015	GM12878	blood:	n/a	chr10:57518959-57518970
5	BCL11A	chr10:57518766-57519117	GM12878	blood:	n/a	n/a
6	CEBPB	chr10:57552815-57553184	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr10:57560874-57561053	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr10:57635106-57635391	HepG2	liver:	n/a	chr10:57635230-57635241
9	CEBPB	chr10:57552760-57553149	A549	lung:	n/a	n/a
10	CEBPB	chr10:57512468-57512713	K562	blood:	n/a	n/a
11	CEBPB	chr10:57512602-57512721	A549	lung:	n/a	n/a
12	CEBPB	chr10:57506975-57507448	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr10:57635063-57635361	A549	lung:	n/a	chr10:57635230-57635241
14	CEBPB	chr10:57637025-57637307	HepG2	liver:	n/a	n/a
15	CEBPB	chr10:57507027-57507291	HepG2	liver:	n/a	n/a
16	CTCF	chr10:57529630-57529675	GM13977	blood:	n/a	n/a
17	CTCF	chr10:57685820-57685970	Caco-2	colon:	n/a	n/a
18	CTCF	chr10:57569703-57569739	Lung_OC	lung:	n/a	n/a
19	CTCF	chr10:57659539-57659559	MCF-7	breast:	n/a	n/a
20	CTCF	chr10:57601180-57601330	HPF	lung:	n/a	n/a
21	CTCF	chr10:57567649-57567714	GM10248	blood:	n/a	n/a
22	CTCF	chr10:57581601-57581645	GM20000	blood:	n/a	n/a
23	CTCF	chr10:57561041-57561063	GM20000	blood:	n/a	n/a
24	CTCF	chr10:57559443-57559532	Pancreas_OC	pancreas:	n/a	n/a
25	CTCF	chr10:57555978-57555995	LNCaP	prostate:	n/a	n/a
26	CTCF	chr10:57605420-57605570	GM12865	blood:	n/a	n/a
27	CTCF	chr10:57552009-57552043	LNCaP	prostate:	n/a	n/a
28	CTCF	chr10:57574360-57574510	GM12871	blood:	n/a	n/a
29	CTCF	chr10:57574477-57574549	LNCaP	prostate:	n/a	n/a
30	CTCF	chr10:57555932-57555975	LNCaP	prostate:	n/a	n/a
31	CTCF	chr10:57518013-57518044	LNCaP	prostate:	n/a	n/a
32	CTCF	chr10:57658420-57658570	Caco-2	colon:	n/a	n/a
33	CTCF	chr10:57567258-57567325	GM20000	blood:	n/a	n/a
34	CTCF	chr10:57625492-57625576	K562	blood:	n/a	n/a
35	CTCF	chr10:57540419-57540451	GM20000	blood:	n/a	n/a
36	CTCF	chr10:57523717-57523759	GM13977	blood:	n/a	n/a
37	CTCF	chr10:57663638-57663728	Lung_OC	lung:	n/a	n/a
38	E2F4	chr10:57651254-57651537	MCF10A-Er-Src	breast:	n/a	n/a
39	E2F6	chr10:57657219-57657696	H1-hESC	embryonic stem cell:	n/a	n/a
40	EBF1	chr10:57696304-57696353	GM12878	blood:	n/a	n/a
41	EGR1	chr10:57579817-57580166	H1-hESC	embryonic stem cell:	n/a	n/a
42	EP300	chr10:57552899-57553099	Hela-S3	cervix:	n/a	n/a
43	EP300	chr10:57552763-57553163	A549	lung:	n/a	n/a
44	EP300	chr10:57600521-57600617	K562	blood:	n/a	n/a
45	EP300	chr10:57672372-57672406	GM12878	blood:	n/a	n/a
46	FAM48A	chr10:57506843-57507037	GM12878	blood:	n/a	n/a
47	FAM48A	chr10:57635841-57636036	GM12878	blood:	n/a	n/a
48	FOS	chr10:57510317-57510570	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr10:57574668-57574793	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr10:57575489-57575813	MCF10A-Er-Src	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:57659566-57659616	SAEC	small airway:	n/a
2	chr10:57659702-57659752	U87	brain:	n/a
3	chr10:57659702-57659752	AG09319	gingival:	n/a
4	chr10:57659702-57659752	A549	lung:	n/a
5	chr10:57659566-57659616	Caco-2	colon:	n/a
6	chr10:57659702-57659752	Jurkat	blood:	n/a
7	chr10:57659566-57659616	ECC-1	luminal epithelium:	n/a
8	chr10:57659702-57659752	NH-A	brain:	n/a
9	chr10:57659566-57659616	SK-N-SH	brain:	n/a
10	chr10:57659702-57659752	HCT-116	colon:	n/a
11	chr10:57659702-57659752	Caco-2	colon:	n/a
12	chr10:57659702-57659752	T-47D	breast:	n/a
13	chr10:57659566-57659616	Hepatocyte	liver:	n/a
14	chr10:57659566-57659616	AG04450	lung:	fetal
15	chr10:57659702-57659752	GM12878	blood:	n/a
16	chr10:57659566-57659616	HRPEpiC	eye:	n/a
17	chr10:57659566-57659616	GM06990	blood:	n/a
18	chr10:57659702-57659752	GM12891	blood:	n/a
19	chr10:57659566-57659616	MCF10A-Er-Src	breast:	n/a
20	chr10:57659702-57659752	SK-N-SH	brain:	n/a
21	chr10:57659566-57659616	NT2-D1	testis:	n/a
22	chr10:57659702-57659752	MCF10A-Er-Src	breast:	n/a
23	chr10:57659702-57659752	SAEC	small airway:	n/a
24	chr10:57659702-57659752	HL-60	blood:	n/a
25	chr10:57659566-57659616	AG04449	skin:	fetal
26	chr10:57659566-57659616	HAEpiC	amniotic membrane:	n/a
27	chr10:57659566-57659616	HCM	heart:	n/a
28	chr10:57659702-57659752	NT2-D1	testis:	n/a
29	chr10:57659566-57659616	RPTEC	kidney:	n/a
30	chr10:57659702-57659752	Hepatocyte	liver:	n/a
31	chr10:57659566-57659616	HepG2	liver:	n/a
32	chr10:57659702-57659752	ECC-1	luminal epithelium:	n/a
33	chr10:57659702-57659752	IMR90	lung:	fetal
34	chr10:57659566-57659616	HUVEC	blood vessel:	n/a
35	chr10:57659702-57659752	CMK	blood:	n/a
36	chr10:57659702-57659752	ProgFib	skin:	n/a
37	chr10:57659566-57659616	HIPEpiC	eye:	n/a
38	chr10:57659702-57659752	HepG2	liver:	n/a
39	chr10:57659566-57659616	ovcar-3	ovarian:	n/a
40	chr10:57659702-57659752	BJ	skin:	n/a
41	chr10:57659566-57659616	HCT-116	colon:	n/a
42	chr10:57659702-57659752	AG10803	skin:	n/a
43	chr10:57659702-57659752	K562	blood:	n/a
44	chr10:57659702-57659752	PANC-1	pancreas:	n/a
45	chr10:57659702-57659752	BE2_C	brain:	n/a
46	chr10:57659566-57659616	NHDF-neo	bronchial:	n/a
47	chr10:57659702-57659752	GM19239	blood:	n/a
48	chr10:57659702-57659752	NB4	blood:	n/a
49	chr10:57659702-57659752	PFSK-1	brain:	n/a
50	chr10:57659702-57659752	HAEpiC	amniotic membrane:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:55961337..55963211-chr10:57586910..57589588,2	K562	blood:
2	chr10:57624031..57627084-chr10:57627386..57630706,3	K562	blood:
3	chr10:57689140..57691906-chr10:57693909..57695941,3	K562	blood:
4	chr10:57624031..57627084-chr10:57627386..57630706,3	K562	blood:
5	chr10:57689140..57691906-chr10:57693909..57695941,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MTRNR2L5-5	chr10:57506311-57506668	NONHSAT013465

No data

Variant related genes	Relation type
ENSG00000270541	TF binding region
ENSG00000270541	CpG island

Extended variants
information (count: 1877 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1877 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185026277	chr10:57504996-57504997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138359432	chr10:57505008-57505009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545405755	chr10:57505015-57505016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558791395	chr10:57505019-57505020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575555951	chr10:57505043-57505044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73271056	chr10:57505051-57505052	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs545602642	chr10:57505059-57505060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530272949	chr10:57505064-57505065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10763255	chr10:57505066-57505067	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs147377854	chr10:57505073-57505074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181030658	chr10:57505102-57505103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145314575	chr10:57505108-57505109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552617201	chr10:57505134-57505135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186072858	chr10:57505156-57505157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116086234	chr10:57505170-57505171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs72790923	chr10:57505180-57505181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140951267	chr10:57505214-57505215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533793075	chr10:57505256-57505257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553790688	chr10:57505262-57505263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570229103	chr10:57505274-57505275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539019472	chr10:57505275-57505276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9416401	chr10:57505297-57505298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191220324	chr10:57505321-57505322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575668732	chr10:57505323-57505324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140708972	chr10:57505366-57505367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181149063	chr10:57505370-57505371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186851860	chr10:57505374-57505375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372962060	chr10:57505385-57505386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73271058	chr10:57505400-57505401	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs191989073	chr10:57505462-57505463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532391342	chr10:57505470-57505471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376210632	chr10:57505498-57505499	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs373253811	chr10:57505599-57505600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73271063	chr10:57505623-57505624	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs138399944	chr10:57505696-57505697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562855480	chr10:57505712-57505713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73271065	chr10:57505719-57505720	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs548584290	chr10:57505722-57505723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115974271	chr10:57505723-57505724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561844691	chr10:57505770-57505771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149634673	chr10:57505771-57505772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547296660	chr10:57505850-57505851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570341714	chr10:57505901-57505902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539134030	chr10:57505930-57505931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182825953	chr10:57505964-57505965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs78886126	chr10:57505966-57505967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73271069	chr10:57506010-57506011	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs534514890	chr10:57506014-57506015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs115720328	chr10:57506054-57506055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140021429	chr10:57506099-57506100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
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
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
Obesity	21956041	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	20858243	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	17426248	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	18511947	CNVD

Chromatin state (count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:57500800-57506800	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr10:57501000-57506200	Weak transcription	Liver	Liver
3	chr10:57506200-57507400	Enhancers	Liver	Liver
4	chr10:57506400-57507600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr10:57506600-57507600	Enhancers	H1 Cell Line	embryonic stem cell
6	chr10:57506600-57507600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr10:57506800-57507400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr10:57506800-57507400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr10:57506800-57507400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr10:57506800-57507600	Enhancers	H9 Cell Line	embryonic stem cell
11	chr10:57506800-57507600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr10:57506800-57507600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr10:57506800-57507800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr10:57507000-57507600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr10:57527800-57528400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr10:57528000-57528400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr10:57528000-57528400	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr10:57546000-57546400	Enhancers	Liver	Liver
19	chr10:57546400-57546600	Flanking Active TSS	Liver	Liver
20	chr10:57546600-57546800	Enhancers	Liver	Liver
21	chr10:57556800-57557800	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr10:57557000-57557200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr10:57557000-57557800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr10:57557200-57558000	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr10:57557800-57558000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr10:57559400-57559600	Enhancers	Fetal Brain Male	brain
27	chr10:57559600-57560400	Weak transcription	Fetal Brain Male	brain
28	chr10:57559800-57560200	Enhancers	Liver	Liver
29	chr10:57560200-57560600	Flanking Active TSS	Liver	Liver
30	chr10:57560200-57560800	Enhancers	Fetal Brain Female	brain
31	chr10:57560400-57561200	Enhancers	Fetal Brain Male	brain
32	chr10:57560600-57561200	Active TSS	Liver	Liver
33	chr10:57561200-57562000	Enhancers	Liver	Liver
34	chr10:57561200-57570200	Weak transcription	Fetal Brain Male	brain
35	chr10:57570200-57570400	Enhancers	Fetal Brain Male	brain
36	chr10:57571600-57572000	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr10:57572800-57574400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
38	chr10:57573000-57573400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr10:57573000-57574400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr10:57573000-57576600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr10:57574200-57574400	ZNF genes & repeats	Pancreas	Pancrea
42	chr10:57574400-57576800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr10:57574400-57582200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr10:57575200-57576400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr10:57576400-57577800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
46	chr10:57576800-57577400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
47	chr10:57576800-57577800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
48	chr10:57577400-57582200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr10:57577800-57579200	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr10:57577800-57581400	Weak transcription	H1 Cell Line	embryonic stem cell

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