Variant report

Variant	esv1815412
Chromosome Location	chr10:55446058-55522899
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	CEBPB	chr10:55482323-55482573	IMR90	lung:	n/a	chr10:55482450-55482463 chr10:55482451-55482462 chr10:55482452-55482461 chr10:55482452-55482461 chr10:55482450-55482461 chr10:55482452-55482461 chr10:55482450-55482463 chr10:55482452-55482461 chr10:55482450-55482463
2	CEBPB	chr10:55482351-55482593	HepG2	liver:	n/a	chr10:55482450-55482463 chr10:55482451-55482462 chr10:55482452-55482461 chr10:55482452-55482461 chr10:55482450-55482461 chr10:55482452-55482461 chr10:55482450-55482463 chr10:55482452-55482461 chr10:55482450-55482463
3	CEBPB	chr10:55456808-55457116	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr10:55495022-55495339	HepG2	liver:	n/a	n/a
5	CEBPB	chr10:55484526-55484810	A549	lung:	n/a	chr10:55484642-55484651 chr10:55484640-55484651 chr10:55484642-55484653 chr10:55484640-55484653
6	CEBPB	chr10:55484474-55484818	HepG2	liver:	n/a	chr10:55484642-55484651 chr10:55484640-55484651 chr10:55484642-55484653 chr10:55484640-55484653
7	CEBPB	chr10:55484473-55484797	IMR90	lung:	n/a	chr10:55484642-55484651 chr10:55484640-55484651 chr10:55484642-55484653 chr10:55484640-55484653
8	CEBPB	chr10:55494993-55495303	IMR90	lung:	n/a	n/a
9	CEBPB	chr10:55495099-55495137	K562	blood:	n/a	n/a
10	CEBPB	chr10:55495107-55495314	A549	lung:	n/a	n/a
11	CHD1	chr10:55509966-55509970	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr10:55474500-55474650	RPTEC	kidney:	n/a	n/a
13	CTCF	chr10:55489186-55489262	GM10266	blood:	n/a	n/a
14	CTCF	chr10:55505454-55505474	GM13976	blood:	n/a	n/a
15	CTCF	chr10:55449240-55449390	Caco-2	colon:	n/a	n/a
16	CTCF	chr10:55505420-55505570	HEK293	kidney:	n/a	n/a
17	CTCF	chr10:55449120-55449270	HEK293	kidney:	n/a	n/a
18	CTCF	chr10:55495240-55495390	Caco-2	colon:	n/a	n/a
19	CUX1	chr10:55468897-55469062	GM12878	blood:	n/a	n/a
20	E2F4	chr10:55499586-55499784	MCF10A-Er-Src	breast:	n/a	n/a
21	EP300	chr10:55458801-55461793	SK-N-SH	brain:	n/a	chr10:55461132-55461141 chr10:55461131-55461140 chr10:55461688-55461702
22	EP300	chr10:55450278-55450615	SK-N-SH_RA	brain:	n/a	n/a
23	EP300	chr10:55459301-55459901	SK-N-SH_RA	brain:	n/a	n/a
24	EP300	chr10:55449972-55451825	SK-N-SH	brain:	n/a	chr10:55450102-55450111 chr10:55450098-55450112
25	EP300	chr10:55459418-55459857	SK-N-SH_RA	brain:	n/a	n/a
26	EP300	chr10:55450271-55450944	SK-N-SH_RA	brain:	n/a	n/a
27	EP300	chr10:55460942-55461538	SK-N-SH_RA	brain:	n/a	chr10:55461132-55461141 chr10:55461131-55461140
28	ESR1	chr10:55462314-55462532	ECC-1	luminal epithelium:	n/a	chr10:55462421-55462438
29	FOS	chr10:55456783-55457132	MCF10A-Er-Src	breast:	n/a	chr10:55456961-55456970 chr10:55456961-55456971 chr10:55456960-55456971 chr10:55456963-55456970
30	FOS	chr10:55456749-55457153	MCF10A-Er-Src	breast:	n/a	chr10:55456961-55456970 chr10:55456961-55456971 chr10:55456960-55456971 chr10:55456963-55456970
31	FOS	chr10:55456774-55457124	MCF10A-Er-Src	breast:	n/a	chr10:55456961-55456970 chr10:55456961-55456971 chr10:55456960-55456971 chr10:55456963-55456970
32	FOS	chr10:55456776-55457150	MCF10A-Er-Src	breast:	n/a	chr10:55456961-55456970 chr10:55456961-55456971 chr10:55456960-55456971 chr10:55456963-55456970
33	FOXP2	chr10:55449117-55449281	PFSK-1	brain:	n/a	n/a
34	GATA2	chr10:55459306-55459941	SH-SY5Y	brain:	n/a	n/a
35	GATA2	chr10:55450108-55450968	SH-SY5Y	brain:	n/a	n/a
36	GATA3	chr10:55496980-55497180	SH-SY5Y	brain:	n/a	n/a
37	GATA3	chr10:55521044-55521244	SH-SY5Y	brain:	n/a	n/a
38	GATA3	chr10:55459251-55459936	SK-N-SH	brain:	n/a	n/a
39	GATA3	chr10:55459188-55460024	SK-N-SH	brain:	n/a	n/a
40	GATA3	chr10:55492091-55492279	SH-SY5Y	brain:	n/a	n/a
41	GATA3	chr10:55450353-55451081	SH-SY5Y	brain:	n/a	chr10:55451014-55451023
42	GATA3	chr10:55459250-55460231	SH-SY5Y	brain:	n/a	n/a
43	GATA3	chr10:55461147-55461623	SH-SY5Y	brain:	n/a	chr10:55461395-55461407 chr10:55461460-55461473 chr10:55461462-55461470 chr10:55461398-55461405
44	GATA3	chr10:55515402-55515674	SH-SY5Y	brain:	n/a	n/a
45	GATA3	chr10:55451977-55452209	SH-SY5Y	brain:	n/a	n/a
46	JUN	chr10:55456801-55457002	HepG2	liver:	n/a	chr10:55456961-55456970 chr10:55456961-55456971 chr10:55456960-55456971 chr10:55456963-55456970 chr10:55456938-55456951
47	JUND	chr10:55456835-55457088	HepG2	liver:	n/a	chr10:55456961-55456970 chr10:55456961-55456971 chr10:55456960-55456971 chr10:55456963-55456970 chr10:55456960-55456971
48	JUND	chr10:55478354-55478685	HepG2	liver:	n/a	n/a
49	KAP1	chr10:55449045-55449355	U2OS	brain:	n/a	n/a
50	KAP1	chr10:55456842-55457268	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:55466040..55468835-chr10:55471879..55474110,2	K562	blood:
2	chr10:55466040..55468835-chr10:55471879..55474110,2	K562	blood:
3	chr10:55481740..55482260-chr20:52673713..52674214,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233805	TF binding region

Extended variants
information (count: 1258 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1258 , 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	rs567372586	chr10:55449210-55449211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1489824	chr10:55449214-55449215	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs191253759	chr10:55449223-55449224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566796286	chr10:55449226-55449227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538539481	chr10:55449231-55449232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs11003768	chr10:55449251-55449252	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs139481953	chr10:55449324-55449325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537163665	chr10:55449347-55449348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376067893	chr10:55449407-55449408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574163002	chr10:55449417-55449418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs12355362	chr10:55449432-55449433	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs372660893	chr10:55449461-55449462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573510089	chr10:55449462-55449463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545703425	chr10:55449467-55449468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs114843766	chr10:55449472-55449473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575285932	chr10:55449481-55449482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183736315	chr10:55449504-55449505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374756603	chr10:55449531-55449532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565869986	chr10:55449532-55449533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529743226	chr10:55449548-55449549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs74736545	chr10:55449571-55449572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs78263924	chr10:55449579-55449580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188448355	chr10:55449585-55449586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181089489	chr10:55449591-55449592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs75199916	chr10:55449595-55449596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs78968150	chr10:55449625-55449626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77382898	chr10:55449627-55449628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78895619	chr10:55449659-55449660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75704868	chr10:55449672-55449673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184034051	chr10:55449683-55449684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190075790	chr10:55449710-55449711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200209084	chr10:55449735-55449736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs397847174	chr10:55449736-55449737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs398013486	chr10:55449747-55449748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149665562	chr10:55449766-55449767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79452938	chr10:55449767-55449768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550691692	chr10:55449774-55449775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368480730	chr10:55449776-55449777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536327162	chr10:55449814-55449815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372210735	chr10:55449910-55449911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553566190	chr10:55449911-55449912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573443935	chr10:55449933-55449934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539365182	chr10:55449982-55449983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559249568	chr10:55450012-55450013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs557111911	chr10:55450021-55450022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575323510	chr10:55450053-55450054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs544234633	chr10:55450062-55450063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs372565323	chr10:55450119-55450120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs181727897	chr10:55450200-55450201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs1686680	chr10:55450204-55450205	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:69)

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
Developmental delay	21948486	CNVD
Intellectual disability	21948486	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
Colorectal cancer	16774939	CNVD
Autism	20858243	CNVD
Melanoma	17363583	CNVD
Breast cancer	22522925	CNVD
Usher type I cohort	17277737	CNVD
Usher type I cohort	21436283	CNVD
Leukemia	21357790	CNVD
Medulloblastoma	22832581	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:55449200-55449600	Enhancers	Right Atrium	heart
2	chr10:55449400-55454200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr10:55449600-55450000	Weak transcription	Right Atrium	heart
4	chr10:55450000-55450600	Enhancers	Right Atrium	heart
5	chr10:55450200-55450600	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr10:55450200-55451000	Enhancers	Fetal Heart	heart
7	chr10:55454200-55454400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr10:55454200-55454400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr10:55454400-55454600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr10:55460000-55460400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr10:55461200-55461400	Enhancers	Fetal Heart	heart
12	chr10:55461400-55462600	Weak transcription	Fetal Heart	heart
13	chr10:55462600-55463400	Enhancers	Fetal Heart	heart
14	chr10:55463400-55468000	Weak transcription	Fetal Heart	heart
15	chr10:55468000-55469000	Enhancers	Fetal Heart	heart
16	chr10:55468200-55468800	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr10:55468200-55469000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr10:55468400-55469000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr10:55486400-55486800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr10:55486400-55486800	ZNF genes & repeats	Pancreas	Pancrea
21	chr10:55486600-55488600	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr10:55487400-55488400	Enhancers	Placenta Amnion	Placenta Amnion
23	chr10:55488400-55491800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr10:55491800-55492800	Enhancers	Placenta Amnion	Placenta Amnion
25	chr10:55491800-55493000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr10:55498200-55499000	Enhancers	Fetal Intestine Small	intestine
27	chr10:55504200-55504400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr10:55504400-55504800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr10:55504400-55504800	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr10:55504400-55504800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr10:55504400-55505000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr10:55504400-55505200	Enhancers	H1 Cell Line	embryonic stem cell
33	chr10:55504400-55505200	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr10:55504400-55505200	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr10:55505000-55505200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr10:55505200-55508000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr10:55508000-55509400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
38	chr10:55514200-55515000	Active TSS	Fetal Lung	lung
39	chr10:55514400-55514800	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr10:55514400-55514800	Active TSS	Fetal Stomach	stomach
41	chr10:55514400-55514800	Active TSS	Right Atrium	heart
42	chr10:55514800-55515800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr10:55515000-55515600	Enhancers	Fetal Lung	lung
44	chr10:55515800-55516000	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr10:55521000-55521400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr10:55522400-55523200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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