Variant report

Variant	nsv551120
Chromosome Location	chr10:59175140-59268478
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	BACH1	chr10:59217955-59218146	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr10:59226296-59226323	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr10:59178334-59178606	HepG2	liver:	n/a	chr10:59178462-59178473
4	CEBPB	chr10:59208672-59208938	IMR90	lung:	n/a	chr10:59208795-59208812 chr10:59208798-59208809
5	CEBPB	chr10:59232563-59233028	A549	lung:	n/a	chr10:59232716-59232725 chr10:59232714-59232725 chr10:59232716-59232725 chr10:59232716-59232725 chr10:59232715-59232726 chr10:59232716-59232725
6	CEBPB	chr10:59182290-59182570	Hela-S3	cervix:	n/a	chr10:59182426-59182437 chr10:59182426-59182435 chr10:59182424-59182437 chr10:59182424-59182437 chr10:59182424-59182437 chr10:59182426-59182435 chr10:59182426-59182435 chr10:59182426-59182435 chr10:59182426-59182437 chr10:59182424-59182435
7	CEBPB	chr10:59178283-59178604	A549	lung:	n/a	chr10:59178462-59178473
8	CEBPB	chr10:59178305-59178618	K562	blood:	n/a	chr10:59178462-59178473
9	CEBPB	chr10:59178281-59178623	IMR90	lung:	n/a	chr10:59178462-59178473
10	CEBPB	chr10:59208678-59208892	H1-hESC	embryonic stem cell:	n/a	chr10:59208795-59208812 chr10:59208798-59208809
11	CEBPB	chr10:59254315-59254530	HepG2	liver:	n/a	n/a
12	CEBPB	chr10:59232622-59232926	A549	lung:	n/a	chr10:59232716-59232725 chr10:59232714-59232725 chr10:59232716-59232725 chr10:59232716-59232725 chr10:59232715-59232726 chr10:59232716-59232725
13	CEBPB	chr10:59232641-59232855	A549	lung:	n/a	chr10:59232716-59232725 chr10:59232714-59232725 chr10:59232716-59232725 chr10:59232716-59232725 chr10:59232715-59232726 chr10:59232716-59232725
14	CEBPB	chr10:59182372-59182442	K562	blood:	n/a	chr10:59182426-59182437 chr10:59182426-59182435 chr10:59182424-59182437 chr10:59182424-59182437 chr10:59182424-59182437 chr10:59182426-59182435 chr10:59182426-59182435 chr10:59182426-59182435 chr10:59182426-59182437 chr10:59182424-59182435
15	CEBPB	chr10:59208683-59208933	HepG2	liver:	n/a	chr10:59208795-59208812 chr10:59208798-59208809
16	CEBPB	chr10:59178294-59178628	Hela-S3	cervix:	n/a	chr10:59178462-59178473
17	CEBPB	chr10:59232607-59232816	HepG2	liver:	n/a	chr10:59232716-59232725 chr10:59232714-59232725 chr10:59232716-59232725 chr10:59232716-59232725 chr10:59232715-59232726 chr10:59232716-59232725
18	CEBPB	chr10:59254274-59254601	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr10:59208776-59208824	A549	lung:	n/a	chr10:59208795-59208812 chr10:59208798-59208809
20	CEBPB	chr10:59182281-59182505	HepG2	liver:	n/a	chr10:59182426-59182437 chr10:59182426-59182435 chr10:59182424-59182437 chr10:59182424-59182437 chr10:59182424-59182437 chr10:59182426-59182435 chr10:59182426-59182435 chr10:59182426-59182435 chr10:59182426-59182437 chr10:59182424-59182435
21	CEBPB	chr10:59232552-59232999	Hela-S3	cervix:	n/a	chr10:59232716-59232725 chr10:59232714-59232725 chr10:59232716-59232725 chr10:59232716-59232725 chr10:59232715-59232726 chr10:59232716-59232725
22	CEBPB	chr10:59178284-59178619	H1-hESC	embryonic stem cell:	n/a	chr10:59178462-59178473
23	CEBPB	chr10:59182363-59182520	A549	lung:	n/a	chr10:59182426-59182437 chr10:59182426-59182435 chr10:59182424-59182437 chr10:59182424-59182437 chr10:59182424-59182437 chr10:59182426-59182435 chr10:59182426-59182435 chr10:59182426-59182435 chr10:59182426-59182437 chr10:59182424-59182435
24	CTCF	chr10:59247482-59247508	GM10248	blood:	n/a	n/a
25	CTCF	chr10:59262340-59262490	GM12801	blood:	n/a	n/a
26	CTCF	chr10:59216955-59217117	K562	blood:	n/a	n/a
27	CTCF	chr10:59267736-59267755	GM20000	blood:	n/a	n/a
28	CTCF	chr10:59197880-59198030	HRE	kidney:	n/a	n/a
29	CTCF	chr10:59260543-59260575	GM10248	blood:	n/a	n/a
30	E2F4	chr10:59181553-59181776	MCF10A-Er-Src	breast:	n/a	n/a
31	E2F4	chr10:59229092-59229339	MCF10A-Er-Src	breast:	n/a	n/a
32	EBF1	chr10:59251015-59251055	GM12878	blood:	n/a	n/a
33	EP300	chr10:59232539-59233076	A549	lung:	n/a	chr10:59232574-59232582 chr10:59232737-59232747
34	EP300	chr10:59253999-59254139	GM12878	blood:	n/a	n/a
35	EP300	chr10:59218121-59218183	GM12878	blood:	n/a	n/a
36	FOS	chr10:59236061-59236219	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr10:59232684-59233333	Hela-S3	cervix:	n/a	chr10:59233218-59233229 chr10:59233219-59233228 chr10:59233221-59233232
38	FOS	chr10:59236074-59236200	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr10:59236045-59236226	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr10:59225005-59225798	Hela-S3	cervix:	n/a	n/a
41	FOSL2	chr10:59232603-59233290	A549	lung:	n/a	chr10:59233218-59233229 chr10:59233219-59233228 chr10:59232616-59232628 chr10:59233221-59233232
42	FOXA1	chr10:59228708-59229074	T-47D	breast:	n/a	chr10:59228845-59228860
43	FOXA1	chr10:59228731-59228982	T-47D	breast:	n/a	chr10:59228845-59228860
44	GATA2	chr10:59241875-59242881	SH-SY5Y	brain:	n/a	n/a
45	GATA3	chr10:59232599-59233066	MCF-7	breast:	n/a	chr10:59232937-59232944 chr10:59232934-59232944 chr10:59232937-59232944 chr10:59232937-59232944 chr10:59232766-59232773
46	GATA3	chr10:59228951-59229161	SH-SY5Y	brain:	n/a	n/a
47	GATA3	chr10:59232588-59233215	A549	lung:	n/a	chr10:59232937-59232944 chr10:59232934-59232944 chr10:59232937-59232944 chr10:59232937-59232944 chr10:59232766-59232773
48	GATA3	chr10:59228795-59229294	T-47D	breast:	n/a	n/a
49	GATA3	chr10:59241857-59242549	SH-SY5Y	brain:	n/a	n/a
50	GATA3	chr10:59228806-59229158	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:59173064..59175096-chr10:59176934..59178723,2	K562	blood:

Variant related genes	Relation type
ENSG00000235810	TF binding region

Extended variants
information (count: 598 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:598 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16910616	chr10:59180622-59180623	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs556873315	chr10:59180672-59180673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs16910621	chr10:59180681-59180682	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs545393675	chr10:59180696-59180697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560689979	chr10:59180712-59180713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572562524	chr10:59180763-59180764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539932099	chr10:59180778-59180779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561494455	chr10:59180789-59180790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs35237959	chr10:59180839-59180840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528838099	chr10:59180859-59180860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543842228	chr10:59180908-59180909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562162465	chr10:59180976-59180977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184564160	chr10:59180997-59180998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs533229679	chr10:59181004-59181005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564987675	chr10:59181026-59181027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs59408213	chr10:59181049-59181050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566619016	chr10:59181056-59181057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201587163	chr10:59181061-59181062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201870650	chr10:59181063-59181064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs201887605	chr10:59181069-59181070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200836563	chr10:59181070-59181071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs386371494	chr10:59181077-59181078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs369265082	chr10:59181079-59181080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs527536306	chr10:59181118-59181119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549496844	chr10:59181146-59181147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs199784224	chr10:59181176-59181177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187652889	chr10:59181198-59181199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs187237412	chr10:59217438-59217439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191725757	chr10:59217455-59217456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs181737374	chr10:59217553-59217554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569698306	chr10:59217558-59217559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536780354	chr10:59217594-59217595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs75965913	chr10:59217599-59217600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576473325	chr10:59217625-59217626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534329204	chr10:59217633-59217634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570590644	chr10:59217635-59217636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs76751382	chr10:59217640-59217641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574665615	chr10:59217673-59217674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541974344	chr10:59217734-59217735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185306352	chr10:59217771-59217772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575670962	chr10:59217798-59217799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546366075	chr10:59217801-59217802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs531726620	chr10:59217841-59217842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs145370928	chr10:59217902-59217903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549880199	chr10:59217933-59217934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs74855366	chr10:59217940-59217941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547016464	chr10:59218000-59218001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs562376716	chr10:59218083-59218084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372633315	chr10:59218091-59218092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs190071162	chr10:59218109-59218110	Enhancers	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
small cell lung cancer	17426248	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Schizophrenia	23813976	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:59180600-59181000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr10:59180800-59181200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr10:59217400-59218400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr10:59217400-59218600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr10:59217600-59218200	Enhancers	H1 Cell Line	embryonic stem cell
6	chr10:59217600-59218400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr10:59217800-59218200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr10:59217800-59218600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr10:59218400-59219400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr10:59219400-59219600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr10:59232600-59233200	Enhancers	A549	lung
12	chr10:59232600-59234000	Enhancers	Hela-S3	cervix
13	chr10:59238800-59239000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr10:59239800-59241800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr10:59241800-59242200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr10:59242200-59242400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr10:59242400-59242800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr10:59242800-59243200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr10:59243200-59245800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr10:59245800-59247200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr10:59247200-59248800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr10:59266400-59267800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
23	chr10:59267600-59268000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr10:59268000-59273400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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