Variant report

Variant	esv1824167
Chromosome Location	chr10:55454152-55522899
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	chr10:55495022-55495339	HepG2	liver:	n/a	n/a
3	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
4	CEBPB	chr10:55495099-55495137	K562	blood:	n/a	n/a
5	CEBPB	chr10:55484473-55484797	IMR90	lung:	n/a	chr10:55484642-55484651 chr10:55484640-55484651 chr10:55484642-55484653 chr10:55484640-55484653
6	CEBPB	chr10:55456808-55457116	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr10:55495107-55495314	A549	lung:	n/a	n/a
8	CEBPB	chr10:55494993-55495303	IMR90	lung:	n/a	n/a
9	CEBPB	chr10:55484474-55484818	HepG2	liver:	n/a	chr10:55484642-55484651 chr10:55484640-55484651 chr10:55484642-55484653 chr10:55484640-55484653
10	CEBPB	chr10:55484526-55484810	A549	lung:	n/a	chr10:55484642-55484651 chr10:55484640-55484651 chr10:55484642-55484653 chr10:55484640-55484653
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	chr10:55495240-55495390	Caco-2	colon:	n/a	n/a
14	CTCF	chr10:55505454-55505474	GM13976	blood:	n/a	n/a
15	CTCF	chr10:55505420-55505570	HEK293	kidney:	n/a	n/a
16	CTCF	chr10:55489186-55489262	GM10266	blood:	n/a	n/a
17	CUX1	chr10:55468897-55469062	GM12878	blood:	n/a	n/a
18	E2F4	chr10:55499586-55499784	MCF10A-Er-Src	breast:	n/a	n/a
19	EP300	chr10:55459418-55459857	SK-N-SH_RA	brain:	n/a	n/a
20	EP300	chr10:55460942-55461538	SK-N-SH_RA	brain:	n/a	chr10:55461132-55461141 chr10:55461131-55461140
21	EP300	chr10:55458801-55461793	SK-N-SH	brain:	n/a	chr10:55461132-55461141 chr10:55461131-55461140 chr10:55461688-55461702
22	EP300	chr10:55459301-55459901	SK-N-SH_RA	brain:	n/a	n/a
23	ESR1	chr10:55462314-55462532	ECC-1	luminal epithelium:	n/a	chr10:55462421-55462438
24	FOS	chr10:55456749-55457153	MCF10A-Er-Src	breast:	n/a	chr10:55456961-55456970 chr10:55456961-55456971 chr10:55456960-55456971 chr10:55456963-55456970
25	FOS	chr10:55456783-55457132	MCF10A-Er-Src	breast:	n/a	chr10:55456961-55456970 chr10:55456961-55456971 chr10:55456960-55456971 chr10:55456963-55456970
26	FOS	chr10:55456776-55457150	MCF10A-Er-Src	breast:	n/a	chr10:55456961-55456970 chr10:55456961-55456971 chr10:55456960-55456971 chr10:55456963-55456970
27	FOS	chr10:55456774-55457124	MCF10A-Er-Src	breast:	n/a	chr10:55456961-55456970 chr10:55456961-55456971 chr10:55456960-55456971 chr10:55456963-55456970
28	GATA2	chr10:55459306-55459941	SH-SY5Y	brain:	n/a	n/a
29	GATA3	chr10:55492091-55492279	SH-SY5Y	brain:	n/a	n/a
30	GATA3	chr10:55459251-55459936	SK-N-SH	brain:	n/a	n/a
31	GATA3	chr10:55459188-55460024	SK-N-SH	brain:	n/a	n/a
32	GATA3	chr10:55461147-55461623	SH-SY5Y	brain:	n/a	chr10:55461395-55461407 chr10:55461460-55461473 chr10:55461462-55461470 chr10:55461398-55461405
33	GATA3	chr10:55459250-55460231	SH-SY5Y	brain:	n/a	n/a
34	GATA3	chr10:55515402-55515674	SH-SY5Y	brain:	n/a	n/a
35	GATA3	chr10:55521044-55521244	SH-SY5Y	brain:	n/a	n/a
36	GATA3	chr10:55496980-55497180	SH-SY5Y	brain:	n/a	n/a
37	JUN	chr10:55456801-55457002	HepG2	liver:	n/a	chr10:55456961-55456970 chr10:55456961-55456971 chr10:55456960-55456971 chr10:55456963-55456970 chr10:55456938-55456951
38	JUND	chr10:55478354-55478685	HepG2	liver:	n/a	n/a
39	JUND	chr10:55456835-55457088	HepG2	liver:	n/a	chr10:55456961-55456970 chr10:55456961-55456971 chr10:55456960-55456971 chr10:55456963-55456970 chr10:55456960-55456971
40	KAP1	chr10:55509249-55509524	HEK293	kidney:	n/a	n/a
41	KAP1	chr10:55470129-55470329	K562	blood:	n/a	n/a
42	KAP1	chr10:55456842-55457268	U2OS	brain:	n/a	n/a
43	MAFK	chr10:55476688-55476912	HepG2	liver:	n/a	chr10:55476748-55476759
44	MAFK	chr10:55511924-55512124	HepG2	liver:	n/a	chr10:55512059-55512070 chr10:55512060-55512071 chr10:55512060-55512071
45	MAFK	chr10:55509816-55509849	HepG2	liver:	n/a	n/a
46	MAX	chr10:55462388-55462677	NB4	blood:	n/a	chr10:55462523-55462533
47	MAX	chr10:55462339-55462702	ECC-1	luminal epithelium:	n/a	chr10:55462523-55462533
48	MAZ	chr10:55512915-55513098	HepG2	liver:	n/a	n/a
49	MAZ	chr10:55502463-55502530	HepG2	liver:	n/a	n/a
50	MYC	chr10:55456864-55457090	MCF10A-Er-Src	breast:	n/a	n/a

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

Variant related genes	Relation type
ENSG00000233805	TF binding region

Extended variants
information (count: 1065 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1065 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1776604	chr10:55454152-55454153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548812612	chr10:55454156-55454157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189671954	chr10:55454180-55454181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371649419	chr10:55454224-55454225	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112649861	chr10:55454251-55454252	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537251740	chr10:55454270-55454271	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551630343	chr10:55454291-55454292	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571432534	chr10:55454300-55454301	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537282294	chr10:55454368-55454369	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181074076	chr10:55454373-55454374	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs377015819	chr10:55454374-55454375	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557174561	chr10:55454385-55454386	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577315020	chr10:55454387-55454388	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535886145	chr10:55454420-55454421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372479269	chr10:55454435-55454436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1686678	chr10:55454467-55454468	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs572238172	chr10:55454479-55454480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541114090	chr10:55454509-55454510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559550502	chr10:55454517-55454518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186511533	chr10:55454530-55454531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540159733	chr10:55460004-55460005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571545863	chr10:55460081-55460082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536930965	chr10:55460115-55460116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550162716	chr10:55460148-55460149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553994441	chr10:55460204-55460205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs140011808	chr10:55460241-55460242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs2451318	chr10:55460324-55460325	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs535555101	chr10:55460345-55460346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187343674	chr10:55460389-55460390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs140278018	chr10:55461233-55461234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs17697532	chr10:55461257-55461258	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs544747659	chr10:55461259-55461260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs145589118	chr10:55461292-55461293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs78403885	chr10:55461330-55461331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs138124052	chr10:55461372-55461373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142397839	chr10:55461377-55461378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs560737650	chr10:55461414-55461415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs80305585	chr10:55461429-55461430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549003433	chr10:55461439-55461440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565705227	chr10:55461449-55461450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549542164	chr10:55461482-55461483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374197211	chr10:55461499-55461500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189391001	chr10:55461576-55461577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551539713	chr10:55461606-55461607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571821746	chr10:55461626-55461627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs193040745	chr10:55461639-55461640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549582463	chr10:55461707-55461708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185739829	chr10:55461709-55461710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567987915	chr10:55461710-55461711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536912051	chr10:55461722-55461723	Weak transcription	n/a	n/a	Overlapped CNVs	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:41 , 50 per page) page: 1

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

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