Variant report

Variant	nsv511540
Chromosome Location	chr14:105285159-105314093
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1028)
CpG islands
(count:2203)
Chromatin interactive
region (count:67)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1028 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:105287166-105287416	HepG2	liver:	n/a	n/a
2	ATF2	chr14:105309952-105310298	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr14:105287096-105287337	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr14:105309848-105310593	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr14:105293388-105294331	H1-hESC	embryonic stem cell:	n/a	n/a
6	BHLHE40	chr14:105292777-105293009	GM12878	blood:	n/a	n/a
7	BHLHE40	chr14:105286963-105287348	HepG2	liver:	n/a	n/a
8	BHLHE40	chr14:105297136-105297489	K562	blood:	n/a	n/a
9	BHLHE40	chr14:105293954-105294144	K562	blood:	n/a	n/a
10	BHLHE40	chr14:105297149-105297499	HepG2	liver:	n/a	n/a
11	BHLHE40	chr14:105287068-105287325	K562	blood:	n/a	n/a
12	BRCA1	chr14:105294006-105294178	H1-hESC	embryonic stem cell:	n/a	n/a
13	BRCA1	chr14:105287148-105287166	HepG2	liver:	n/a	n/a
14	BRCA1	chr14:105311936-105311956	Hela-S3	cervix:	n/a	n/a
15	BRCA1	chr14:105287830-105287870	HepG2	liver:	n/a	n/a
16	CCNT2	chr14:105294218-105294248	K562	blood:	n/a	n/a
17	CCNT2	chr14:105293659-105293720	K562	blood:	n/a	n/a
18	CCNT2	chr14:105292750-105292904	K562	blood:	n/a	n/a
19	CEBPB	chr14:105292884-105292965	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr14:105310360-105310752	H1-hESC	embryonic stem cell:	n/a	chr14:105310618-105310631
21	CEBPB	chr14:105301155-105301359	K562	blood:	n/a	n/a
22	CEBPD	chr14:105293967-105294310	HepG2	liver:	n/a	n/a
23	CHD1	chr14:105310508-105310663	H1-hESC	embryonic stem cell:	n/a	n/a
24	CHD1	chr14:105309989-105310220	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD2	chr14:105292794-105292796	K562	blood:	n/a	n/a
26	CHD2	chr14:105292666-105292949	GM12878	blood:	n/a	chr14:105292812-105292819 chr14:105292767-105292777
27	CHD2	chr14:105292098-105292337	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD2	chr14:105309936-105310952	H1-hESC	embryonic stem cell:	n/a	n/a
29	CHD2	chr14:105287120-105287394	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD2	chr14:105293963-105294286	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD2	chr14:105293924-105294117	HepG2	liver:	n/a	n/a
32	CHD2	chr14:105287268-105287374	HepG2	liver:	n/a	n/a
33	CHD2	chr14:105292596-105292967	Hela-S3	cervix:	n/a	chr14:105292812-105292819 chr14:105292767-105292777
34	CREB1	chr14:105292603-105293132	A549	lung:	n/a	n/a
35	CTBP2	chr14:105310107-105311112	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr14:105309860-105310010	HCPEpiC	choroid plexus:	n/a	chr14:105309957-105309970
37	CTCF	chr14:105294040-105294190	MCF-7	breast:	n/a	chr14:105294124-105294137 chr14:105294123-105294144 chr14:105294121-105294139 chr14:105294152-105294161
38	CTCF	chr14:105287162-105287318	K562	blood:	n/a	n/a
39	CTCF	chr14:105287019-105287420	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr14:105292628-105293054	Kidney_OC	kidney:	n/a	n/a
41	CTCF	chr14:105292597-105292652	GM10266	blood:	n/a	n/a
42	CTCF	chr14:105287200-105287350	WERI-Rb-1	eye:	n/a	n/a
43	CTCF	chr14:105294040-105294190	NHDF-neo	bronchial:	n/a	chr14:105294124-105294137 chr14:105294123-105294144 chr14:105294121-105294139 chr14:105294152-105294161
44	CTCF	chr14:105294015-105294227	SK-N-SH_RA	brain:	n/a	chr14:105294124-105294137 chr14:105294123-105294144 chr14:105294121-105294139 chr14:105294152-105294161
45	CTCF	chr14:105293938-105294310	IMR90	lung:	n/a	chr14:105294124-105294137 chr14:105294123-105294144 chr14:105294121-105294139 chr14:105294152-105294161
46	CTCF	chr14:105287035-105287361	HepG2	liver:	n/a	n/a
47	CTCF	chr14:105294040-105294190	HAc	cerebellar:	n/a	chr14:105294124-105294137 chr14:105294123-105294144 chr14:105294121-105294139 chr14:105294152-105294161
48	CTCF	chr14:105294020-105294170	GM12866	blood:	n/a	chr14:105294124-105294137 chr14:105294123-105294144 chr14:105294121-105294139 chr14:105294152-105294161
49	CTCF	chr14:105287180-105287330	HMF	breast:	n/a	n/a
50	CTCF	chr14:105287120-105287270	MCF-7	breast:	n/a	n/a

(count:2203 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:105287427-105287477	AG09319	gingival:	n/a
2	chr14:105302637-105302687	MCF10A-Er-Src	breast:	n/a
3	chr14:105310639-105310689	HepG2	liver:	n/a
4	chr14:105286642-105286692	GM12878	blood:	n/a
5	chr14:105288878-105288928	PFSK-1	brain:	n/a
6	chr14:105293866-105293916	PrEC	prostate:	n/a
7	chr14:105286678-105286728	NHDF-neo	bronchial:	n/a
8	chr14:105287427-105287477	AG09319	gingival:	n/a
9	chr14:105302637-105302687	MCF10A-Er-Src	breast:	n/a
10	chr14:105310639-105310689	HepG2	liver:	n/a
11	chr14:105286642-105286692	GM12878	blood:	n/a
12	chr14:105288878-105288928	PFSK-1	brain:	n/a
13	chr14:105293866-105293916	PrEC	prostate:	n/a
14	chr14:105286678-105286728	NHDF-neo	bronchial:	n/a
15	chr14:105292332-105292382	HCM	heart:	n/a
16	chr14:105286102-105286152	K562	blood:	n/a
17	chr14:105293957-105294007	HCT-116	colon:	n/a
18	chr14:105310181-105310231	Caco-2	colon:	n/a
19	chr14:105287427-105287477	GM12892	blood:	n/a
20	chr14:105293067-105293117	A549	lung:	n/a
21	chr14:105293067-105293117	Jurkat	blood:	n/a
22	chr14:105286642-105286692	PrEC	prostate:	n/a
23	chr14:105312726-105312776	PrEC	prostate:	n/a
24	chr14:105309352-105309402	GM19239	blood:	n/a
25	chr14:105286678-105286728	HRCEpiC	kidney:	n/a
26	chr14:105293957-105294007	HNPCEpiC	eye:	n/a
27	chr14:105287408-105287458	AG04449	skin:	fetal
28	chr14:105309812-105309862	NHDF-neo	bronchial:	n/a
29	chr14:105310921-105310971	GM19239	blood:	n/a
30	chr14:105295832-105295882	PrEC	prostate:	n/a
31	chr14:105293878-105293928	HCM	heart:	n/a
32	chr14:105297364-105297414	SK-N-SH_RA	brain:	n/a
33	chr14:105293878-105293928	BJ	skin:	n/a
34	chr14:105295832-105295882	GM12878	blood:	n/a
35	chr14:105289445-105289495	IMR90	lung:	fetal
36	chr14:105286642-105286692	Jurkat	blood:	n/a
37	chr14:105288120-105288170	NHDF-neo	bronchial:	n/a
38	chr14:105288878-105288928	NHBE	bronchial:	n/a
39	chr14:105306646-105306696	NHDF-neo	bronchial:	n/a
40	chr14:105287427-105287477	Caco-2	colon:	n/a
41	chr14:105303134-105303184	ovcar-3	ovarian:	n/a
42	chr14:105310921-105310971	SAEC	small airway:	n/a
43	chr14:105286870-105286920	HAEpiC	amniotic membrane:	n/a
44	chr14:105312726-105312776	NH-A	brain:	n/a
45	chr14:105293760-105293810	GM12891	blood:	n/a
46	chr14:105293199-105293249	AoSMC	blood vessel:	n/a
47	chr14:105287408-105287458	NT2-D1	testis:	n/a
48	chr14:105287326-105287376	SK-N-SH	brain:	n/a
49	chr14:105287408-105287458	HMEC	breast:	n/a
50	chr14:105288120-105288170	U87	brain:	n/a

(count:67 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr14:105268427..105271161-chr14:105291567..105294333,2	K562	blood:
2	chr14:105294072..105294589-chr14:105362751..105363336,2	MCF-7	breast:
3	chr14:105262687..105269353-chr14:105280701..105285854,11	K562	blood:
4	chr14:105234590..105235623-chr14:105292148..105293402,8	K562	blood:
5	chr14:105292163..105294059-chr14:105311800..105314620,2	K562	blood:
6	chr14:105309593..105311570-chr14:105314429..105316740,2	K562	blood:
7	chr14:105309612..105312495-chr14:105330781..105333618,2	K562	blood:
8	chr14:105189504..105190527-chr14:105292721..105293350,3	MCF-7	breast:
9	chr14:105292878..105295272-chr14:105309126..105311348,2	MCF-7	breast:
10	chr14:105234582..105235382-chr14:105287631..105288249,2	MCF-7	breast:
11	chr14:105218306..105221418-chr14:105291704..105295058,3	MCF-7	breast:
12	chr14:105189826..105192403-chr14:105291424..105294271,3	MCF-7	breast:
13	chr14:105314063..105316445-chr14:105330561..105333077,2	MCF-7	breast:
14	chr14:105311809..105313743-chr14:105332493..105335026,2	K562	blood:
15	chr14:105286488..105288795-chr17:79479840..79482559,2	MCF-7	breast:
16	chr14:105289983..105292400-chr14:105295807..105297431,2	MCF-7	breast:
17	chr14:105234529..105236014-chr14:105292452..105293414,8	MCF-7	breast:
18	chr14:105280954..105282466-chr14:105292119..105293629,2	K562	blood:
19	chr14:105218316..105220941-chr14:105310362..105313289,2	MCF-7	breast:
20	chr14:105292002..105293559-chr14:105403118..105405949,2	MCF-7	breast:
21	chr14:105282552..105286026-chr14:105289483..105293569,5	K562	blood:
22	chr14:105261231..105263792-chr14:105289415..105291496,2	K562	blood:
23	chr14:105234738..105235318-chr14:105293407..105294201,2	K562	blood:
24	chr14:105292878..105295272-chr14:105309126..105311348,2	MCF-7	breast:
25	chr14:105266435..105267408-chr14:105286766..105287693,2	MCF-7	breast:
26	chr14:105234538..105236569-chr14:105286438..105288492,2	K562	blood:
27	chr14:105280966..105282808-chr14:105292129..105294295,2	K562	blood:
28	chr14:105287373..105290281-chr14:105329548..105332218,5	MCF-7	breast:
29	chr14:105226070..105227570-chr14:105291620..105294600,2	MCF-7	breast:
30	chr14:105279760..105281975-chr14:105284516..105287260,2	K562	blood:
31	chr14:105197416..105200391-chr14:105289343..105292189,2	MCF-7	breast:
32	chr14:105291374..105295422-chr14:105328190..105336195,18	MCF-7	breast:
33	chr14:105292450..105295087-chr14:105329500..105333525,7	MCF-7	breast:
34	chr14:105214906..105218911-chr14:105291555..105293979,3	K562	blood:
35	chr14:105235443..105237438-chr14:105291289..105294293,4	K562	blood:
36	chr14:105285820..105287586-chr14:105330282..105332678,2	MCF-7	breast:
37	chr14:105292163..105294059-chr14:105311800..105314620,2	K562	blood:
38	chr14:105311864..105313874-chr14:105340355..105342482,2	MCF-7	breast:
39	chr14:105190451..105191132-chr14:105286694..105287658,2	MCF-7	breast:
40	chr14:105293283..105294221-chr14:105511851..105512622,2	MCF-7	breast:
41	chr14:105214906..105217436-chr14:105291555..105293979,2	K562	blood:
42	chr14:105313078..105314638-chr15:99394712..99397073,2	MCF-7	breast:
43	chr14:105284508..105286639-chr14:105398983..105401312,2	MCF-7	breast:
44	chr14:105292149..105293877-chr14:105432490..105434872,2	MCF-7	breast:
45	chr14:105259095..105269353-chr14:105280422..105289302,26	K562	blood:
46	chr14:105190468..105192484-chr14:105291233..105293061,2	MCF-7	breast:
47	chr14:105264645..105268219-chr14:105292165..105294813,6	K562	blood:
48	chr14:105234579..105236355-chr14:105286684..105287712,12	MCF-7	breast:
49	chr14:105234486..105235367-chr14:105292449..105293276,4	MCF-7	breast:
50	chr14:105284603..105287527-chr14:105343615..105347092,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AKT1-3	chr14:105297175-105297508	NONHSAT040287

No data

Variant related genes	Relation type
ENSG00000258811	TF binding region
LINC00638	TF binding region
RPS26P49	TF binding region
RPS2P4	TF binding region
ENSG00000258811	CpG island
LINC00638	CpG island
RPS26P49	CpG island
RPS2P4	CpG island
ENSG00000229947	chromatin interactions
ENSG00000142208	chromatin interactions
ENSG00000099814	chromatin interactions
ENSG00000258811	chromatin interactions
ENSG00000179627	chromatin interactions
ENSG00000184009	chromatin interactions
ENSG00000203485	chromatin interactions
ENSG00000184990	chromatin interactions
ENSG00000229848	chromatin interactions
ENSG00000185100	chromatin interactions
ENSG00000203499	chromatin interactions
ENSG00000258430	chromatin interactions
ENSG00000258701	chromatin interactions

Extended variants
information (count: 1011 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:1011 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10139525	chr14:105285159-105285160	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs369779213	chr14:105285166-105285167	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs564231939	chr14:105285170-105285171	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs139497017	chr14:105285196-105285197	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs117932691	chr14:105285212-105285213	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs73350371	chr14:105285220-105285221	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs35929620	chr14:105285257-105285258	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs181681932	chr14:105285268-105285269	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs559626926	chr14:105285327-105285328	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs528276543	chr14:105285389-105285390	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs187594769	chr14:105285393-105285394	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs571360684	chr14:105285397-105285398	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs537103977	chr14:105285409-105285410	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs10142116	chr14:105285423-105285424	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs116279653	chr14:105285438-105285439	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs115445184	chr14:105285439-105285440	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs555770018	chr14:105285443-105285444	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs190382136	chr14:105285458-105285459	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs534886228	chr14:105285510-105285511	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs181063212	chr14:105285528-105285529	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs569231896	chr14:105285530-105285531	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs149873822	chr14:105285643-105285644	Weak transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs74090053	chr14:105285685-105285686	Weak transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs563825345	chr14:105285708-105285709	Weak transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs573929923	chr14:105285760-105285761	Weak transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs543038862	chr14:105285814-105285815	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs372635477	chr14:105285848-105285849	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs145879808	chr14:105285875-105285876	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs373590311	chr14:105285899-105285900	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs528440801	chr14:105285914-105285915	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs149013068	chr14:105285950-105285951	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs548336580	chr14:105285973-105285974	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs565041569	chr14:105285976-105285977	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs142957648	chr14:105285978-105285979	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs151092472	chr14:105285979-105285980	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs141325367	chr14:105285984-105285985	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs74642003	chr14:105286024-105286025	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs377673043	chr14:105286025-105286026	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs145082225	chr14:105286048-105286049	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs12881654	chr14:105286064-105286065	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs117660461	chr14:105286082-105286083	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs551835180	chr14:105286103-105286104	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs185116816	chr14:105286134-105286135	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs528777463	chr14:105286143-105286144	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs189535698	chr14:105286145-105286146	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs117028357	chr14:105286166-105286167	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs537273851	chr14:105286185-105286186	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs182610586	chr14:105286212-105286213	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs2498805	chr14:105286243-105286244	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs185337818	chr14:105286281-105286282	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:107)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Congenital heart defect	22367666	CNVD
Developmental delay	22367666	CNVD
Genitourinary abnormalities	22367666	CNVD
Intellectual disability	22367666	CNVD
Microcephaly	22367666	CNVD
Muscularhypotonia	22367666	CNVD
Ocular coloboma	22367666	CNVD
Teratozoospermia	22367666	CNVD
Cervical cancer	21062161	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Breast cancer	16417655	CNVD
22q11 deletion syndrome	22511897	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Schizophrenia	21399695	CNVD
Intracranial ependymoma	16609018	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
14q deletion syndrome	22511897	CNVD
Epilepsy	22083797	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Cancer	17440070	CNVD
Neurocytoma	17123091	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Central neurocytomas	17123091	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Lung cancer	17086460	CNVD
Mortal	21835882	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	17426248	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
early-passage human iPS cells	21368824	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1073 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105283200-105287000	Weak transcription	Esophagus	oesophagus
2	chr14:105283200-105292200	Weak transcription	Gastric	stomach
3	chr14:105283400-105286800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr14:105283400-105286800	Weak transcription	HSMMtube	muscle
5	chr14:105283400-105286800	Weak transcription	HUVEC	blood vessel
6	chr14:105283400-105286800	Weak transcription	NH-A	brain
7	chr14:105283400-105287000	Weak transcription	Ovary	ovary
8	chr14:105283400-105287000	Weak transcription	Right Ventricle	heart
9	chr14:105283400-105287000	Weak transcription	NHLF	lung
10	chr14:105283400-105287200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr14:105283400-105287200	Weak transcription	Brain Anterior Caudate	brain
12	chr14:105283400-105287200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr14:105283400-105287200	Weak transcription	Stomach Mucosa	stomach
14	chr14:105283400-105287400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr14:105283400-105287400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr14:105283400-105292000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr14:105283400-105292000	Weak transcription	Right Atrium	heart
18	chr14:105283600-105285800	Weak transcription	Fetal Thymus	thymus
19	chr14:105283600-105286600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr14:105283600-105286800	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr14:105283600-105286800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr14:105283600-105286800	Weak transcription	HMEC	breast
23	chr14:105283600-105287000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr14:105283600-105287000	Weak transcription	Brain Hippocampus Middle	brain
25	chr14:105283600-105287000	Weak transcription	NHEK	skin
26	chr14:105283600-105287200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr14:105283600-105287200	Weak transcription	Colonic Mucosa	Colon
28	chr14:105283600-105287200	Weak transcription	Fetal Brain Male	brain
29	chr14:105283600-105287600	Weak transcription	Brain Angular Gyrus	brain
30	chr14:105283600-105288800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr14:105283600-105292000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr14:105283600-105292000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr14:105283800-105286800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr14:105283800-105287000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr14:105283800-105287000	Weak transcription	HSMM	muscle
36	chr14:105283800-105292000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr14:105283800-105292200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr14:105284000-105285200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
39	chr14:105284000-105286800	Weak transcription	Liver	Liver
40	chr14:105284000-105287000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr14:105284000-105287000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr14:105284000-105287000	Weak transcription	Placenta	Placenta
43	chr14:105284000-105287000	Weak transcription	Left Ventricle	heart
44	chr14:105284000-105287000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr14:105284000-105287400	Weak transcription	Rectal Smooth Muscle	rectum
46	chr14:105284000-105288000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr14:105284000-105288800	Weak transcription	Spleen	Spleen
48	chr14:105284000-105289400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr14:105284000-105292000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr14:105284200-105285200	ZNF genes & repeats	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links