Variant report

Variant	nsv964929
Chromosome Location	chr5:117103765-117116748
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:117105540-117105630	GM13976	blood:	n/a	n/a
2	CTCF	chr5:117109043-117109065	MCF-7	breast:	n/a	n/a
3	EP300	chr5:117112787-117112865	GM12878	blood:	n/a	n/a
4	FOSL2	chr5:117108967-117109179	HepG2	liver:	n/a	n/a
5	GATA2	chr5:117105813-117106205	SH-SY5Y	brain:	n/a	n/a
6	GATA3	chr5:117105942-117106087	SH-SY5Y	brain:	n/a	n/a
7	GATA3	chr5:117105875-117106088	T-47D	breast:	n/a	n/a
8	MYC	chr5:117109028-117109088	MCF-7	breast:	n/a	n/a
9	MYC	chr5:117105418-117105467	H1-hESC	embryonic stem cell:	n/a	n/a
10	MYC	chr5:117109150-117109157	MCF-7	breast:	n/a	n/a
11	MYC	chr5:117109172-117109247	MCF-7	breast:	n/a	n/a
12	POLR2A	chr5:117109056-117109095	K562	blood:	n/a	n/a
13	POLR2A	chr5:117109256-117109412	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr5:117116688-117116742	ProgFib	skin:	n/a	n/a
15	POLR2A	chr5:117109009-117109131	ProgFib	skin:	n/a	n/a
16	POLR2A	chr5:117113236-117113241	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr5:117108926-117109266	MCF-7	breast:	n/a	n/a
18	POLR2A	chr5:117105617-117105623	MCF-7	breast:	n/a	n/a
19	POLR2A	chr5:117108959-117108993	ProgFib	skin:	n/a	n/a
20	POLR2A	chr5:117108993-117109120	MCF-7	breast:	n/a	n/a
21	POLR2A	chr5:117108833-117109425	MCF-7	breast:	n/a	n/a
22	POLR2A	chr5:117109176-117109329	K562	blood:	n/a	n/a
23	POLR2A	chr5:117105504-117105518	MCF-7	breast:	n/a	n/a
24	RUNX3	chr5:117112678-117113090	GM12878	blood:	n/a	n/a
25	RUNX3	chr5:117112586-117113109	GM12878	blood:	n/a	n/a
26	ZNF263	chr5:117108861-117109347	HEK293-T-REx	kidney:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DTWD2-12	chr5:117114521-117115227	NONHSAT103390

No data

Variant related genes	Relation type
RPL7L1P4	TF binding region

Extended variants
information (count: 505 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:505 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35394146	chr5:117103807-117103808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138842797	chr5:117103820-117103821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113673960	chr5:117103841-117103842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576181752	chr5:117103864-117103865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571896632	chr5:117103886-117103887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575729124	chr5:117103887-117103888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189961149	chr5:117103890-117103891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191177243	chr5:117103904-117103905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567813167	chr5:117103937-117103938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536753226	chr5:117103942-117103943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183675241	chr5:117103970-117103971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189179191	chr5:117103990-117103991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544526890	chr5:117104008-117104009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558929494	chr5:117104024-117104025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369530892	chr5:117104038-117104039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539011163	chr5:117104061-117104062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562980494	chr5:117104083-117104084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574874623	chr5:117104106-117104107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs62380340	chr5:117104117-117104118	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs181895452	chr5:117104140-117104141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574727134	chr5:117104204-117104205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573470099	chr5:117104219-117104220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542338564	chr5:117104267-117104268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532606938	chr5:117104338-117104339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs62380341	chr5:117104364-117104365	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs11952938	chr5:117104401-117104402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565488695	chr5:117104419-117104420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542684997	chr5:117104425-117104426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560293194	chr5:117104429-117104430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116047524	chr5:117104446-117104447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145676926	chr5:117104503-117104504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138233433	chr5:117104511-117104512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115612341	chr5:117104537-117104538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144394187	chr5:117104538-117104539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570149003	chr5:117104542-117104543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115144927	chr5:117104551-117104552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148797037	chr5:117104616-117104617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565886475	chr5:117104622-117104623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141539743	chr5:117104671-117104672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150871642	chr5:117104685-117104686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573530782	chr5:117104741-117104742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114505494	chr5:117104755-117104756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559690109	chr5:117104781-117104782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78017724	chr5:117104789-117104790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186417801	chr5:117104790-117104791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548583592	chr5:117104823-117104824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73272928	chr5:117104833-117104834	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs189915098	chr5:117104837-117104838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564907339	chr5:117104866-117104867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570093798	chr5:117104922-117104923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	21509527	CNVD
Autism	22543975	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117098800-117105000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:117103000-117105600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:117105600-117105800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:117105800-117114800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:117113800-117114200	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast

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