Variant report

Variant	nsv467223
Chromosome Location	chr10:56245351-56262826
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	EP300	chr10:56251301-56251319	Hela-S3	cervix:	n/a	n/a
5	GATA3	chr10:56251982-56252054	SH-SY5Y	brain:	n/a	n/a
6	GATA3	chr10:56261680-56262139	MCF-7	breast:	n/a	n/a
7	JUN	chr10:56254353-56254502	K562	blood:	n/a	n/a
8	MAFK	chr10:56247544-56247782	HepG2	liver:	n/a	chr10:56247675-56247686 chr10:56247674-56247689 chr10:56247675-56247686
9	MAFK	chr10:56247535-56247784	Hela-S3	cervix:	n/a	chr10:56247675-56247686 chr10:56247674-56247689 chr10:56247675-56247686
10	MAFK	chr10:56247569-56247774	K562	blood:	n/a	chr10:56247675-56247686 chr10:56247674-56247689 chr10:56247675-56247686
11	MAFK	chr10:56247516-56247828	HepG2	liver:	n/a	chr10:56247675-56247686 chr10:56247674-56247689 chr10:56247675-56247686
12	MAFK	chr10:56247545-56247825	IMR90	lung:	n/a	chr10:56247675-56247686 chr10:56247674-56247689 chr10:56247675-56247686
13	MYC	chr10:56250759-56250801	K562	blood:	n/a	n/a
14	POLR2A	chr10:56252783-56252839	GM12878	blood:	n/a	n/a
15	POLR2A	chr10:56256869-56256894	A549	lung:	n/a	n/a
16	SPI1	chr10:56258568-56258869	HL-60	blood:	n/a	n/a
17	ZNF143	chr10:56246572-56246893	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:56255140..56257501-chr10:56263291..56266087,2	K562	blood:
2	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: 42 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16906192	chr10:56245351-56245352	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs377668852	chr10:56245368-56245369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577642936	chr10:56245388-56245389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529970408	chr10:56245833-56245834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536526123	chr10:56245857-56245858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546493408	chr10:56246010-56246011	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs558587897	chr10:56246055-56246056	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs539948353	chr10:56256626-56256627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142619354	chr10:56256642-56256643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576066977	chr10:56256646-56256647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535414695	chr10:56256647-56256648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs370957486	chr10:56256654-56256655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182799968	chr10:56256656-56256657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143878285	chr10:56256672-56256673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12782404	chr10:56256682-56256683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12784628	chr10:56256687-56256688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12784650	chr10:56256725-56256726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541244227	chr10:56256727-56256728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187443537	chr10:56256734-56256735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs578095915	chr10:56256770-56256771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543551323	chr10:56256773-56256774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369501884	chr10:56256777-56256778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528906315	chr10:56256834-56256835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192734715	chr10:56256869-56256870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559699824	chr10:56256902-56256903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs66665873	chr10:56256977-56256978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147512407	chr10:56262012-56262013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192452709	chr10:56262092-56262093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553853489	chr10:56262093-56262094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs140073000	chr10:56262140-56262141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1930143	chr10:56262173-56262174	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs554857553	chr10:56262179-56262180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs180831668	chr10:56262245-56262246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs12255357	chr10:56262246-56262247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542100264	chr10:56262269-56262270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs76416024	chr10:56262275-56262276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572542496	chr10:56262277-56262278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs11004341	chr10:56262280-56262281	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs540445505	chr10:56262296-56262297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370193908	chr10:56262310-56262311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs142999811	chr10:56262374-56262375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs150686616	chr10:56262392-56262393	Enhancers	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:4 , 50 per page) page: 1

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

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