Variant report

Variant	nsv818763
Chromosome Location	chr10:56239430-56273600
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	chr10:56255412-56255696	A549	lung:	n/a	chr10:56255576-56255587
2	CEBPB	chr10:56255402-56255747	HepG2	liver:	n/a	chr10:56255576-56255587
3	CTCF	chr10:56245983-56245998	Spleen_OC	spleen:	n/a	n/a
4	E2F4	chr10:56271686-56271852	MCF10A-Er-Src	breast:	n/a	n/a
5	EBF1	chr10:56268927-56269162	GM12878	blood:	n/a	chr10:56269070-56269081
6	EBF1	chr10:56243914-56244319	GM12878	blood:	n/a	chr10:56244093-56244103 chr10:56244093-56244102
7	ELK1	chr10:56243977-56243990	GM12878	blood:	n/a	n/a
8	EP300	chr10:56251301-56251319	Hela-S3	cervix:	n/a	n/a
9	GATA3	chr10:56261680-56262139	MCF-7	breast:	n/a	n/a
10	GATA3	chr10:56251982-56252054	SH-SY5Y	brain:	n/a	n/a
11	JUN	chr10:56254353-56254502	K562	blood:	n/a	n/a
12	MAFK	chr10:56247535-56247784	Hela-S3	cervix:	n/a	chr10:56247675-56247686 chr10:56247674-56247689 chr10:56247675-56247686
13	MAFK	chr10:56247545-56247825	IMR90	lung:	n/a	chr10:56247675-56247686 chr10:56247674-56247689 chr10:56247675-56247686
14	MAFK	chr10:56247516-56247828	HepG2	liver:	n/a	chr10:56247675-56247686 chr10:56247674-56247689 chr10:56247675-56247686
15	MAFK	chr10:56247569-56247774	K562	blood:	n/a	chr10:56247675-56247686 chr10:56247674-56247689 chr10:56247675-56247686
16	MAFK	chr10:56247544-56247782	HepG2	liver:	n/a	chr10:56247675-56247686 chr10:56247674-56247689 chr10:56247675-56247686
17	MYC	chr10:56250759-56250801	K562	blood:	n/a	n/a
18	POLR2A	chr10:56252783-56252839	GM12878	blood:	n/a	n/a
19	POLR2A	chr10:56267036-56267313	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr10:56263776-56263887	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr10:56256869-56256894	A549	lung:	n/a	n/a
22	SPI1	chr10:56258568-56258869	HL-60	blood:	n/a	n/a
23	STAT3	chr10:56266752-56267061	MCF10A-Er-Src	breast:	n/a	n/a
24	WRNIP1	chr10:56269202-56269456	GM12878	blood:	n/a	n/a
25	ZNF143	chr10:56246572-56246893	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:56255140..56257501-chr10:56263291..56266087,2	K562	blood:
2	chr10:56255140..56257501-chr10:56263291..56266087,2	K562	blood:
3	chr10:56242648..56244262-chr10:56246298..56248916,2	MCF-7	breast:
4	chr10:56242648..56244262-chr10:56246298..56248916,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MTRNR2L5-4	chr10:56245990-56246076	NONHSAT013457
2	lnc-MTRNR2L5-4	chr10:56245990-56246076	ENSG00000234173.1

Variant related genes	Relation type
ENSG00000234173	TF binding region

Extended variants
information (count: 114 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4375355	chr10:56240052-56240053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs377130114	chr10:56240064-56240065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545274186	chr10:56240077-56240078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1342307	chr10:56240104-56240105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530637341	chr10:56240123-56240124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544357523	chr10:56240127-56240128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560940525	chr10:56240169-56240170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182530979	chr10:56240174-56240175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs74136156	chr10:56243620-56243621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188664894	chr10:56243629-56243630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534610177	chr10:56243640-56243641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558125479	chr10:56243646-56243647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146859249	chr10:56243647-56243648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537246494	chr10:56243679-56243680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557167471	chr10:56243722-56243723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116854601	chr10:56243747-56243748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541995514	chr10:56243834-56243835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562192281	chr10:56243862-56243863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564948227	chr10:56243870-56243871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73255957	chr10:56243907-56243908	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs577731834	chr10:56243939-56243940	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs564446033	chr10:56243949-56243950	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs373739231	chr10:56243978-56243979	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs181479554	chr10:56244032-56244033	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs552453883	chr10:56244045-56244046	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs549984463	chr10:56244050-56244051	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs376655856	chr10:56244051-56244052	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs2104891	chr10:56244067-56244068	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs112670573	chr10:56244090-56244091	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs186018036	chr10:56244097-56244098	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs375624334	chr10:56244112-56244113	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs565759753	chr10:56244180-56244181	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs529935326	chr10:56244189-56244190	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs12771238	chr10:56244223-56244224	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs140547696	chr10:56244268-56244269	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs150489783	chr10:56244276-56244277	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs12243412	chr10:56244288-56244289	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs537311233	chr10:56244331-56244332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs972789	chr10:56244398-56244399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138280543	chr10:56244401-56244402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537165005	chr10:56244418-56244419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111599206	chr10:56244445-56244446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149211649	chr10:56244451-56244452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113740008	chr10:56244496-56244497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572459539	chr10:56244499-56244500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539960077	chr10:56244542-56244543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11004334	chr10:56244581-56244582	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs372841271	chr10:56244604-56244605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559768076	chr10:56244612-56244613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557641683	chr10:56244627-56244628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Breast cancer	22522925	CNVD
Usher type I cohort	17277737	CNVD
Usher type I cohort	21436283	CNVD
Leukemia	21357790	CNVD
Medulloblastoma	22832581	CNVD
Melanoma	17363583	CNVD
Bipolar disorder	19114987	CNVD
Cancer	20164919	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:56240000-56240200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr10:56243600-56244200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr10:56244200-56245400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr10:56245800-56246000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr10:56256600-56257000	Enhancers	Spleen	Spleen
6	chr10:56262000-56262400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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