Variant report

Variant	nsv1044126
Chromosome Location	chr11:17557715-17730646
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1546)
CpG islands
(count:2199)
Chromatin interactive
region (count:88)
LncRNA
region (count:19)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1546 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:17671968-17672201	HepG2	liver:	n/a	n/a
2	ATF1	chr11:17628235-17628622	K562	blood:	n/a	n/a
3	ATF1	chr11:17572084-17572296	K562	blood:	n/a	n/a
4	ATF2	chr11:17620484-17620848	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF3	chr11:17725592-17725911	GM12878	blood:	n/a	n/a
6	ATF3	chr11:17721100-17721405	K562	blood:	n/a	n/a
7	ATF3	chr11:17725652-17725838	K562	blood:	n/a	n/a
8	ATF3	chr11:17628163-17628526	K562	blood:	n/a	n/a
9	BACH1	chr11:17620619-17620801	K562	blood:	n/a	n/a
10	BACH1	chr11:17566012-17566149	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr11:17717654-17717769	H1-hESC	embryonic stem cell:	n/a	n/a
12	BCL3	chr11:17705029-17705295	GM12878	blood:	n/a	n/a
13	BHLHE40	chr11:17620457-17620819	GM12878	blood:	n/a	n/a
14	BHLHE40	chr11:17721100-17721426	K562	blood:	n/a	chr11:17721107-17721123
15	BHLHE40	chr11:17597349-17597729	HepG2	liver:	n/a	chr11:17597468-17597477
16	BHLHE40	chr11:17597341-17597624	K562	blood:	n/a	chr11:17597468-17597477
17	BHLHE40	chr11:17620615-17620804	K562	blood:	n/a	n/a
18	BHLHE40	chr11:17656958-17657152	K562	blood:	n/a	chr11:17657012-17657025 chr11:17657008-17657029
19	BRCA1	chr11:17620579-17620779	Hela-S3	cervix:	n/a	n/a
20	BRCA1	chr11:17705053-17705514	Hela-S3	cervix:	n/a	n/a
21	CBX3	chr11:17721090-17721463	K562	blood:	n/a	n/a
22	CCNT2	chr11:17593825-17594070	K562	blood:	n/a	n/a
23	CEBPB	chr11:17602987-17603353	K562	blood:	n/a	chr11:17603166-17603177
24	CEBPB	chr11:17602996-17603333	Hela-S3	cervix:	n/a	chr11:17603166-17603177
25	CEBPB	chr11:17680410-17680634	A549	lung:	n/a	chr11:17680586-17680597
26	CEBPB	chr11:17602990-17603355	IMR90	lung:	n/a	chr11:17603166-17603177
27	CEBPB	chr11:17641563-17641830	HepG2	liver:	n/a	chr11:17641705-17641716
28	CEBPB	chr11:17641570-17641828	A549	lung:	n/a	chr11:17641705-17641716
29	CEBPB	chr11:17641053-17641205	A549	lung:	n/a	chr11:17641178-17641189
30	CEBPB	chr11:17725560-17725583	A549	lung:	n/a	n/a
31	CEBPB	chr11:17680490-17680658	H1-hESC	embryonic stem cell:	n/a	chr11:17680586-17680597
32	CEBPB	chr11:17603006-17603316	ECC-1	luminal epithelium:	n/a	chr11:17603166-17603177
33	CEBPB	chr11:17641598-17641741	H1-hESC	embryonic stem cell:	n/a	chr11:17641705-17641716
34	CEBPB	chr11:17628296-17628482	Hela-S3	cervix:	n/a	chr11:17628357-17628368
35	CEBPB	chr11:17561324-17561348	H1-hESC	embryonic stem cell:	n/a	n/a
36	CEBPB	chr11:17602986-17603307	H1-hESC	embryonic stem cell:	n/a	chr11:17603166-17603177
37	CEBPB	chr11:17680479-17680725	HepG2	liver:	n/a	chr11:17680586-17680597
38	CEBPB	chr11:17628306-17628476	HepG2	liver:	n/a	chr11:17628357-17628368
39	CEBPB	chr11:17602982-17603347	A549	lung:	n/a	chr11:17603166-17603177
40	CEBPB	chr11:17680451-17680731	IMR90	lung:	n/a	chr11:17680586-17680597
41	CEBPB	chr11:17666681-17666736	HepG2	liver:	n/a	chr11:17666696-17666707 chr11:17666694-17666707 chr11:17666694-17666707 chr11:17666694-17666705
42	CEBPB	chr11:17603008-17603337	HepG2	liver:	n/a	chr11:17603166-17603177
43	CEBPB	chr11:17602993-17603294	ECC-1	luminal epithelium:	n/a	chr11:17603166-17603177
44	CEBPB	chr11:17671157-17671617	Hela-S3	cervix:	n/a	n/a
45	CEBPB	chr11:17641641-17641741	K562	blood:	n/a	chr11:17641705-17641716
46	CEBPB	chr11:17628265-17628516	A549	lung:	n/a	chr11:17628357-17628368
47	CEBPB	chr11:17628202-17628519	K562	blood:	n/a	chr11:17628357-17628368
48	CEBPB	chr11:17588780-17589028	HepG2	liver:	n/a	chr11:17588880-17588889 chr11:17588878-17588889
49	CEBPB	chr11:17602873-17603424	A549	lung:	n/a	chr11:17603166-17603177
50	CEBPB	chr11:17704965-17705548	Hela-S3	cervix:	n/a	n/a

(count:2199 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:17563125-17563175	BJ	skin:	n/a
2	chr11:17720071-17720121	HEEpiC	esophagus:	n/a
3	chr11:17599798-17599848	Caco-2	colon:	n/a
4	chr11:17563125-17563175	BJ	skin:	n/a
5	chr11:17720071-17720121	HEEpiC	esophagus:	n/a
6	chr11:17599798-17599848	Caco-2	colon:	n/a
7	chr11:17566591-17566641	HCPEpiC	choroid plexus:	n/a
8	chr11:17591822-17591872	Hela-S3	cervix:	n/a
9	chr11:17568889-17568939	Hepatocyte	liver:	n/a
10	chr11:17599365-17599415	MCF10A-Er-Src	breast:	n/a
11	chr11:17591837-17591887	HRPEpiC	eye:	n/a
12	chr11:17563125-17563175	HEK293	kidney:	embryo
13	chr11:17566011-17566061	NT2-D1	testis:	n/a
14	chr11:17566048-17566098	SK-N-SH	brain:	n/a
15	chr11:17566048-17566098	HCM	heart:	n/a
16	chr11:17565885-17565935	SK-N-SH_RA	brain:	n/a
17	chr11:17599715-17599765	ProgFib	skin:	n/a
18	chr11:17566051-17566101	MCF-7	breast:	n/a
19	chr11:17566011-17566061	HCPEpiC	choroid plexus:	n/a
20	chr11:17565878-17565928	HRCEpiC	kidney:	n/a
21	chr11:17566772-17566822	IMR90	lung:	fetal
22	chr11:17564696-17564746	K562	blood:	n/a
23	chr11:17599798-17599848	Hepatocyte	liver:	n/a
24	chr11:17598735-17598785	HRE	kidney:	n/a
25	chr11:17713884-17713934	PrEC	prostate:	n/a
26	chr11:17599691-17599741	AG09309	skin:	n/a
27	chr11:17566591-17566641	SKMC	muscle:	n/a
28	chr11:17567447-17567497	HPAEpiC	pulmonary alveolar:	n/a
29	chr11:17717629-17717679	PrEC	prostate:	n/a
30	chr11:17602053-17602103	SKMC	muscle:	n/a
31	chr11:17566772-17566822	ProgFib	skin:	n/a
32	chr11:17566591-17566641	Jurkat	blood:	n/a
33	chr11:17564425-17564475	MCF-7	breast:	n/a
34	chr11:17599365-17599415	U87	brain:	n/a
35	chr11:17566011-17566061	AG04449	skin:	fetal
36	chr11:17566772-17566822	HMEC	breast:	n/a
37	chr11:17599715-17599765	AoSMC	blood vessel:	n/a
38	chr11:17717280-17717330	PFSK-1	brain:	n/a
39	chr11:17564696-17564746	HRCEpiC	kidney:	n/a
40	chr11:17717629-17717679	CMK	blood:	n/a
41	chr11:17598735-17598785	AG04450	lung:	fetal
42	chr11:17717629-17717679	K562	blood:	n/a
43	chr11:17599798-17599848	HRE	kidney:	n/a
44	chr11:17566034-17566084	SK-N-MC	brain:	n/a
45	chr11:17566017-17566067	IMR90	lung:	fetal
46	chr11:17564425-17564475	HCF	heart:	n/a
47	chr11:17566051-17566101	AG04450	lung:	fetal
48	chr11:17568889-17568939	K562	blood:	n/a
49	chr11:17599365-17599415	SK-N-SH_RA	brain:	n/a
50	chr11:17599715-17599765	AG09319	gingival:	n/a

(count:88 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:17588922..17590478-chr11:17766034..17768818,2	K562	blood:
2	chr11:17677366..17679663-chr11:17682918..17684836,2	K562	blood:
3	chr11:17584725..17586615-chr11:17597092..17599857,2	MCF-7	breast:
4	chr11:17701946..17705746-chr11:17707792..17711044,3	K562	blood:
5	chr11:17597969..17599564-chr11:17601245..17604128,2	K562	blood:
6	chr11:17620168..17621149-chr11:17752060..17752755,3	K562	blood:
7	chr11:17405649..17406157-chr11:17617828..17618472,2	MCF-7	breast:
8	chr11:17605717..17608224-chr11:17613045..17615760,2	K562	blood:
9	chr11:17620421..17621053-chr11:17653404..17653971,2	MCF-7	breast:
10	chr11:17620421..17621053-chr11:17653404..17653971,2	MCF-7	breast:
11	chr11:17614076..17616630-chr11:18008858..18011445,2	K562	blood:
12	chr11:17620453..17621194-chr11:17656903..17657523,2	K562	blood:
13	chr11:17622327..17624526-chr11:17631868..17633701,2	K562	blood:
14	chr11:17726249..17728928-chr11:17732573..17735083,2	MCF-7	breast:
15	chr11:17567135..17572180-chr11:17576316..17581948,6	K562	blood:
16	chr11:17611206..17613431-chr11:17997652..17999714,2	K562	blood:
17	chr11:17564338..17566127-chr11:17572702..17576571,3	K562	blood:
18	chr11:17563988..17566643-chr11:17568666..17571231,2	MCF-7	breast:
19	chr11:17628448..17630427-chr11:17632737..17634648,2	MCF-7	breast:
20	chr11:17674426..17676272-chr11:17704010..17706690,2	K562	blood:
21	chr11:17558247..17559969-chr11:17568227..17570175,2	K562	blood:
22	chr11:17612630..17615852-chr11:17618211..17621966,5	K562	blood:
23	chr11:17722486..17724717-chr11:17727954..17730842,2	K562	blood:
24	chr11:17620215..17621250-chr11:17751773..17752935,12	MCF-7	breast:
25	chr11:17652276..17654406-chr11:17655549..17657899,2	K562	blood:
26	chr11:17622422..17624117-chr11:17750393..17752396,2	MCF-7	breast:
27	chr11:17613851..17615852-chr11:17618266..17620129,2	K562	blood:
28	chr11:17628448..17630427-chr11:17632737..17634648,2	MCF-7	breast:
29	chr11:17619891..17621109-chr11:17743288..17744431,5	MCF-7	breast:
30	chr11:17578365..17580159-chr11:17580246..17582171,2	MCF-7	breast:
31	chr11:17677366..17679663-chr11:17682918..17684836,2	K562	blood:
32	chr11:17612630..17615852-chr11:17618211..17621966,5	K562	blood:
33	chr11:17622678..17623570-chr11:17743313..17743816,2	MCF-7	breast:
34	chr11:17620217..17621179-chr11:17742829..17744247,6	MCF-7	breast:
35	chr11:17622892..17623600-chr11:17752018..17752807,2	MCF-7	breast:
36	chr11:17550003..17552043-chr11:17563166..17565257,2	K562	blood:
37	chr11:17649369..17651435-chr11:17694889..17696565,2	MCF-7	breast:
38	chr11:17594662..17597692-chr11:17599938..17601708,3	K562	blood:
39	chr11:17595636..17597692-chr11:17599938..17601981,3	K562	blood:
40	chr11:17705084..17707821-chr11:17711837..17714694,2	K562	blood:
41	chr11:17569821..17570438-chr11:17586271..17587120,2	MCF-7	breast:
42	chr11:17666374..17668800-chr11:17671992..17673793,2	K562	blood:
43	chr11:17594662..17597692-chr11:17599938..17601708,3	K562	blood:
44	chr11:17705084..17707821-chr11:17711837..17714694,2	K562	blood:
45	chr11:17658918..17660836-chr11:17665440..17668031,2	MCF-7	breast:
46	chr11:17701946..17705746-chr11:17707792..17711044,3	K562	blood:
47	chr11:17605717..17608224-chr11:17613045..17615760,2	K562	blood:
48	chr11:17614764..17616023-chr11:17751704..17752684,3	MCF-7	breast:
49	chr11:17520408..17522288-chr11:17583277..17586222,2	K562	blood:
50	chr11:17579575..17581891-chr11:17582600..17585148,3	K562	blood:

(count:19 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-USH1C-1	chr11:17674942-17675179	l_441_chr11:17673393-17675099_testes
2	lnc-USH1C-1	chr11:17673394-17673887	l_441_chr11:17673393-17675099_testes
3	lnc-SERGEF-2	chr11:17718366-17718523	XLOC_009385
4	lnc-MYOD1-1	chr11:17716600-17716913	ENSG00000254586
5	lnc-MYOD1-1	chr11:17716569-17716597	ENSG00000254586
6	lnc-SERGEF-2	chr11:17716823-17717247	NONHSAT018243
7	lnc-MYOD1-1	chr11:17718516-17718844	ENSG00000254586
8	lnc-SERGEF-2	chr11:17718427-17718751	NONHSAT018242
9	lnc-SERGEF-2	chr11:17717579-17717919	XLOC_009385
10	lnc-SERGEF-2	chr11:17718366-17718751	NONHSAT018243
11	lnc-SERGEF-2	chr11:17716827-17717311	XLOC_009385
12	lnc-SERGEF-2	chr11:17716814-17717247	ENSG00000255335.1
13	lnc-MYOD1-1	chr11:17718516-17719018	ENSG00000254586
14	lnc-SERGEF-2	chr11:17716827-17717247	XLOC_009385
15	lnc-SERGEF-2	chr11:17718366-17719033	XLOC_009385
16	lnc-SERGEF-2	chr11:17716823-17717247	NONHSAT018242
17	lnc-MYOD1-1	chr11:17716844-17716913	ENSG00000254586
18	lnc-SERGEF-2	chr11:17718366-17718487	ENSG00000255335.1
19	lnc-SERGEF-2	chr11:17716818-17717247	XLOC_009385

No data

Variant related genes	Relation type
OTOG	TF binding region
ENSG00000255335	TF binding region
USH1C	TF binding region
ENSG00000254586	TF binding region
OTOG	CpG island
ENSG00000255335	CpG island
USH1C	CpG island
ENSG00000254586	CpG island
ENSG00000129152	chromatin interactions
ENSG00000006611	chromatin interactions
ENSG00000266402	chromatin interactions
ENSG00000255335	chromatin interactions
ENSG00000188162	chromatin interactions
ENSG00000199753	chromatin interactions
ENSG00000129158	chromatin interactions
ENSG00000254586	chromatin interactions
ZNF644	miRNA target sites

Extended variants
information (count: 5915 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:5915 , 50 per page) page: 1 2 3 4 5 6 7 ... 119

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184138013	chr11:17557717-17557718	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs535279456	chr11:17557720-17557721	Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs112139323	chr11:17557811-17557812	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552116180	chr11:17557812-17557813	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs151038960	chr11:17557843-17557844	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538772484	chr11:17557855-17557856	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369290402	chr11:17557865-17557866	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189062169	chr11:17557892-17557893	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78484388	chr11:17557906-17557907	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536206206	chr11:17557913-17557914	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs377401242	chr11:17557920-17557921	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554535734	chr11:17558034-17558035	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543971701	chr11:17558050-17558051	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs377736142	chr11:17558079-17558080	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573483651	chr11:17558108-17558109	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540904532	chr11:17558130-17558131	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554053695	chr11:17558165-17558166	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562276475	chr11:17558178-17558179	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192507890	chr11:17558185-17558186	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184682119	chr11:17558203-17558204	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572221772	chr11:17558230-17558231	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs74513242	chr11:17558245-17558246	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574574879	chr11:17558286-17558287	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs146916301	chr11:17558314-17558315	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs529580264	chr11:17558328-17558329	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs188999277	chr11:17558344-17558345	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs527623866	chr11:17558347-17558348	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs147923741	chr11:17558379-17558380	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs2237958	chr11:17558388-17558389	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs531490077	chr11:17558400-17558401	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs550671494	chr11:17558448-17558449	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs181359919	chr11:17558481-17558482	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs184963558	chr11:17558526-17558527	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs548210732	chr11:17558569-17558570	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs543554833	chr11:17558669-17558670	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs566820707	chr11:17558670-17558671	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs534243955	chr11:17558834-17558835	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs34716811	chr11:17558858-17558859	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs562018355	chr11:17558876-17558877	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs113447644	chr11:17558881-17558882	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs577375300	chr11:17558894-17558895	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs141785008	chr11:17558895-17558896	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs189442498	chr11:17558914-17558915	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs574613939	chr11:17558944-17558945	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs111503966	chr11:17559003-17559004	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs529523855	chr11:17559006-17559007	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs541232126	chr11:17559012-17559013	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs180950522	chr11:17559017-17559018	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs2237957	chr11:17559018-17559019	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs539488179	chr11:17559031-17559032	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Lung adenocarcinoma	17086460	CNVD
Urothelial cell carcinoma	18451213	CNVD
Lung cancer	17086460	CNVD
Uterine serous papillary cancer	19536090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:817 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17538400-17562200	Weak transcription	Small Intestine	intestine
2	chr11:17547200-17563200	Genic enhancers	Fetal Intestine Small	intestine
3	chr11:17553600-17561800	Weak transcription	Gastric	stomach
4	chr11:17553600-17562200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr11:17553800-17558200	Weak transcription	Stomach Mucosa	stomach
6	chr11:17553800-17558600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr11:17553800-17563200	Weak transcription	Colonic Mucosa	Colon
8	chr11:17555400-17560400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr11:17555800-17562400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr11:17556000-17558000	Enhancers	Hela-S3	cervix
11	chr11:17556800-17558800	Enhancers	Fetal Intestine Large	intestine
12	chr11:17557200-17557800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr11:17557800-17558000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr11:17558000-17558400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr11:17558000-17563400	Weak transcription	Hela-S3	cervix
16	chr11:17558200-17559800	Enhancers	Stomach Mucosa	stomach
17	chr11:17558400-17563200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr11:17558600-17559000	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr11:17558800-17562200	Genic enhancers	Fetal Intestine Large	intestine
20	chr11:17559000-17561800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr11:17559600-17560600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr11:17559800-17560200	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr11:17559800-17562000	Weak transcription	Stomach Mucosa	stomach
24	chr11:17560200-17560600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr11:17560200-17562200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr11:17560400-17562600	Enhancers	Duodenum Mucosa	Duodenum
27	chr11:17560600-17560800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:17560800-17562000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:17561800-17562200	Enhancers	Gastric	stomach
30	chr11:17561800-17562800	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr11:17561800-17563000	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr11:17562000-17564000	Enhancers	Stomach Mucosa	stomach
33	chr11:17562000-17565200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr11:17562200-17562400	Enhancers	H1 Cell Line	embryonic stem cell
35	chr11:17562200-17562400	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr11:17562200-17562400	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
37	chr11:17562200-17564400	Weak transcription	Gastric	stomach
38	chr11:17562400-17562600	Enhancers	Small Intestine	intestine
39	chr11:17562400-17562800	Flanking Active TSS	Fetal Intestine Large	intestine
40	chr11:17562400-17564400	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr11:17562400-17566200	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr11:17562600-17562800	Flanking Active TSS	Duodenum Mucosa	Duodenum
43	chr11:17562600-17565000	Enhancers	A549	lung
44	chr11:17562800-17563200	Active TSS	Duodenum Mucosa	Duodenum
45	chr11:17562800-17563200	Enhancers	Fetal Intestine Large	intestine
46	chr11:17562800-17563600	Enhancers	HepG2	liver
47	chr11:17563000-17563400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
48	chr11:17563000-17563800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
49	chr11:17563000-17564000	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr11:17563200-17563400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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