Variant report

Variant	esv32968
Chromosome Location	chr9:141019509-141033162
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:252)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:252 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr9:141020637-141020864	K562	blood:	n/a	n/a
2	ATF3	chr9:141020692-141020855	GM12878	blood:	n/a	n/a
3	ATF3	chr9:141020689-141020889	GM12878	blood:	n/a	n/a
4	BATF	chr9:141023409-141023594	GM12878	blood:	n/a	n/a
5	BATF	chr9:141020609-141020912	GM12878	blood:	n/a	n/a
6	BCL11A	chr9:141023414-141023612	GM12878	blood:	n/a	n/a
7	CBX3	chr9:141020180-141021846	K562	blood:	n/a	n/a
8	CBX3	chr9:141023337-141023724	K562	blood:	n/a	n/a
9	CBX3	chr9:141020423-141021627	K562	blood:	n/a	n/a
10	CBX3	chr9:141023334-141023686	K562	blood:	n/a	n/a
11	CEBPB	chr9:141020616-141021529	K562	blood:	n/a	n/a
12	CEBPB	chr9:141021040-141021243	GM12878	blood:	n/a	n/a
13	CEBPB	chr9:141020544-141021559	GM12878	blood:	n/a	n/a
14	CEBPB	chr9:141020799-141021006	GM12878	blood:	n/a	n/a
15	CEBPD	chr9:141027620-141027978	K562	blood:	n/a	n/a
16	CTCF	chr9:141020700-141020850	NB4	blood:	n/a	n/a
17	CTCF	chr9:141026714-141026804	MCF-7	breast:	n/a	n/a
18	CTCF	chr9:141021749-141021805	GM12878	blood:	n/a	n/a
19	CTCF	chr9:141020681-141021107	HepG2	liver:	n/a	n/a
20	CTCF	chr9:141020420-141020570	GM12873	blood:	n/a	n/a
21	CTCF	chr9:141020680-141020830	WERI-Rb-1	eye:	n/a	n/a
22	CTCF	chr9:141020680-141020830	GM12873	blood:	n/a	n/a
23	CTCF	chr9:141020619-141020889	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr9:141027739-141027748	GM13976	blood:	n/a	n/a
25	CTCF	chr9:141021758-141021818	GM12892	blood:	n/a	n/a
26	CTCF	chr9:141020670-141021587	A549	lung:	n/a	n/a
27	CTCF	chr9:141020400-141020550	GM12875	blood:	n/a	n/a
28	CTCF	chr9:141020680-141020830	GM12872	blood:	n/a	n/a
29	CTCF	chr9:141026700-141026850	HEK293	kidney:	n/a	n/a
30	CTCF	chr9:141021791-141021829	GM19238	blood:	n/a	n/a
31	CTCF	chr9:141022346-141022463	GM10266	blood:	n/a	n/a
32	CTCF	chr9:141021951-141022099	GM10248	blood:	n/a	n/a
33	CTCF	chr9:141020919-141021071	HepG2	liver:	n/a	n/a
34	CTCF	chr9:141021912-141021992	GM13977	blood:	n/a	n/a
35	CTCF	chr9:141031723-141031832	HepG2	liver:	n/a	chr9:141031781-141031799 chr9:141031783-141031804
36	CTCF	chr9:141027792-141027844	GM10266	blood:	n/a	n/a
37	CTCF	chr9:141020680-141020830	HCPEpiC	choroid plexus:	n/a	n/a
38	CTCF	chr9:141020594-141021584	A549	lung:	n/a	n/a
39	CTCF	chr9:141022695-141022749	GM10248	blood:	n/a	chr9:141022721-141022729
40	CTCF	chr9:141020700-141020850	GM12870	blood:	n/a	n/a
41	CTCF	chr9:141020684-141020877	T-47D	breast:	n/a	n/a
42	CTCF	chr9:141020420-141020570	GM12864	blood:	n/a	n/a
43	CTCF	chr9:141020400-141020550	GM12867	blood:	n/a	n/a
44	CTCF	chr9:141021910-141021993	GM19240	blood:	n/a	n/a
45	CTCF	chr9:141019573-141019661	GM20000	blood:	n/a	n/a
46	CTCF	chr9:141020680-141020830	RPTEC	kidney:	n/a	n/a
47	CTCF	chr9:141020680-141020830	K562	blood:	n/a	n/a
48	CTCF	chr9:141020400-141020550	GM12871	blood:	n/a	n/a
49	CTCF	chr9:141020700-141020850	GM12868	blood:	n/a	n/a
50	CTCF	chr9:141020700-141020850	GM12866	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:141022253-141022303	GM06990	blood:	n/a
2	chr9:141022253-141022303	MCF-7	breast:	n/a
3	chr9:141022253-141022303	LNCaP	prostate:	n/a
4	chr9:141022253-141022303	HAEpiC	amniotic membrane:	n/a
5	chr9:141022253-141022303	AG10803	skin:	n/a
6	chr9:141022253-141022303	Hela-S3	cervix:	n/a
7	chr9:141022253-141022303	Jurkat	blood:	n/a
8	chr9:141022253-141022303	ProgFib	skin:	n/a
9	chr9:141022253-141022303	ovcar-3	ovarian:	n/a
10	chr9:141022253-141022303	SK-N-SH	brain:	n/a
11	chr9:141022253-141022303	SK-N-MC	brain:	n/a
12	chr9:141022253-141022303	K562	blood:	n/a
13	chr9:141022253-141022303	HPAEpiC	pulmonary alveolar:	n/a
14	chr9:141022253-141022303	NT2-D1	testis:	n/a
15	chr9:141022253-141022303	AG04450	lung:	fetal
16	chr9:141022253-141022303	NB4	blood:	n/a
17	chr9:141022253-141022303	HCPEpiC	choroid plexus:	n/a
18	chr9:141022253-141022303	HCT-116	colon:	n/a
19	chr9:141022253-141022303	T-47D	breast:	n/a
20	chr9:141022253-141022303	NHBE	bronchial:	n/a
21	chr9:141022253-141022303	AG09309	skin:	n/a
22	chr9:141022253-141022303	HIPEpiC	eye:	n/a
23	chr9:141022253-141022303	Caco-2	colon:	n/a
24	chr9:141022253-141022303	A549	lung:	n/a
25	chr9:141022253-141022303	HRCEpiC	kidney:	n/a
26	chr9:141022253-141022303	HEK293	kidney:	embryo
27	chr9:141022253-141022303	IMR90	lung:	fetal
28	chr9:141022253-141022303	HepG2	liver:	n/a
29	chr9:141022253-141022303	Hepatocyte	liver:	n/a
30	chr9:141022253-141022303	HCM	heart:	n/a
31	chr9:141022253-141022303	CMK	blood:	n/a
32	chr9:141022253-141022303	HRPEpiC	eye:	n/a
33	chr9:141022253-141022303	GM12891	blood:	n/a
34	chr9:141022253-141022303	GM19239	blood:	n/a
35	chr9:141022253-141022303	HEEpiC	esophagus:	n/a
36	chr9:141022253-141022303	SKMC	muscle:	n/a
37	chr9:141022253-141022303	NHDF-neo	bronchial:	n/a
38	chr9:141022253-141022303	NH-A	brain:	n/a
39	chr9:141022253-141022303	HUVEC	blood vessel:	n/a
40	chr9:141022253-141022303	SAEC	small airway:	n/a
41	chr9:141022253-141022303	RPTEC	kidney:	n/a
42	chr9:141022253-141022303	H1-hESC	embryonic stem cell:	embryo
43	chr9:141022253-141022303	SK-N-SH_RA	brain:	n/a
44	chr9:141022253-141022303	PrEC	prostate:	n/a
45	chr9:141022253-141022303	BJ	skin:	n/a
46	chr9:141022253-141022303	PANC-1	pancreas:	n/a
47	chr9:141022253-141022303	AG09319	gingival:	n/a
48	chr9:141022253-141022303	AG04449	skin:	fetal
49	chr9:141022253-141022303	BE2_C	brain:	n/a
50	chr9:141022253-141022303	HMEC	breast:	n/a

No data

Variant related genes	Relation type
ENSG00000229926	TF binding region
ENSG00000229926	CpG island

Extended variants
information (count: 658 )
Associated
traits (count: 19 )

Variant overlapped rSNPs/rCNVs (count:658 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533177459	chr9:141019524-141019525	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551998089	chr9:141019569-141019570	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571641660	chr9:141019580-141019581	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574996177	chr9:141019585-141019586	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9969819	chr9:141019593-141019594	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563579225	chr9:141019611-141019612	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9414685	chr9:141019618-141019619	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs371600695	chr9:141019620-141019621	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182433872	chr9:141019668-141019669	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565754292	chr9:141019681-141019682	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs9969822	chr9:141019705-141019706	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9969793	chr9:141019766-141019767	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114770359	chr9:141019771-141019772	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551478849	chr9:141019789-141019790	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143393325	chr9:141019791-141019792	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537248829	chr9:141019796-141019797	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550857466	chr9:141019799-141019800	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567657635	chr9:141019880-141019881	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557371654	chr9:141019910-141019911	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs151033190	chr9:141019927-141019928	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs202152948	chr9:141019929-141019930	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536633593	chr9:141019930-141019931	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372804701	chr9:141019948-141019949	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2606347	chr9:141019965-141019966	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573211524	chr9:141019980-141019981	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373554299	chr9:141019993-141019994	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9776961	chr9:141020002-141020003	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs9776656	chr9:141020082-141020083	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs577866006	chr9:141020131-141020132	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543690472	chr9:141020308-141020309	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374493204	chr9:141020319-141020320	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563566986	chr9:141020326-141020327	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574020463	chr9:141020365-141020366	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537586599	chr9:141020395-141020396	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2606348	chr9:141020406-141020407	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542589192	chr9:141020407-141020408	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2606349	chr9:141020424-141020425	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192307212	chr9:141020425-141020426	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536517500	chr9:141020436-141020437	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551151496	chr9:141020437-141020438	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs71495307	chr9:141020447-141020448	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12350308	chr9:141020454-141020455	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs531008530	chr9:141020463-141020464	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62579508	chr9:141020483-141020484	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs544863607	chr9:141020497-141020498	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558747440	chr9:141020499-141020500	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71510872	chr9:141020534-141020535	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71510873	chr9:141020566-141020567	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4876930	chr9:141020633-141020634	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566706157	chr9:141020669-141020670	ZNF genes & repeats Enhancers 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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:140988200-141044600	Weak transcription	Right Atrium	heart
2	chr9:141012600-141022200	Weak transcription	Brain Angular Gyrus	brain
3	chr9:141019000-141020800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
4	chr9:141020600-141020800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr9:141022600-141023400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:141022600-141023400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr9:141023400-141023800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
8	chr9:141023400-141023800	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr9:141023400-141024000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:141023400-141024000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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