Variant report

Variant	nsv550958
Chromosome Location	chr10:56236731-56271258
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	chr10:56237523-56237874	HepG2	liver:	n/a	chr10:56237702-56237713 chr10:56237703-56237712 chr10:56237703-56237712 chr10:56237701-56237714 chr10:56237703-56237712
2	CEBPB	chr10:56237599-56237861	ECC-1	luminal epithelium:	n/a	chr10:56237702-56237713 chr10:56237703-56237712 chr10:56237703-56237712 chr10:56237701-56237714 chr10:56237703-56237712
3	CEBPB	chr10:56237551-56237863	Hela-S3	cervix:	n/a	chr10:56237702-56237713 chr10:56237703-56237712 chr10:56237703-56237712 chr10:56237701-56237714 chr10:56237703-56237712
4	CEBPB	chr10:56255402-56255747	HepG2	liver:	n/a	chr10:56255576-56255587
5	CEBPB	chr10:56237521-56237900	H1-hESC	embryonic stem cell:	n/a	chr10:56237702-56237713 chr10:56237703-56237712 chr10:56237703-56237712 chr10:56237701-56237714 chr10:56237703-56237712
6	CEBPB	chr10:56255412-56255696	A549	lung:	n/a	chr10:56255576-56255587
7	CEBPB	chr10:56237556-56237775	A549	lung:	n/a	chr10:56237702-56237713 chr10:56237703-56237712 chr10:56237703-56237712 chr10:56237701-56237714 chr10:56237703-56237712
8	CEBPB	chr10:56237518-56237880	K562	blood:	n/a	chr10:56237702-56237713 chr10:56237703-56237712 chr10:56237703-56237712 chr10:56237701-56237714 chr10:56237703-56237712
9	CEBPB	chr10:56237520-56237876	IMR90	lung:	n/a	chr10:56237702-56237713 chr10:56237703-56237712 chr10:56237703-56237712 chr10:56237701-56237714 chr10:56237703-56237712
10	CTCF	chr10:56245983-56245998	Spleen_OC	spleen:	n/a	n/a
11	EBF1	chr10:56268927-56269162	GM12878	blood:	n/a	chr10:56269070-56269081
12	EBF1	chr10:56243914-56244319	GM12878	blood:	n/a	chr10:56244093-56244103 chr10:56244093-56244102
13	ELK1	chr10:56243977-56243990	GM12878	blood:	n/a	n/a
14	EP300	chr10:56251301-56251319	Hela-S3	cervix:	n/a	n/a
15	GATA3	chr10:56251982-56252054	SH-SY5Y	brain:	n/a	n/a
16	GATA3	chr10:56261680-56262139	MCF-7	breast:	n/a	n/a
17	JUN	chr10:56254353-56254502	K562	blood:	n/a	n/a
18	MAFK	chr10:56247544-56247782	HepG2	liver:	n/a	chr10:56247675-56247686 chr10:56247674-56247689 chr10:56247675-56247686
19	MAFK	chr10:56247516-56247828	HepG2	liver:	n/a	chr10:56247675-56247686 chr10:56247674-56247689 chr10:56247675-56247686
20	MAFK	chr10:56247535-56247784	Hela-S3	cervix:	n/a	chr10:56247675-56247686 chr10:56247674-56247689 chr10:56247675-56247686
21	MAFK	chr10:56247545-56247825	IMR90	lung:	n/a	chr10:56247675-56247686 chr10:56247674-56247689 chr10:56247675-56247686
22	MAFK	chr10:56247569-56247774	K562	blood:	n/a	chr10:56247675-56247686 chr10:56247674-56247689 chr10:56247675-56247686
23	MYC	chr10:56250759-56250801	K562	blood:	n/a	n/a
24	POLR2A	chr10:56252783-56252839	GM12878	blood:	n/a	n/a
25	POLR2A	chr10:56237918-56237950	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr10:56256869-56256894	A549	lung:	n/a	n/a
27	POLR2A	chr10:56267036-56267313	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr10:56263776-56263887	MCF10A-Er-Src	breast:	n/a	n/a
29	SPI1	chr10:56258568-56258869	HL-60	blood:	n/a	n/a
30	STAT3	chr10:56266752-56267061	MCF10A-Er-Src	breast:	n/a	n/a
31	WRNIP1	chr10:56269202-56269456	GM12878	blood:	n/a	n/a
32	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	chr10:56242648..56244262-chr10:56246298..56248916,2	MCF-7	breast:
3	chr10:56255140..56257501-chr10:56263291..56266087,2	K562	blood:
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: 184 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:184 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12221407	chr10:56236731-56236732	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183102237	chr10:56236736-56236737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571053471	chr10:56236763-56236764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540064114	chr10:56236816-56236817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs57744288	chr10:56236839-56236840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs377159422	chr10:56236845-56236846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556297673	chr10:56236884-56236885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575734946	chr10:56236915-56236916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535146888	chr10:56236921-56236922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77137582	chr10:56236971-56236972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376135928	chr10:56237038-56237039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555710978	chr10:56237095-56237096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571741366	chr10:56237122-56237123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs374420421	chr10:56237128-56237129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540644823	chr10:56237193-56237194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs76899766	chr10:56237214-56237215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs16906167	chr10:56237320-56237321	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs150825002	chr10:56237337-56237338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12261810	chr10:56237438-56237439	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs531859771	chr10:56237439-56237440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542376949	chr10:56237442-56237443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562144214	chr10:56237460-56237461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs11004330	chr10:56237467-56237468	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs547465699	chr10:56237506-56237507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138119237	chr10:56237512-56237513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187824401	chr10:56237513-56237514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs549982830	chr10:56237536-56237537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191177223	chr10:56237549-56237550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535634422	chr10:56237598-56237599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555069612	chr10:56237606-56237607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs149598487	chr10:56237613-56237614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs11004331	chr10:56237639-56237640	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs373445512	chr10:56237653-56237654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144283231	chr10:56237707-56237708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs140544272	chr10:56237734-56237735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577893498	chr10:56237820-56237821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543318931	chr10:56237826-56237827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557277625	chr10:56237858-56237859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573911113	chr10:56237859-56237860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113131262	chr10:56237960-56237961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562203610	chr10:56237973-56237974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376983736	chr10:56237977-56237978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575594116	chr10:56238008-56238009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182953422	chr10:56238024-56238025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541419110	chr10:56238084-56238085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368589217	chr10:56238101-56238102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564294316	chr10:56238125-56238126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187911113	chr10:56238230-56238231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192987495	chr10:56238255-56238256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73255951	chr10:56238257-56238258	Enhancers 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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:56234400-56237200	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr10:56234400-56237800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr10:56234400-56238200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr10:56234600-56238400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr10:56234800-56237800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr10:56236600-56238800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr10:56237200-56238800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr10:56237800-56238800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr10:56237800-56238800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr10:56238200-56238400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr10:56238200-56238600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr10:56238200-56238800	Enhancers	Brain Germinal Matrix	brain
13	chr10:56238400-56238600	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr10:56238400-56238800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr10:56240000-56240200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr10:56243600-56244200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr10:56244200-56245400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr10:56245800-56246000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr10:56256600-56257000	Enhancers	Spleen	Spleen
20	chr10:56262000-56262400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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