Variant report

Variant	nsv542219
Chromosome Location	chr14:104787551-104908282
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	ATF2	chr14:104853315-104853690	GM12878	blood:	n/a	n/a
2	BATF	chr14:104882766-104882975	GM12878	blood:	n/a	chr14:104882870-104882881
3	BATF	chr14:104873533-104873737	GM12878	blood:	n/a	chr14:104873580-104873591 chr14:104873618-104873629
4	BATF	chr14:104853348-104853593	GM12878	blood:	n/a	n/a
5	BATF	chr14:104873436-104873767	GM12878	blood:	n/a	chr14:104873580-104873591 chr14:104873618-104873629
6	BCL11A	chr14:104853356-104853621	GM12878	blood:	n/a	chr14:104853461-104853470
7	BCL3	chr14:104850568-104850914	GM12878	blood:	n/a	chr14:104850648-104850657
8	BCL3	chr14:104790507-104790824	GM12878	blood:	n/a	n/a
9	BCL3	chr14:104906905-104907311	GM12878	blood:	n/a	n/a
10	BCL3	chr14:104792253-104792517	GM12878	blood:	n/a	n/a
11	BCL3	chr14:104853374-104853619	GM12878	blood:	n/a	chr14:104853461-104853470
12	BCL3	chr14:104850572-104850917	GM12878	blood:	n/a	chr14:104850648-104850657
13	BCL3	chr14:104906971-104907201	GM12878	blood:	n/a	n/a
14	BCL3	chr14:104792028-104792354	GM12878	blood:	n/a	n/a
15	BCLAF1	chr14:104853385-104853683	GM12878	blood:	n/a	chr14:104853461-104853470
16	BHLHE40	chr14:104789191-104789192	K562	blood:	n/a	n/a
17	BHLHE40	chr14:104891140-104891268	GM12878	blood:	n/a	n/a
18	BHLHE40	chr14:104811665-104811782	GM12878	blood:	n/a	n/a
19	BHLHE40	chr14:104811740-104811940	HepG2	liver:	n/a	n/a
20	BHLHE40	chr14:104891142-104891342	K562	blood:	n/a	n/a
21	CBX3	chr14:104808070-104808820	HCT-116	colon:	n/a	n/a
22	CEBPB	chr14:104836980-104837263	A549	lung:	n/a	n/a
23	CEBPB	chr14:104862635-104863004	MCF-7	breast:	n/a	chr14:104862810-104862823
24	CEBPB	chr14:104862673-104862964	HepG2	liver:	n/a	chr14:104862810-104862823
25	CEBPB	chr14:104862743-104862899	A549	lung:	n/a	chr14:104862810-104862823
26	CEBPB	chr14:104862712-104862901	Hela-S3	cervix:	n/a	chr14:104862810-104862823
27	CEBPB	chr14:104837024-104837262	HepG2	liver:	n/a	n/a
28	CEBPB	chr14:104862645-104863007	H1-hESC	embryonic stem cell:	n/a	chr14:104862810-104862823
29	CEBPB	chr14:104817900-104818104	HepG2	liver:	n/a	chr14:104818065-104818076
30	CHD2	chr14:104808370-104808676	Hela-S3	cervix:	n/a	n/a
31	CHD2	chr14:104808207-104808588	H1-hESC	embryonic stem cell:	n/a	n/a
32	CHD2	chr14:104836616-104836682	H1-hESC	embryonic stem cell:	n/a	n/a
33	CREB1	chr14:104808384-104808562	A549	lung:	n/a	n/a
34	CREB1	chr14:104886313-104886828	GM12878	blood:	n/a	n/a
35	CREB1	chr14:104886256-104886838	GM12878	blood:	n/a	n/a
36	CTCF	chr14:104808380-104808530	HBMEC	blood vessel:	n/a	chr14:104808472-104808488 chr14:104808480-104808493 chr14:104808478-104808486 chr14:104808466-104808487 chr14:104808471-104808489 chr14:104808473-104808486
37	CTCF	chr14:104836672-104836902	GM12892	blood:	n/a	chr14:104836752-104836773 chr14:104836759-104836772 chr14:104836789-104836797 chr14:104836757-104836775 chr14:104836758-104836774
38	CTCF	chr14:104798286-104798489	K562	blood:	n/a	n/a
39	CTCF	chr14:104836666-104836918	A549	lung:	n/a	chr14:104836752-104836773 chr14:104836893-104836906 chr14:104836759-104836772 chr14:104836789-104836797 chr14:104836757-104836775 chr14:104836758-104836774
40	CTCF	chr14:104836700-104836850	K562	blood:	n/a	chr14:104836752-104836773 chr14:104836759-104836772 chr14:104836789-104836797 chr14:104836757-104836775 chr14:104836758-104836774
41	CTCF	chr14:104808380-104808530	GM12878	blood:	n/a	chr14:104808472-104808488 chr14:104808480-104808493 chr14:104808478-104808486 chr14:104808466-104808487 chr14:104808471-104808489 chr14:104808473-104808486
42	CTCF	chr14:104811720-104811870	Caco-2	colon:	n/a	chr14:104811805-104811813
43	CTCF	chr14:104798360-104798510	GM12868	blood:	n/a	n/a
44	CTCF	chr14:104808400-104808550	GM12868	blood:	n/a	chr14:104808472-104808488 chr14:104808480-104808493 chr14:104808478-104808486 chr14:104808466-104808487 chr14:104808471-104808489 chr14:104808473-104808486
45	CTCF	chr14:104808340-104808490	HPAF	blood vessel:	n/a	chr14:104808472-104808488 chr14:104808478-104808486 chr14:104808466-104808487 chr14:104808471-104808489 chr14:104808473-104808486
46	CTCF	chr14:104836680-104836830	HepG2	liver:	n/a	chr14:104836752-104836773 chr14:104836759-104836772 chr14:104836789-104836797 chr14:104836757-104836775 chr14:104836758-104836774
47	CTCF	chr14:104902260-104902410	HepG2	liver:	n/a	n/a
48	CTCF	chr14:104836659-104836887	Spleen_OC	spleen:	n/a	chr14:104836752-104836773 chr14:104836759-104836772 chr14:104836789-104836797 chr14:104836757-104836775 chr14:104836758-104836774
49	CTCF	chr14:104887154-104887218	GM20000	blood:	n/a	n/a
50	CTCF	chr14:104808058-104808760	HCT-116	colon:	n/a	chr14:104808472-104808488 chr14:104808480-104808493 chr14:104808478-104808486 chr14:104808466-104808487 chr14:104808471-104808489 chr14:104808473-104808486

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:104803942-104803992	NB4	blood:	n/a
2	chr14:104803942-104803992	NB4	blood:	n/a
3	chr14:104852775-104852825	BJ	skin:	n/a
4	chr14:104896090-104896140	AG04449	skin:	fetal
5	chr14:104799486-104799536	Caco-2	colon:	n/a
6	chr14:104862559-104862609	HCM	heart:	n/a
7	chr14:104896758-104896808	Jurkat	blood:	n/a
8	chr14:104800568-104800618	HRPEpiC	eye:	n/a
9	chr14:104800746-104800796	Hela-S3	cervix:	n/a
10	chr14:104800976-104801026	Caco-2	colon:	n/a
11	chr14:104870666-104870716	Hepatocyte	liver:	n/a
12	chr14:104866636-104866686	Jurkat	blood:	n/a
13	chr14:104862680-104862730	HRE	kidney:	n/a
14	chr14:104851903-104851953	PFSK-1	brain:	n/a
15	chr14:104800976-104801026	HepG2	liver:	n/a
16	chr14:104808652-104808702	LNCaP	prostate:	n/a
17	chr14:104834292-104834342	HRE	kidney:	n/a
18	chr14:104808516-104808566	Caco-2	colon:	n/a
19	chr14:104789524-104789574	HCM	heart:	n/a
20	chr14:104789524-104789574	ProgFib	skin:	n/a
21	chr14:104852706-104852756	BJ	skin:	n/a
22	chr14:104866284-104866334	HPAEpiC	pulmonary alveolar:	n/a
23	chr14:104854790-104854840	AG09319	gingival:	n/a
24	chr14:104854940-104854990	HCM	heart:	n/a
25	chr14:104896488-104896538	Caco-2	colon:	n/a
26	chr14:104862559-104862609	RPTEC	kidney:	n/a
27	chr14:104842040-104842090	NHDF-neo	bronchial:	n/a
28	chr14:104896488-104896538	HRE	kidney:	n/a
29	chr14:104870666-104870716	HIPEpiC	eye:	n/a
30	chr14:104851832-104851882	NH-A	brain:	n/a
31	chr14:104854940-104854990	H1-hESC	embryonic stem cell:	embryo
32	chr14:104866284-104866334	GM12892	blood:	n/a
33	chr14:104851903-104851953	HRE	kidney:	n/a
34	chr14:104896488-104896538	IMR90	lung:	fetal
35	chr14:104856500-104856550	HRPEpiC	eye:	n/a
36	chr14:104799486-104799536	HRCEpiC	kidney:	n/a
37	chr14:104851832-104851882	GM06990	blood:	n/a
38	chr14:104865792-104865842	SK-N-SH_RA	brain:	n/a
39	chr14:104852641-104852691	NT2-D1	testis:	n/a
40	chr14:104897608-104897658	HIPEpiC	eye:	n/a
41	chr14:104862680-104862730	GM12892	blood:	n/a
42	chr14:104889116-104889166	HCT-116	colon:	n/a
43	chr14:104824167-104824217	HCM	heart:	n/a
44	chr14:104834351-104834401	HRPEpiC	eye:	n/a
45	chr14:104787656-104787706	T-47D	breast:	n/a
46	chr14:104837363-104837413	MCF10A-Er-Src	breast:	n/a
47	chr14:104852775-104852825	GM12891	blood:	n/a
48	chr14:104896758-104896808	HL-60	blood:	n/a
49	chr14:104854940-104854990	IMR90	lung:	fetal
50	chr14:104897068-104897118	HCM	heart:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:104894876..104896838-chr14:104897650..104900830,3	MCF-7	breast:
2	chr14:104654764..104655392-chr14:104812527..104813058,2	MCF-7	breast:
3	chr14:104634157..104636948-chr14:104811497..104813606,2	MCF-7	breast:
4	chr14:104890275..104892805-chr14:104894264..104895980,2	MCF-7	breast:
5	chr14:104846626..104850072-chr14:104851431..104854716,4	MCF-7	breast:
6	chr14:104808000..104808682-chr3:120279791..120280680,2	MCF-7	breast:
7	chr14:104862114..104865269-chr14:104866594..104868712,3	MCF-7	breast:
8	chr14:104902006..104903971-chr14:104906199..104909973,3	MCF-7	breast:
9	chr14:104809922..104812049-chr14:104902257..104904031,2	MCF-7	breast:
10	chr14:104860512..104862041-chr14:104863587..104866008,2	K562	blood:
11	chr14:104890951..104893457-chr14:104909378..104911636,2	MCF-7	breast:
12	chr14:104824690..104827500-chr14:105019187..105021176,2	MCF-7	breast:
13	chr14:104809922..104812049-chr14:104902257..104904031,2	MCF-7	breast:
14	chr14:104890913..104893677-chr14:104894092..104896751,2	MCF-7	breast:
15	chr14:104837762..104840619-chr14:104842293..104845118,2	MCF-7	breast:
16	chr14:104604293..104606398-chr14:104806693..104809135,2	MCF-7	breast:
17	chr14:104803247..104805895-chr14:104810944..104812693,2	MCF-7	breast:
18	chr14:104812965..104815337-chr14:104815556..104818475,2	MCF-7	breast:
19	chr14:104575835..104578265-chr14:104818122..104819690,2	MCF-7	breast:
20	chr14:104820971..104823040-chr14:104824214..104826295,2	MCF-7	breast:
21	chr14:104841247..104842926-chr14:104851671..104854407,2	MCF-7	breast:
22	chr14:104572503..104574382-chr14:104808640..104810339,2	MCF-7	breast:
23	chr14:104808040..104808889-chr14:104836311..104836990,2	MCF-7	breast:
24	chr14:104820148..104824002-chr14:104833372..104835893,3	MCF-7	breast:
25	chr14:104898141..104899816-chr14:104900937..104903488,2	MCF-7	breast:
26	chr14:104803247..104805895-chr14:104810944..104812693,2	MCF-7	breast:
27	chr14:104898141..104899816-chr14:104900937..104903488,2	MCF-7	breast:
28	chr14:104907597..104909438-chr14:105077013..105079589,2	K562	blood:
29	chr14:104852349..104854257-chr14:104854522..104857044,2	MCF-7	breast:
30	chr14:104820971..104823040-chr14:104824214..104826295,2	MCF-7	breast:
31	chr14:104810513..104812777-chr14:104821342..104823710,2	MCF-7	breast:
32	chr14:104907745..104909314-chr14:105070369..105072440,2	MCF-7	breast:
33	chr14:104893761..104895389-chr14:104914243..104917076,2	MCF-7	breast:
34	chr14:104842421..104844937-chr14:104846124..104848778,2	K562	blood:
35	chr14:104808137..104810517-chr14:104838226..104840189,2	MCF-7	breast:
36	chr14:104596286..104598130-chr14:104827828..104829835,2	MCF-7	breast:
37	chr14:104828202..104830108-chr14:104833873..104835498,2	K562	blood:
38	chr14:104792609..104796456-chr14:104799877..104802767,4	MCF-7	breast:
39	chr14:104852349..104854257-chr14:104854522..104857044,2	MCF-7	breast:
40	chr14:104816456..104819206-chr14:104822482..104825637,3	MCF-7	breast:
41	chr14:104846626..104850072-chr14:104851431..104854716,4	MCF-7	breast:
42	chr14:104860512..104862041-chr14:104863587..104866008,2	K562	blood:
43	chr14:104694371..104697146-chr14:104809063..104811864,2	MCF-7	breast:
44	chr14:104827640..104830097-chr14:104849702..104851434,2	MCF-7	breast:
45	chr14:104810225..104812544-chr14:104838511..104840510,3	MCF-7	breast:
46	chr14:104808040..104808889-chr14:104836311..104836990,2	MCF-7	breast:
47	chr14:104836319..104836837-chr17:75319729..75320230,2	MCF-7	breast:
48	chr14:104894876..104896838-chr14:104897650..104900830,3	MCF-7	breast:
49	chr14:104772029..104774740-chr14:104807798..104809607,2	K562	blood:
50	chr14:104797978..104799771-chr14:104802827..104805475,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-614O9.3.1-2	chr14:104828079-104828393	NONHSAT040256
2	lnc-RP11-614O9.3.1-2	chr14:104824919-104825367	NONHSAT040256
3	lnc-RP11-614O9.3.1-1	chr14:104845218-104845288	ENSG00000258598
4	lnc-RP11-614O9.3.1-1	chr14:104842867-104843033	ENSG00000258598
5	lnc-RP11-614O9.3.1-1	chr14:104843878-104844157	ENSG00000258598

Variant related genes	Relation type
RNU6-684P	TF binding region
ENSG00000258598	TF binding region
RNU6-684P	CpG island
ENSG00000258598	CpG island
ENSG00000222761	chromatin interactions
ENSG00000184640	chromatin interactions
ENSG00000258598	chromatin interactions
ENSG00000166183	chromatin interactions
ENSG00000258748	chromatin interactions
ENSG00000258986	chromatin interactions
ENSG00000066735	chromatin interactions

Extended variants
information (count: 5139 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:5139 , 50 per page) page: 1 2 3 4 5 6 7 ... 103

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533999687	chr14:104787580-104787581	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs553955031	chr14:104787598-104787599	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs568815432	chr14:104787603-104787604	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs76855673	chr14:104787616-104787617	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539602907	chr14:104787641-104787642	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547449466	chr14:104787657-104787658	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112098490	chr14:104787666-104787667	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375423190	chr14:104787672-104787673	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371358822	chr14:104787673-104787674	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576359033	chr14:104787674-104787675	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112509489	chr14:104787675-104787676	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555367713	chr14:104787686-104787687	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572127469	chr14:104787731-104787732	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs7161239	chr14:104787760-104787761	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs564195179	chr14:104787763-104787764	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577406664	chr14:104787764-104787765	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189051689	chr14:104787767-104787768	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562844055	chr14:104787768-104787769	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145254171	chr14:104787771-104787772	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs11160803	chr14:104787797-104787798	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs35620315	chr14:104787825-104787826	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs561907148	chr14:104787832-104787833	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs4636848	chr14:104787848-104787849	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs547608580	chr14:104787876-104787877	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs570913618	chr14:104787913-104787914	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs535332212	chr14:104787914-104787915	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs539649464	chr14:104787926-104787927	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs549961841	chr14:104787932-104787933	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs117647069	chr14:104787957-104787958	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs370532770	chr14:104787962-104787963	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs191547823	chr14:104787971-104787972	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs555681236	chr14:104788003-104788004	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs374432478	chr14:104788009-104788010	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs571983245	chr14:104788041-104788042	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs75987633	chr14:104788056-104788057	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs557616833	chr14:104788057-104788058	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs375324689	chr14:104788062-104788063	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs530160053	chr14:104788086-104788087	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs367938078	chr14:104788169-104788170	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs562705171	chr14:104788175-104788176	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs576347558	chr14:104788176-104788177	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs77305759	chr14:104788186-104788187	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs562389423	chr14:104788200-104788201	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs559090153	chr14:104788203-104788204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577394024	chr14:104788204-104788205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531456955	chr14:104788205-104788206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564433390	chr14:104788214-104788215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533431910	chr14:104788219-104788220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550022674	chr14:104788222-104788223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569895038	chr14:104788236-104788237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	20932292	CNVD

Chromatin state (count:1040 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104783800-104789400	Enhancers	Fetal Lung	lung
2	chr14:104784600-104787800	Weak transcription	Spleen	Spleen
3	chr14:104786400-104788200	Enhancers	Brain Germinal Matrix	brain
4	chr14:104786800-104788000	Bivalent Enhancer	Right Ventricle	heart
5	chr14:104786800-104793200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:104787000-104787600	Enhancers	Fetal Brain Male	brain
7	chr14:104787000-104787800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr14:104787000-104787800	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr14:104787000-104787800	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr14:104787000-104788000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr14:104787000-104788000	Bivalent Enhancer	Fetal Stomach	stomach
12	chr14:104787000-104788000	Enhancers	Left Ventricle	heart
13	chr14:104787000-104788200	Bivalent Enhancer	Placenta	Placenta
14	chr14:104787000-104788400	Enhancers	Lung	lung
15	chr14:104787200-104787600	Flanking Active TSS	Ovary	ovary
16	chr14:104787200-104787800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr14:104787200-104787800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr14:104787200-104788000	Enhancers	Fetal Heart	heart
19	chr14:104787400-104787800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr14:104787400-104787800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr14:104787600-104787800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
22	chr14:104787600-104788000	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
23	chr14:104787600-104788200	Enhancers	Ovary	ovary
24	chr14:104787600-104789200	Weak transcription	Fetal Brain Male	brain
25	chr14:104787800-104788000	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
26	chr14:104787800-104788000	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr14:104787800-104788400	Enhancers	Spleen	Spleen
28	chr14:104788000-104789200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr14:104788200-104788600	Weak transcription	Brain Germinal Matrix	brain
30	chr14:104788400-104792000	Weak transcription	Spleen	Spleen
31	chr14:104788600-104790000	Enhancers	Brain Germinal Matrix	brain
32	chr14:104788800-104789600	Bivalent Enhancer	Fetal Stomach	stomach
33	chr14:104788800-104789600	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
34	chr14:104789000-104789200	Bivalent Enhancer	Brain Anterior Caudate	brain
35	chr14:104789000-104789200	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
36	chr14:104789200-104789400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:104789200-104789400	Enhancers	Brain Anterior Caudate	brain
38	chr14:104789200-104789400	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr14:104789200-104790200	Enhancers	Fetal Brain Male	brain
40	chr14:104789200-104790800	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr14:104789400-104789600	Bivalent Enhancer	Colonic Mucosa	Colon
42	chr14:104789400-104789600	Enhancers	Fetal Intestine Small	intestine
43	chr14:104789400-104789800	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr14:104789400-104790200	Enhancers	Duodenum Mucosa	Duodenum
45	chr14:104789400-104790600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr14:104789600-104790000	Enhancers	Colonic Mucosa	Colon
47	chr14:104789600-104790000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
48	chr14:104789800-104790200	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr14:104790000-104790200	Flanking Active TSS	Colonic Mucosa	Colon
50	chr14:104790000-104790400	Enhancers	Rectal Mucosa Donor 29	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links