Variant report

Variant	nsv825200
Chromosome Location	chr9:140762298-140767627
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr9:140767543-140767765	K562	blood:	n/a	chr9:140767634-140767647
2	EP300	chr9:140763682-140763810	K562	blood:	n/a	n/a
3	GATA3	chr9:140763727-140764118	SH-SY5Y	brain:	n/a	n/a
4	MAFK	chr9:140762894-140763010	HepG2	liver:	n/a	n/a
5	POLR2A	chr9:140763402-140763546	MCF-7	breast:	n/a	n/a
6	POLR2A	chr9:140766900-140766923	MCF-7	breast:	n/a	n/a
7	REST	chr9:140766923-140767200	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:140763820..140766702-chr9:140806866..140808617,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL772363.1-1	chr9:140762365-140762689	XLOC_007904
2	lnc-AL772363.1-1	chr9:140767517-140767710	XLOC_007904
3	lnc-AL772363.1-1	chr9:140762379-140762689	ENSG00000203987.2
4	lnc-AL772363.1-1	chr9:140767616-140767710	XLOC_007904
5	lnc-AL772363.1-1	chr9:140762377-140762689	ENSG00000203987.2

No data

Variant related genes	Relation type
CACNA1B	TF binding region
ACIN1	miRNA target sites

Extended variants
information (count: 238 )
Associated
traits (count: 19 )

Variant overlapped rSNPs/rCNVs (count:238 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542330570	chr9:140762298-140762299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs186011179	chr9:140762316-140762317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528106945	chr9:140762335-140762336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs200824744	chr9:140762355-140762356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551346063	chr9:140762426-140762427	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs146051419	chr9:140762445-140762446	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs530837293	chr9:140762488-140762489	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs148711320	chr9:140762520-140762521	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs567482209	chr9:140762538-140762539	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs536422567	chr9:140762544-140762545	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs9410068	chr9:140762587-140762588	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs142726326	chr9:140762644-140762645	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs9314641	chr9:140762652-140762653	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs34919597	chr9:140762653-140762654	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs112497389	chr9:140762689-140762690	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs111610571	chr9:140762840-140762841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538540042	chr9:140762889-140762890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190861424	chr9:140762925-140762926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574715476	chr9:140763015-140763016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540406820	chr9:140763017-140763018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573063392	chr9:140763023-140763024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs80186139	chr9:140763066-140763067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183372920	chr9:140763091-140763092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572890167	chr9:140763099-140763100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571311878	chr9:140763108-140763109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76808840	chr9:140763112-140763113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs367645442	chr9:140763126-140763127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188075452	chr9:140763130-140763131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561142577	chr9:140763143-140763144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563821600	chr9:140763144-140763145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs151007263	chr9:140763178-140763179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191000480	chr9:140763187-140763188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567020053	chr9:140763200-140763201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9410159	chr9:140763253-140763254	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs552349163	chr9:140763258-140763259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76928000	chr9:140763260-140763261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76866931	chr9:140763282-140763283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183148416	chr9:140763283-140763284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112683158	chr9:140763303-140763304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574781178	chr9:140763348-140763349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534169024	chr9:140763397-140763398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553947683	chr9:140763460-140763461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577325246	chr9:140763461-140763462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140853887	chr9:140763485-140763486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370227930	chr9:140763495-140763496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188576203	chr9:140763496-140763497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558338796	chr9:140763503-140763504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200749487	chr9:140763568-140763569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138000125	chr9:140763569-140763570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs55751227	chr9:140763570-140763571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:19)

Disease	PMID	Source
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Cardiac fibroma	18329553	CNVD
Lung cancer	19147751	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chordoma	18071362	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Sudden cardiac death	19188705	CNVD
Myoepithelioma	18604193	CNVD
Tuberous sclerosis	19566914	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Mantle cell lymphoma	19029149	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:140759800-140762400	Enhancers	GM12878-XiMat	blood
2	chr9:140761800-140767800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:140766800-140767000	Bivalent Enhancer	K562	blood

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