Variant report

Variant	nsv895497
Chromosome Location	chr10:57442672-57611683
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:346)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:346 , 50 per page) page: 1 2 3 4 5 6 7

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	BATF	chr10:57518775-57519069	GM12878	blood:	n/a	chr10:57518959-57518970
3	BATF	chr10:57518771-57519015	GM12878	blood:	n/a	chr10:57518959-57518970
4	BCL11A	chr10:57518766-57519117	GM12878	blood:	n/a	n/a
5	CEBPB	chr10:57483591-57483950	A549	lung:	n/a	chr10:57483842-57483853
6	CEBPB	chr10:57493945-57494290	A549	lung:	n/a	chr10:57494109-57494118 chr10:57494109-57494118 chr10:57494107-57494118 chr10:57494109-57494118
7	CEBPB	chr10:57512468-57512713	K562	blood:	n/a	n/a
8	CEBPB	chr10:57483653-57483898	IMR90	lung:	n/a	chr10:57483842-57483853
9	CEBPB	chr10:57552760-57553149	A549	lung:	n/a	n/a
10	CEBPB	chr10:57512602-57512721	A549	lung:	n/a	n/a
11	CEBPB	chr10:57494052-57494186	H1-hESC	embryonic stem cell:	n/a	chr10:57494109-57494118 chr10:57494109-57494118 chr10:57494107-57494118 chr10:57494109-57494118
12	CEBPB	chr10:57493973-57494246	HepG2	liver:	n/a	chr10:57494109-57494118 chr10:57494109-57494118 chr10:57494107-57494118 chr10:57494109-57494118
13	CEBPB	chr10:57495562-57495924	HepG2	liver:	n/a	n/a
14	CEBPB	chr10:57560874-57561053	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr10:57507027-57507291	HepG2	liver:	n/a	n/a
16	CEBPB	chr10:57506975-57507448	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr10:57493950-57494263	IMR90	lung:	n/a	chr10:57494109-57494118 chr10:57494109-57494118 chr10:57494107-57494118 chr10:57494109-57494118
18	CEBPB	chr10:57483522-57483901	H1-hESC	embryonic stem cell:	n/a	chr10:57483842-57483853
19	CEBPB	chr10:57552815-57553184	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr10:57483521-57483980	HepG2	liver:	n/a	chr10:57483842-57483853
21	CEBPZ	chr10:57480976-57481001	HepG2	liver:	n/a	n/a
22	CTCF	chr10:57500680-57500830	Caco-2	colon:	n/a	n/a
23	CTCF	chr10:57500620-57500806	MCF-7	breast:	n/a	n/a
24	CTCF	chr10:57502180-57502330	Caco-2	colon:	n/a	n/a
25	CTCF	chr10:57500560-57500710	GM12868	blood:	n/a	n/a
26	CTCF	chr10:57500625-57500809	HepG2	liver:	n/a	n/a
27	CTCF	chr10:57581601-57581645	GM20000	blood:	n/a	n/a
28	CTCF	chr10:57500560-57500710	BE2_C	brain:	n/a	n/a
29	CTCF	chr10:57500640-57500790	HRPEpiC	eye:	n/a	n/a
30	CTCF	chr10:57500623-57500818	Spleen_OC	spleen:	n/a	n/a
31	CTCF	chr10:57552009-57552043	LNCaP	prostate:	n/a	n/a
32	CTCF	chr10:57452260-57452410	GM12875	blood:	n/a	n/a
33	CTCF	chr10:57567258-57567325	GM20000	blood:	n/a	n/a
34	CTCF	chr10:57500620-57500770	HAc	cerebellar:	n/a	n/a
35	CTCF	chr10:57500526-57500874	A549	lung:	n/a	n/a
36	CTCF	chr10:57500980-57501074	Medullo	brain:	n/a	n/a
37	CTCF	chr10:57500580-57500730	HUVEC	blood vessel:	n/a	n/a
38	CTCF	chr10:57500820-57500970	NHEK	skin:	n/a	n/a
39	CTCF	chr10:57523717-57523759	GM13977	blood:	n/a	n/a
40	CTCF	chr10:57500600-57500750	HPAF	blood vessel:	n/a	n/a
41	CTCF	chr10:57500461-57500515	GM13977	blood:	n/a	n/a
42	CTCF	chr10:57500547-57500581	GM10248	blood:	n/a	n/a
43	CTCF	chr10:57500605-57500826	Lung_OC	lung:	n/a	n/a
44	CTCF	chr10:57500660-57500810	HPF	lung:	n/a	n/a
45	CTCF	chr10:57500640-57500790	WERI-Rb-1	eye:	n/a	n/a
46	CTCF	chr10:57605420-57605570	GM12865	blood:	n/a	n/a
47	CTCF	chr10:57500567-57500843	A549	lung:	n/a	n/a
48	CTCF	chr10:57574360-57574510	GM12871	blood:	n/a	n/a
49	CTCF	chr10:57500680-57500830	HCT-116	colon:	n/a	n/a
50	CTCF	chr10:57500600-57500750	HCFaa	heart:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:57448681-57448731	ovcar-3	ovarian:	n/a
2	chr10:57448681-57448731	NH-A	brain:	n/a
3	chr10:57448681-57448731	SK-N-SH	brain:	n/a
4	chr10:57448681-57448731	HepG2	liver:	n/a
5	chr10:57448681-57448731	HCF	heart:	n/a
6	chr10:57448681-57448731	HRPEpiC	eye:	n/a
7	chr10:57448681-57448731	SK-N-SH_RA	brain:	n/a
8	chr10:57448681-57448731	T-47D	breast:	n/a
9	chr10:57448681-57448731	H1-hESC	embryonic stem cell:	embryo
10	chr10:57448681-57448731	MCF10A-Er-Src	breast:	n/a
11	chr10:57448681-57448731	MCF-7	breast:	n/a
12	chr10:57448681-57448731	HIPEpiC	eye:	n/a
13	chr10:57448681-57448731	HEK293	kidney:	embryo
14	chr10:57448681-57448731	HCT-116	colon:	n/a
15	chr10:57448681-57448731	GM12891	blood:	n/a
16	chr10:57448681-57448731	AG10803	skin:	n/a
17	chr10:57448681-57448731	AG09319	gingival:	n/a
18	chr10:57448681-57448731	AG09309	skin:	n/a
19	chr10:57448681-57448731	IMR90	lung:	fetal
20	chr10:57448681-57448731	HCM	heart:	n/a
21	chr10:57448681-57448731	PFSK-1	brain:	n/a
22	chr10:57448681-57448731	ECC-1	luminal epithelium:	n/a
23	chr10:57448681-57448731	HNPCEpiC	eye:	n/a
24	chr10:57448681-57448731	HL-60	blood:	n/a
25	chr10:57448681-57448731	Caco-2	colon:	n/a
26	chr10:57448681-57448731	Hepatocyte	liver:	n/a
27	chr10:57448681-57448731	BJ	skin:	n/a
28	chr10:57448681-57448731	AoSMC	blood vessel:	n/a
29	chr10:57448681-57448731	SK-N-MC	brain:	n/a
30	chr10:57448681-57448731	HMEC	breast:	n/a
31	chr10:57448681-57448731	ProgFib	skin:	n/a
32	chr10:57448681-57448731	NB4	blood:	n/a
33	chr10:57448681-57448731	SAEC	small airway:	n/a
34	chr10:57448681-57448731	CMK	blood:	n/a
35	chr10:57448681-57448731	GM12878	blood:	n/a
36	chr10:57448681-57448731	RPTEC	kidney:	n/a
37	chr10:57448681-57448731	BE2_C	brain:	n/a
38	chr10:57448681-57448731	A549	lung:	n/a
39	chr10:57448681-57448731	GM06990	blood:	n/a
40	chr10:57448681-57448731	Hela-S3	cervix:	n/a
41	chr10:57448681-57448731	SKMC	muscle:	n/a
42	chr10:57448681-57448731	HPAEpiC	pulmonary alveolar:	n/a
43	chr10:57448681-57448731	PrEC	prostate:	n/a
44	chr10:57448681-57448731	NHDF-neo	bronchial:	n/a
45	chr10:57448681-57448731	NHBE	bronchial:	n/a
46	chr10:57448681-57448731	AG04449	skin:	fetal
47	chr10:57448681-57448731	NT2-D1	testis:	n/a
48	chr10:57448681-57448731	HRE	kidney:	n/a
49	chr10:57448681-57448731	K562	blood:	n/a
50	chr10:57448681-57448731	GM19239	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr10:57475413..57477793-chr10:57482048..57484055,2	K562	blood:
2	chr10:55961337..55963211-chr10:57586910..57589588,2	K562	blood:
3	chr10:57475413..57477793-chr10:57482048..57484055,2	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: 1602 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1602 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577044552	chr10:57463683-57463684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545791428	chr10:57463687-57463688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73259126	chr10:57463705-57463706	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs575997610	chr10:57463741-57463742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs79566302	chr10:57463798-57463799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10825576	chr10:57463834-57463835	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs115113376	chr10:57463869-57463870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546220631	chr10:57463870-57463871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540687185	chr10:57463879-57463880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560193215	chr10:57463911-57463912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73259127	chr10:57463942-57463943	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs12415968	chr10:57463965-57463966	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs568922578	chr10:57463975-57463976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12412236	chr10:57463976-57463977	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs372622075	chr10:57464022-57464023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568214256	chr10:57464028-57464029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552321956	chr10:57464120-57464121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181045210	chr10:57464130-57464131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554034373	chr10:57464155-57464156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570556897	chr10:57464156-57464157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs368384547	chr10:57464166-57464167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534385223	chr10:57464194-57464195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs10825577	chr10:57464203-57464204	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs185914573	chr10:57464215-57464216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73259130	chr10:57464248-57464249	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs554979505	chr10:57464269-57464270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191430680	chr10:57464281-57464282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs79155929	chr10:57464307-57464308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369436372	chr10:57464367-57464368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73259131	chr10:57464369-57464370	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs532431193	chr10:57464378-57464379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148377084	chr10:57464380-57464381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369746429	chr10:57464420-57464421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs10763244	chr10:57464443-57464444	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs531626148	chr10:57464446-57464447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs141602225	chr10:57464458-57464459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563614238	chr10:57464484-57464485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs117611167	chr10:57464559-57464560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs34377962	chr10:57464563-57464564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs79649041	chr10:57464595-57464596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547602742	chr10:57464601-57464602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543045684	chr10:57464615-57464616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10763245	chr10:57464616-57464617	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs113408285	chr10:57464618-57464619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs73259133	chr10:57464695-57464696	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs569598535	chr10:57464702-57464703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs535089505	chr10:57464712-57464713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs10825578	chr10:57464774-57464775	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs182464485	chr10:57464784-57464785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572079330	chr10:57483405-57483406	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:57463600-57464200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr10:57463800-57464800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr10:57464400-57464800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr10:57483400-57484000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr10:57496600-57497000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr10:57496600-57497000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr10:57496600-57497000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr10:57496600-57497000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr10:57496600-57497200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr10:57496600-57497200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr10:57496600-57497400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr10:57497000-57499600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr10:57497000-57499600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr10:57497200-57499600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr10:57497400-57499600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr10:57499400-57500200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr10:57499600-57499800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr10:57499600-57499800	Enhancers	Pancreas	Pancrea
19	chr10:57499600-57500000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr10:57499600-57500400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr10:57499600-57500400	Enhancers	Fetal Heart	heart
22	chr10:57499600-57500800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr10:57499600-57501000	Enhancers	Liver	Liver
24	chr10:57499800-57500200	Enhancers	HepG2	liver
25	chr10:57500000-57500200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr10:57500800-57506800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr10:57501000-57506200	Weak transcription	Liver	Liver
28	chr10:57506200-57507400	Enhancers	Liver	Liver
29	chr10:57506400-57507600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr10:57506600-57507600	Enhancers	H1 Cell Line	embryonic stem cell
31	chr10:57506600-57507600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr10:57506800-57507400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr10:57506800-57507400	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr10:57506800-57507400	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr10:57506800-57507600	Enhancers	H9 Cell Line	embryonic stem cell
36	chr10:57506800-57507600	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr10:57506800-57507600	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr10:57506800-57507800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr10:57507000-57507600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr10:57527800-57528400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr10:57528000-57528400	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr10:57528000-57528400	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr10:57546000-57546400	Enhancers	Liver	Liver
44	chr10:57546400-57546600	Flanking Active TSS	Liver	Liver
45	chr10:57546600-57546800	Enhancers	Liver	Liver
46	chr10:57556800-57557800	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr10:57557000-57557200	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr10:57557000-57557800	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr10:57557200-57558000	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr10:57557800-57558000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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