Variant report

Variant	nsv467254
Chromosome Location	chr10:57134988-57292460
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	ATF1	chr10:57279661-57279683	K562	blood:	n/a	n/a
2	ATF3	chr10:57260799-57261003	H1-hESC	embryonic stem cell:	n/a	n/a
3	BATF	chr10:57236016-57236217	GM12878	blood:	n/a	chr10:57236116-57236127 chr10:57236117-57236127 chr10:57236113-57236123
4	BATF	chr10:57142366-57142608	GM12878	blood:	n/a	chr10:57142479-57142489 chr10:57142478-57142489
5	BHLHE40	chr10:57206631-57206648	GM12878	blood:	n/a	n/a
6	CEBPB	chr10:57223962-57224203	MCF-7	breast:	n/a	chr10:57224046-57224055 chr10:57224046-57224055 chr10:57224046-57224055 chr10:57224044-57224057 chr10:57224045-57224056 chr10:57224044-57224057 chr10:57224046-57224055 chr10:57224044-57224055
7	CEBPB	chr10:57272254-57272733	ECC-1	luminal epithelium:	n/a	n/a
8	CEBPB	chr10:57223868-57224227	HepG2	liver:	n/a	chr10:57224046-57224055 chr10:57224046-57224055 chr10:57224046-57224055 chr10:57224044-57224057 chr10:57224045-57224056 chr10:57224044-57224057 chr10:57224046-57224055 chr10:57224044-57224055
9	CEBPB	chr10:57223860-57224228	IMR90	lung:	n/a	chr10:57224046-57224055 chr10:57224046-57224055 chr10:57224046-57224055 chr10:57224044-57224057 chr10:57224045-57224056 chr10:57224044-57224057 chr10:57224046-57224055 chr10:57224044-57224055
10	CEBPB	chr10:57224999-57225269	MCF-7	breast:	n/a	chr10:57225110-57225123
11	CEBPB	chr10:57252782-57253000	HepG2	liver:	n/a	chr10:57252833-57252844
12	CEBPB	chr10:57162077-57162382	HepG2	liver:	n/a	chr10:57162197-57162208
13	CEBPB	chr10:57249444-57249557	K562	blood:	n/a	chr10:57249514-57249525 chr10:57249514-57249527 chr10:57249514-57249527 chr10:57249513-57249530
14	CEBPB	chr10:57237218-57237556	IMR90	lung:	n/a	n/a
15	CEBPB	chr10:57224946-57225254	ECC-1	luminal epithelium:	n/a	chr10:57225110-57225123
16	CEBPB	chr10:57216442-57216528	A549	lung:	n/a	n/a
17	CEBPB	chr10:57223877-57224215	H1-hESC	embryonic stem cell:	n/a	chr10:57224046-57224055 chr10:57224046-57224055 chr10:57224046-57224055 chr10:57224044-57224057 chr10:57224045-57224056 chr10:57224044-57224057 chr10:57224046-57224055 chr10:57224044-57224055
18	CEBPB	chr10:57225080-57225148	H1-hESC	embryonic stem cell:	n/a	chr10:57225110-57225123
19	CEBPB	chr10:57237198-57237523	HepG2	liver:	n/a	n/a
20	CEBPB	chr10:57273208-57273319	A549	lung:	n/a	n/a
21	CEBPB	chr10:57224982-57225266	A549	lung:	n/a	chr10:57225110-57225123
22	CEBPB	chr10:57224928-57225311	ECC-1	luminal epithelium:	n/a	chr10:57225110-57225123
23	CEBPB	chr10:57237245-57237567	H1-hESC	embryonic stem cell:	n/a	n/a
24	CEBPB	chr10:57224956-57225167	HepG2	liver:	n/a	chr10:57225110-57225123
25	CEBPB	chr10:57223863-57224203	Hela-S3	cervix:	n/a	chr10:57224046-57224055 chr10:57224046-57224055 chr10:57224046-57224055 chr10:57224044-57224057 chr10:57224045-57224056 chr10:57224044-57224057 chr10:57224046-57224055 chr10:57224044-57224055
26	CEBPB	chr10:57223856-57224207	K562	blood:	n/a	chr10:57224046-57224055 chr10:57224046-57224055 chr10:57224046-57224055 chr10:57224044-57224057 chr10:57224045-57224056 chr10:57224044-57224057 chr10:57224046-57224055 chr10:57224044-57224055
27	CEBPB	chr10:57223862-57224215	A549	lung:	n/a	chr10:57224046-57224055 chr10:57224046-57224055 chr10:57224046-57224055 chr10:57224044-57224057 chr10:57224045-57224056 chr10:57224044-57224057 chr10:57224046-57224055 chr10:57224044-57224055
28	CHD1	chr10:57260928-57260943	GM12878	blood:	n/a	n/a
29	CREB1	chr10:57260621-57261077	H1-hESC	embryonic stem cell:	n/a	n/a
30	CREB1	chr10:57260588-57261143	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr10:57260740-57260890	AG04450	lung:	n/a	n/a
32	CTCF	chr10:57193910-57193952	LNCaP	prostate:	n/a	n/a
33	CTCF	chr10:57170374-57170743	SK-N-SH_RA	brain:	n/a	chr10:57170551-57170572
34	CTCF	chr10:57260787-57261049	LNCaP	prostate:	n/a	n/a
35	CTCF	chr10:57170483-57170664	ProgFib	skin:	n/a	chr10:57170551-57170572
36	CTCF	chr10:57269600-57269750	HPF	lung:	n/a	n/a
37	CTCF	chr10:57260813-57261008	Pancreas_OC	pancreas:	n/a	n/a
38	CTCF	chr10:57160960-57161110	NHDF-neo	bronchial:	n/a	n/a
39	CTCF	chr10:57170480-57170630	HPF	lung:	n/a	chr10:57170551-57170572
40	CTCF	chr10:57292340-57292490	HEEpiC	esophagus:	n/a	n/a
41	CTCF	chr10:57150120-57150270	Caco-2	colon:	n/a	n/a
42	CTCF	chr10:57260627-57261066	MCF-7	breast:	n/a	n/a
43	CTCF	chr10:57260860-57261010	GM12801	blood:	n/a	n/a
44	CTCF	chr10:57260840-57260990	BE2_C	brain:	n/a	n/a
45	CTCF	chr10:57170440-57170590	BE2_C	brain:	n/a	chr10:57170551-57170572
46	CTCF	chr10:57260840-57260990	HFF-Myc	foreskin:	n/a	n/a
47	CTCF	chr10:57170460-57170610	HRE	kidney:	n/a	chr10:57170551-57170572
48	CTCF	chr10:57260840-57260990	AG04450	lung:	n/a	n/a
49	CTCF	chr10:57260840-57260990	HCPEpiC	choroid plexus:	n/a	n/a
50	CTCF	chr10:57241127-57241170	LNCaP	prostate:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:57223401..57225045-chr10:57228159..57229767,2	K562	blood:
2	chr10:57209977..57212489-chr10:57214390..57216525,2	K562	blood:
3	chr10:57283681..57286527-chr10:57289887..57292236,2	K562	blood:
4	chr10:57046804..57047423-chr10:57260630..57261301,2	MCF-7	breast:
5	chr10:57128438..57131267-chr10:57136615..57139314,2	K562	blood:
6	chr10:57209977..57212489-chr10:57214390..57216525,2	K562	blood:
7	chr10:57154707..57155371-chr10:83749526..83750393,2	MCF-7	breast:
8	chr10:57222292..57225045-chr10:57228159..57230147,2	K562	blood:
9	chr10:57177168..57179759-chr10:57181346..57183496,2	K562	blood:
10	chr10:57223401..57225045-chr10:57228159..57229767,2	K562	blood:
11	chr10:57229480..57229981-chr6:30931574..30932074,2	Hela-S3	cervix:
12	chr10:57283681..57286527-chr10:57289887..57292236,2	K562	blood:
13	chr10:57177168..57179759-chr10:57181346..57183496,2	K562	blood:
14	chr10:57222292..57225045-chr10:57228159..57230147,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MTRNR2L5-2	chr10:57228837-57228982	ENSG00000223800
2	lnc-MTRNR2L5-2	chr10:57228087-57228256	ENSG00000223800

Variant related genes	Relation type
ENSG00000223800	TF binding region
ENSG00000228048	TF binding region

Extended variants
information (count: 1293 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1293 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2488827	chr10:57134988-57134989	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs181575434	chr10:57135027-57135028	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537872039	chr10:57135036-57135037	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185677374	chr10:57135060-57135061	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144540306	chr10:57135124-57135125	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575326677	chr10:57135213-57135214	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190972938	chr10:57135214-57135215	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560726322	chr10:57135217-57135218	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35233790	chr10:57135230-57135231	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35070859	chr10:57135235-57135236	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529810572	chr10:57135243-57135244	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147845070	chr10:57135247-57135248	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560352763	chr10:57135266-57135267	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568878070	chr10:57135305-57135306	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148834347	chr10:57135318-57135319	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559845642	chr10:57135350-57135351	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182257846	chr10:57135482-57135483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187284874	chr10:57135496-57135497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559831395	chr10:57135517-57135518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548280214	chr10:57135550-57135551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs143443018	chr10:57135631-57135632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567877824	chr10:57135650-57135651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12220905	chr10:57135674-57135675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12220906	chr10:57135694-57135695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536817098	chr10:57135711-57135712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546981983	chr10:57135726-57135727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567151500	chr10:57135758-57135759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538699280	chr10:57135822-57135823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558513401	chr10:57135826-57135827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12784587	chr10:57135857-57135858	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs537969574	chr10:57135874-57135875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35236623	chr10:57135933-57135934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554609214	chr10:57135945-57135946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545609087	chr10:57136025-57136026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150918269	chr10:57136026-57136027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78050069	chr10:57136064-57136065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144639368	chr10:57136116-57136117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546275278	chr10:57136133-57136134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577055483	chr10:57136171-57136172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111872325	chr10:57136192-57136193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs16907294	chr10:57136228-57136229	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs138434427	chr10:57136229-57136230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190967140	chr10:57136234-57136235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548318160	chr10:57136280-57136281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561719459	chr10:57136300-57136301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550011012	chr10:57136303-57136304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142932490	chr10:57136310-57136311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547164281	chr10:57136312-57136313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567087675	chr10:57136333-57136334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182808694	chr10:57136399-57136400	Enhancers Weak transcription	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
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164919	CNVD
Acute myeloid leukemia	20962326	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:57130800-57135400	Weak transcription	NHDF-Ad	bronchial
2	chr10:57133400-57135600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr10:57134000-57135800	Enhancers	HUVEC	blood vessel
4	chr10:57134600-57135000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr10:57134800-57135000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr10:57135000-57135200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr10:57135000-57135200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr10:57135200-57135400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr10:57135200-57135400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr10:57135200-57135600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr10:57135400-57135600	Enhancers	NHDF-Ad	bronchial
12	chr10:57135400-57136800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr10:57135600-57140200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr10:57136800-57137800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr10:57138400-57138600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr10:57140200-57142800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr10:57140400-57140800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr10:57147200-57147600	Enhancers	Fetal Heart	heart
19	chr10:57147400-57148000	Enhancers	Fetal Brain Female	brain
20	chr10:57153400-57153600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr10:57153600-57157600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr10:57154200-57155400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr10:57154400-57155600	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr10:57154600-57154800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr10:57154600-57155200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr10:57154800-57157000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr10:57155000-57155400	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr10:57155000-57155600	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr10:57155200-57159800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr10:57155400-57159800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr10:57155400-57160000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr10:57155600-57157800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr10:57155600-57160000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr10:57156000-57159800	Weak transcription	HUVEC	blood vessel
35	chr10:57157000-57160800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr10:57157600-57158400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr10:57157800-57158200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr10:57157800-57158200	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr10:57158200-57158400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr10:57158200-57159800	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr10:57158400-57158600	Enhancers	NHDF-Ad	bronchial
42	chr10:57158600-57159600	Weak transcription	NHDF-Ad	bronchial
43	chr10:57158600-57159800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr10:57159400-57160600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr10:57159600-57160200	Enhancers	NHDF-Ad	bronchial
46	chr10:57159800-57160200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr10:57159800-57160400	Enhancers	HUVEC	blood vessel
48	chr10:57159800-57160600	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr10:57159800-57160600	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr10:57159800-57160600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links