Variant report

Variant	nsv968754
Chromosome Location	chr9:141121627-141148090
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	BATF	chr9:141128400-141128680	GM12878	blood:	n/a	n/a
2	BATF	chr9:141128455-141128723	GM12878	blood:	n/a	n/a
3	BATF	chr9:141121304-141121639	GM12878	blood:	n/a	n/a
4	BCL11A	chr9:141121234-141121658	GM12878	blood:	n/a	n/a
5	BCL11A	chr9:141126990-141127300	GM12878	blood:	n/a	n/a
6	BCL11A	chr9:141128443-141128816	GM12878	blood:	n/a	n/a
7	BCL11A	chr9:141122785-141122963	GM12878	blood:	n/a	n/a
8	BCL11A	chr9:141129767-141129926	GM12878	blood:	n/a	n/a
9	BCL11A	chr9:141128328-141128725	GM12878	blood:	n/a	n/a
10	CBX3	chr9:141128381-141128955	K562	blood:	n/a	n/a
11	CEBPD	chr9:141122140-141123758	K562	blood:	n/a	n/a
12	CTCF	chr9:141123226-141123297	GM13976	blood:	n/a	n/a
13	CTCF	chr9:141121063-141121722	K562	blood:	n/a	n/a
14	CTCF	chr9:141120871-141121901	A549	lung:	n/a	n/a
15	CTCF	chr9:141120911-141121852	A549	lung:	n/a	n/a
16	CTCF	chr9:141121026-141121738	A549	lung:	n/a	n/a
17	CTCF	chr9:141121089-141121719	K562	blood:	n/a	n/a
18	CTCF	chr9:141122821-141123051	K562	blood:	n/a	n/a
19	CTCF	chr9:141120756-141121930	A549	lung:	n/a	n/a
20	CTCF	chr9:141121072-141121830	K562	blood:	n/a	n/a
21	EBF1	chr9:141122827-141123046	GM12878	blood:	n/a	n/a
22	EBF1	chr9:141121227-141121645	GM12878	blood:	n/a	n/a
23	EP300	chr9:141121171-141121659	GM12878	blood:	n/a	chr9:141121588-141121601
24	EP300	chr9:141127882-141128159	GM12878	blood:	n/a	chr9:141128093-141128103
25	EP300	chr9:141128428-141128956	GM12878	blood:	n/a	chr9:141128637-141128644
26	FOSL2	chr9:141127004-141127377	HepG2	liver:	n/a	n/a
27	FOSL2	chr9:141126918-141127374	HepG2	liver:	n/a	n/a
28	FOSL2	chr9:141129725-141129993	HepG2	liver:	n/a	n/a
29	FOSL2	chr9:141124017-141124399	HepG2	liver:	n/a	n/a
30	FOSL2	chr9:141128921-141129225	HepG2	liver:	n/a	n/a
31	FOSL2	chr9:141128306-141128885	HepG2	liver:	n/a	chr9:141128599-141128610 chr9:141128601-141128610 chr9:141128605-141128612 chr9:141128600-141128611
32	FOSL2	chr9:141121178-141121698	HepG2	liver:	n/a	chr9:141121627-141121639
33	FOSL2	chr9:141122749-141123143	HepG2	liver:	n/a	n/a
34	FOSL2	chr9:141127916-141129308	HepG2	liver:	n/a	chr9:141128599-141128610 chr9:141128601-141128610 chr9:141128605-141128612 chr9:141128600-141128611
35	FOXA1	chr9:141123803-141124598	HepG2	liver:	n/a	n/a
36	FOXA1	chr9:141127724-141128385	HepG2	liver:	n/a	n/a
37	FOXA1	chr9:141146161-141146646	HepG2	liver:	n/a	n/a
38	FOXA1	chr9:141139606-141140027	HepG2	liver:	n/a	n/a
39	FOXA1	chr9:141129703-141129991	HepG2	liver:	n/a	n/a
40	FOXA1	chr9:141121124-141121641	HepG2	liver:	n/a	n/a
41	FOXA2	chr9:141121260-141121648	A549	lung:	n/a	n/a
42	FOXA2	chr9:141127860-141128200	A549	lung:	n/a	n/a
43	FOXM1	chr9:141121217-141121671	GM12878	blood:	n/a	n/a
44	GABPA	chr9:141127027-141127294	Hela-S3	cervix:	n/a	n/a
45	GABPA	chr9:141122824-141123078	Hela-S3	cervix:	n/a	n/a
46	GABPA	chr9:141128650-141128774	Hela-S3	cervix:	n/a	n/a
47	GABPA	chr9:141135036-141135270	Hela-S3	cervix:	n/a	n/a
48	GABPA	chr9:141123191-141123335	Hela-S3	cervix:	n/a	n/a
49	GABPA	chr9:141128437-141128996	Hela-S3	cervix:	n/a	n/a
50	GABPA	chr9:141125981-141126119	Hela-S3	cervix:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CACNA1B-1	chr9:141141988-141142607	XLOC_007621
2	lnc-CACNA1B-1	chr9:141139721-141139830	XLOC_007621

Variant related genes	Relation type
RNU6-785P	TF binding region

Extended variants
information (count: 114 )
Associated
traits (count: 19 )

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	rs4410858	chr9:141121662-141121663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs28657822	chr9:141121760-141121761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs28677826	chr9:141121788-141121789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs62581264	chr9:141121831-141121832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs62429375	chr9:141121841-141121842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs62581266	chr9:141121889-141121890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373163166	chr9:141121897-141121898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376647291	chr9:141121960-141121961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537684015	chr9:141122012-141122013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557348359	chr9:141122013-141122014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567995407	chr9:141122017-141122018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369908836	chr9:141122020-141122021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs28671602	chr9:141122023-141122024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375670669	chr9:141122025-141122026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370294129	chr9:141122030-141122031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs28413101	chr9:141122072-141122073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373227967	chr9:141122075-141122076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12380504	chr9:141122153-141122154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12379626	chr9:141122162-141122163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs28561392	chr9:141122182-141122183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376543486	chr9:141122271-141122272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4335077	chr9:141122327-141122328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs4916937	chr9:141122334-141122335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12379643	chr9:141122336-141122337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12378590	chr9:141122346-141122347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs62581271	chr9:141122390-141122391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12380209	chr9:141122397-141122398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62581273	chr9:141122453-141122454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62581274	chr9:141122462-141122463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62581275	chr9:141122463-141122464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs62428745	chr9:141122467-141122468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62428759	chr9:141122490-141122491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs62581278	chr9:141122497-141122498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536233379	chr9:141122506-141122507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374345149	chr9:141122523-141122524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12380221	chr9:141122527-141122528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs62428756	chr9:141122553-141122554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200320367	chr9:141122575-141122576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs62428757	chr9:141122583-141122584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552906432	chr9:141122586-141122587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377671646	chr9:141122635-141122636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201977090	chr9:141122641-141122642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200384955	chr9:141122646-141122647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62581280	chr9:141122651-141122652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201457637	chr9:141122656-141122657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376299797	chr9:141122661-141122662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs367676274	chr9:141122694-141122695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371409022	chr9:141122698-141122699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs62428743	chr9:141122701-141122702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62581283	chr9:141122709-141122710	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:141119400-141123400	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr9:141122200-141124800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr9:141122400-141124800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr9:141123400-141123800	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr9:141123800-141126000	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr9:141127600-141128000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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