Variant report

Variant	esv3442815
Chromosome Location	chr9:141031131-141035529
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	CTCF	chr9:141031680-141031830	WERI-Rb-1	eye:	n/a	chr9:141031781-141031799 chr9:141031783-141031804
2	CTCF	chr9:141034519-141034553	LNCaP	prostate:	n/a	n/a
3	CTCF	chr9:141034523-141034555	GM10266	blood:	n/a	n/a
4	CTCF	chr9:141031723-141031832	HepG2	liver:	n/a	chr9:141031781-141031799 chr9:141031783-141031804
5	MYC	chr9:141033086-141033100	H1-hESC	embryonic stem cell:	n/a	n/a
6	MYC	chr9:141033136-141033228	H1-hESC	embryonic stem cell:	n/a	n/a
7	PBX3	chr9:141034462-141034597	GM12878	blood:	n/a	n/a
8	PBX3	chr9:141034423-141034721	GM12878	blood:	n/a	n/a
9	POLR2A	chr9:141034844-141035127	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr9:141034058-141034847	GM12892	blood:	n/a	n/a
11	POLR2A	chr9:141031439-141031640	GM12878	blood:	n/a	n/a
12	POLR2A	chr9:141034347-141034638	GM12878	blood:	n/a	n/a
13	POLR2A	chr9:141035506-141035533	K562	blood:	n/a	n/a
14	POLR2A	chr9:141034392-141034797	GM12892	blood:	n/a	n/a
15	POLR2A	chr9:141034050-141035240	GM12892	blood:	n/a	n/a
16	POLR2A	chr9:141034131-141034783	GM12878	blood:	n/a	n/a
17	POLR2A	chr9:141034384-141034715	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr9:141034073-141034752	GM12891	blood:	n/a	n/a
19	POLR2A	chr9:141034920-141035132	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr9:141034152-141034746	GM12891	blood:	n/a	n/a
21	POLR2A	chr9:141034138-141034359	H1-hESC	embryonic stem cell:	n/a	n/a
22	POU2F2	chr9:141034123-141034806	GM12891	blood:	n/a	n/a
23	POU2F2	chr9:141034419-141034600	GM12878	blood:	n/a	n/a
24	TCF3	chr9:141034240-141034798	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000229926	TF binding region

Extended variants
information (count: 258 )
Associated
traits (count: 19 )

Variant overlapped rSNPs/rCNVs (count:258 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71510884	chr9:141031184-141031185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs76070503	chr9:141031203-141031204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577634824	chr9:141031204-141031205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10867109	chr9:141031222-141031223	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs557435946	chr9:141031257-141031258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576155240	chr9:141031278-141031279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542037658	chr9:141031303-141031304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9314649	chr9:141031305-141031306	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs572338527	chr9:141031312-141031313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541359033	chr9:141031354-141031355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564025219	chr9:141031360-141031361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2507158	chr9:141031367-141031368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2507157	chr9:141031382-141031383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532952383	chr9:141031389-141031390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543144293	chr9:141031391-141031392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs56009993	chr9:141031439-141031440	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs137893039	chr9:141031480-141031481	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs529443464	chr9:141031483-141031484	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs143099950	chr9:141031516-141031517	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs146147415	chr9:141031518-141031519	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs139002252	chr9:141031519-141031520	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs9410168	chr9:141031520-141031521	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs571509309	chr9:141031549-141031550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9410079	chr9:141031567-141031568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200140014	chr9:141031603-141031604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs71495314	chr9:141031613-141031614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs60175300	chr9:141031619-141031620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9410080	chr9:141031650-141031651	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs567783501	chr9:141031659-141031660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369025658	chr9:141031678-141031679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555575681	chr9:141031680-141031681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533007789	chr9:141031686-141031687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572272662	chr9:141031734-141031735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375792921	chr9:141031739-141031740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558125478	chr9:141031742-141031743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577564361	chr9:141031768-141031769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188983923	chr9:141031774-141031775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2507156	chr9:141031821-141031822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528948661	chr9:141031837-141031838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113086598	chr9:141031843-141031844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192929055	chr9:141031847-141031848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528668778	chr9:141031850-141031851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375451702	chr9:141031856-141031857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551647356	chr9:141031878-141031879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571937820	chr9:141031880-141031881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9695626	chr9:141031898-141031899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184247338	chr9:141031950-141031951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4876936	chr9:141031991-141031992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549038017	chr9:141031994-141031995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2606369	chr9:141032005-141032006	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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:140988200-141044600	Weak transcription	Right Atrium	heart

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