Variant report

Variant	nsv1012682
Chromosome Location	chr3:46973552-47016357
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2061)
CpG islands
(count:428)
Chromatin interactive
region (count:107)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2061 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:46976932-46977220	K562	blood:	n/a	n/a
2	ARID3A	chr3:47011927-47012089	K562	blood:	n/a	n/a
3	ARID3A	chr3:46985004-46985837	HepG2	liver:	n/a	n/a
4	ARID3A	chr3:46977010-46977323	HepG2	liver:	n/a	n/a
5	ARID3A	chr3:47016208-47016563	HepG2	liver:	n/a	n/a
6	ARID3A	chr3:46988788-46988959	HepG2	liver:	n/a	n/a
7	ARID3A	chr3:47012021-47012509	HepG2	liver:	n/a	n/a
8	ARID3A	chr3:47013282-47013569	K562	blood:	n/a	n/a
9	ATF1	chr3:46976960-46977290	K562	blood:	n/a	n/a
10	ATF1	chr3:46989486-46990111	K562	blood:	n/a	n/a
11	ATF2	chr3:47013162-47013615	GM12878	blood:	n/a	n/a
12	ATF2	chr3:46997232-46997893	GM12878	blood:	n/a	n/a
13	ATF2	chr3:46973072-46973554	GM12878	blood:	n/a	n/a
14	ATF2	chr3:46994846-46995501	GM12878	blood:	n/a	n/a
15	ATF2	chr3:46976885-46977383	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF2	chr3:46976976-46977405	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF2	chr3:46994829-46995549	GM12878	blood:	n/a	n/a
18	ATF3	chr3:46976907-46977301	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF3	chr3:46989486-46990133	K562	blood:	n/a	n/a
20	ATF3	chr3:46976913-46977291	H1-hESC	embryonic stem cell:	n/a	n/a
21	ATF3	chr3:46976989-46977251	HepG2	liver:	n/a	n/a
22	ATF3	chr3:46976879-46977318	A549	lung:	n/a	n/a
23	ATF3	chr3:46988784-46989136	K562	blood:	n/a	n/a
24	ATF3	chr3:46976910-46977322	A549	lung:	n/a	n/a
25	ATF3	chr3:46976788-46977357	K562	blood:	n/a	n/a
26	ATF3	chr3:46976991-46977251	K562	blood:	n/a	n/a
27	ATF3	chr3:46984893-46985424	A549	lung:	n/a	n/a
28	BACH1	chr3:46977031-46977317	H1-hESC	embryonic stem cell:	n/a	chr3:46977129-46977143
29	BATF	chr3:46985051-46985394	GM12878	blood:	n/a	chr3:46985221-46985230
30	BCLAF1	chr3:46995097-46995852	GM12878	blood:	n/a	n/a
31	BCLAF1	chr3:47015943-47016370	GM12878	blood:	n/a	chr3:47016136-47016145
32	BCLAF1	chr3:46997182-46998074	GM12878	blood:	n/a	n/a
33	BHLHE40	chr3:46976906-46977259	K562	blood:	n/a	n/a
34	BHLHE40	chr3:46988733-46989099	K562	blood:	n/a	n/a
35	BHLHE40	chr3:46978734-46978780	A549	lung:	n/a	n/a
36	BHLHE40	chr3:47001837-47001972	GM12878	blood:	n/a	n/a
37	BHLHE40	chr3:46990575-46991036	GM12878	blood:	n/a	n/a
38	BHLHE40	chr3:46994944-46995590	GM12878	blood:	n/a	n/a
39	BHLHE40	chr3:46974353-46974431	K562	blood:	n/a	n/a
40	BHLHE40	chr3:46997214-46997910	GM12878	blood:	n/a	n/a
41	BHLHE40	chr3:47000588-47001131	GM12878	blood:	n/a	n/a
42	BHLHE40	chr3:47013283-47013487	K562	blood:	n/a	n/a
43	BHLHE40	chr3:46984988-46985606	HepG2	liver:	n/a	n/a
44	BHLHE40	chr3:46989512-46990308	K562	blood:	n/a	n/a
45	BHLHE40	chr3:46990537-46991072	K562	blood:	n/a	n/a
46	BHLHE40	chr3:47012063-47012116	K562	blood:	n/a	n/a
47	BHLHE40	chr3:46980344-46980642	GM12878	blood:	n/a	n/a
48	BHLHE40	chr3:47006719-47007008	GM12878	blood:	n/a	n/a
49	BRCA1	chr3:46989420-46990296	Hela-S3	cervix:	n/a	n/a
50	BRCA1	chr3:46974476-46974511	GM12878	blood:	n/a	n/a

(count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:47005092-47005142	NT2-D1	testis:	n/a
2	chr3:47005092-47005142	NT2-D1	testis:	n/a
3	chr3:47014492-47014542	HMEC	breast:	n/a
4	chr3:46996484-46996534	NHBE	bronchial:	n/a
5	chr3:47005092-47005142	NH-A	brain:	n/a
6	chr3:47005092-47005142	HCF	heart:	n/a
7	chr3:46990143-46990193	HRPEpiC	eye:	n/a
8	chr3:47014492-47014542	HPAEpiC	pulmonary alveolar:	n/a
9	chr3:47014492-47014542	NB4	blood:	n/a
10	chr3:46985840-46985890	MCF10A-Er-Src	breast:	n/a
11	chr3:46996484-46996534	HL-60	blood:	n/a
12	chr3:46990143-46990193	HEK293	kidney:	embryo
13	chr3:46996484-46996534	AG09309	skin:	n/a
14	chr3:46977532-46977582	T-47D	breast:	n/a
15	chr3:47014492-47014542	SKMC	muscle:	n/a
16	chr3:46990143-46990193	SK-N-SH	brain:	n/a
17	chr3:47005092-47005142	A549	lung:	n/a
18	chr3:46977532-46977582	U87	brain:	n/a
19	chr3:46974965-46975015	Hela-S3	cervix:	n/a
20	chr3:47014492-47014542	SK-N-SH	brain:	n/a
21	chr3:46996484-46996534	HEK293	kidney:	embryo
22	chr3:47014492-47014542	HIPEpiC	eye:	n/a
23	chr3:46974965-46975015	IMR90	lung:	fetal
24	chr3:47005092-47005142	K562	blood:	n/a
25	chr3:46985840-46985890	NHDF-neo	bronchial:	n/a
26	chr3:46985840-46985890	BE2_C	brain:	n/a
27	chr3:46990143-46990193	MCF10A-Er-Src	breast:	n/a
28	chr3:46996484-46996534	K562	blood:	n/a
29	chr3:47005092-47005142	H1-hESC	embryonic stem cell:	embryo
30	chr3:46974965-46975015	HAEpiC	amniotic membrane:	n/a
31	chr3:46974965-46975015	ECC-1	luminal epithelium:	n/a
32	chr3:46977532-46977582	IMR90	lung:	fetal
33	chr3:47014492-47014542	BJ	skin:	n/a
34	chr3:47005092-47005142	SKMC	muscle:	n/a
35	chr3:46990143-46990193	RPTEC	kidney:	n/a
36	chr3:47014492-47014542	HAEpiC	amniotic membrane:	n/a
37	chr3:46985840-46985890	GM06990	blood:	n/a
38	chr3:46974965-46975015	LNCaP	prostate:	n/a
39	chr3:46985840-46985890	PFSK-1	brain:	n/a
40	chr3:47005092-47005142	HCT-116	colon:	n/a
41	chr3:46996484-46996534	PANC-1	pancreas:	n/a
42	chr3:46977532-46977582	AoSMC	blood vessel:	n/a
43	chr3:46977532-46977582	ECC-1	luminal epithelium:	n/a
44	chr3:47005092-47005142	MCF10A-Er-Src	breast:	n/a
45	chr3:47005092-47005142	IMR90	lung:	fetal
46	chr3:46974965-46975015	GM12878	blood:	n/a
47	chr3:47014492-47014542	LNCaP	prostate:	n/a
48	chr3:46985840-46985890	AG04450	lung:	fetal
49	chr3:46977532-46977582	AG10803	skin:	n/a
50	chr3:46990143-46990193	CMK	blood:	n/a

(count:107 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr3:47011340..47013025-chr3:47015501..47017285,2	MCF-7	breast:
2	chr3:46964203..46969117-chr3:46974530..46977361,4	K562	blood:
3	chr3:46965569..46968989-chr3:46970425..46974513,5	MCF-7	breast:
4	chr3:46992711..46994503-chr3:47010548..47012316,2	K562	blood:
5	chr3:47000243..47004408-chr3:47018008..47023852,10	MCF-7	breast:
6	chr3:46964095..46966597-chr3:46971583..46973644,2	K562	blood:
7	chr3:46993850..46995776-chr3:46997950..47000879,2	MCF-7	breast:
8	chr3:46989186..46991293-chr3:47035849..47039529,3	K562	blood:
9	chr3:46997668..47000138-chr3:47008778..47011598,2	MCF-7	breast:
10	chr3:46988825..46991481-chr3:46997444..47000413,2	MCF-7	breast:
11	chr3:46987457..46990723-chr3:46999774..47002993,3	MCF-7	breast:
12	chr3:46971685..46974752-chr3:47019618..47022746,3	MCF-7	breast:
13	chr3:47007836..47011318-chr3:47011441..47014509,4	MCF-7	breast:
14	chr3:46983607..46987334-chr3:46993451..46998407,5	K562	blood:
15	chr3:46988825..46991481-chr3:46997444..47000413,2	MCF-7	breast:
16	chr3:46994661..46997196-chr3:47000542..47003538,2	MCF-7	breast:
17	chr3:46987136..46991583-chr3:47027983..47031367,6	K562	blood:
18	chr3:47001947..47004283-chr3:47011185..47013637,2	MCF-7	breast:
19	chr3:46971047..46973675-chr3:47000415..47002568,2	MCF-7	breast:
20	chr3:46979992..46983614-chr3:46988969..46991376,3	MCF-7	breast:
21	chr3:46995234..46997010-chr3:47011388..47013253,2	K562	blood:
22	chr3:46996489..46999843-chr3:47019877..47022356,3	MCF-7	breast:
23	chr3:46989810..46990729-chr4:6695069..6695746,2	Hela-S3	cervix:
24	chr3:47000442..47004800-chr3:47015859..47022252,7	K562	blood:
25	chr3:47011340..47013025-chr3:47015501..47017285,2	MCF-7	breast:
26	chr3:46989415..46991130-chr3:47009222..47011268,2	MCF-7	breast:
27	chr3:46973841..46975600-chr3:47001098..47002983,2	MCF-7	breast:
28	chr3:47000539..47004616-chr3:47005854..47010349,8	K562	blood:
29	chr3:46974607..46976308-chr3:47009636..47011674,2	K562	blood:
30	chr3:47000539..47004616-chr3:47005854..47010349,8	K562	blood:
31	chr3:46968433..46974874-chr3:46985986..46991697,10	MCF-7	breast:
32	chr3:46983771..46985594-chr3:46988811..46991272,2	MCF-7	breast:
33	chr3:46982362..46985242-chr3:47422135..47423747,2	MCF-7	breast:
34	chr3:46979851..46982380-chr3:47022307..47025277,2	MCF-7	breast:
35	chr3:46984582..46987726-chr3:46988178..46990594,3	K562	blood:
36	chr3:46978892..46980837-chr3:46982218..46984599,2	MCF-7	breast:
37	chr3:46971793..46974784-chr3:46975168..46977943,4	MCF-7	breast:
38	chr3:46966739..46968792-chr3:46972024..46974475,2	K562	blood:
39	chr3:46971793..46974784-chr3:46975168..46977943,4	MCF-7	breast:
40	chr3:46993850..46995776-chr3:46997950..47000879,2	MCF-7	breast:
41	chr3:46987488..46994423-chr3:47016253..47019914,6	MCF-7	breast:
42	chr3:46972031..46974044-chr3:46975427..46977474,2	K562	blood:
43	chr3:46942667..46944620-chr3:46986480..46988761,2	K562	blood:
44	chr3:46988617..46992704-chr3:46994196..46998366,6	K562	blood:
45	chr3:46971047..46973675-chr3:47000415..47002568,2	MCF-7	breast:
46	chr3:46968433..46974874-chr3:46985986..46991697,10	MCF-7	breast:
47	chr3:46993041..46995087-chr3:46996208..46998631,3	K562	blood:
48	chr3:46973841..46975600-chr3:47001098..47002983,2	MCF-7	breast:
49	chr3:46967009..46980239-chr3:47015804..47024437,23	MCF-7	breast:
50	chr3:46974607..46976308-chr3:47009636..47011674,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MYL3-1	chr3:46982488-46982555	NONHSAT089465

No data

Variant related genes	Relation type
NBEAL2	TF binding region
NBEAL2	CpG island
ENSG00000160801	chromatin interactions
ENSG00000160796	chromatin interactions
ENSG00000163993	chromatin interactions
ENSG00000178038	chromatin interactions
ENSG00000260236	chromatin interactions
ENSG00000160799	chromatin interactions
ENSG00000076201	chromatin interactions
ENSG00000181555	chromatin interactions
ENSG00000227398	chromatin interactions

Extended variants
information (count: 1571 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:1571 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77178871	chr3:46973571-46973572	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs569510194	chr3:46973609-46973610	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs9841902	chr3:46973644-46973645	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs572542069	chr3:46973650-46973651	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs187541313	chr3:46973668-46973669	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs561521770	chr3:46973671-46973672	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs4683297	chr3:46973673-46973674	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs192578276	chr3:46973721-46973722	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs185036412	chr3:46973779-46973780	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs188793387	chr3:46973805-46973806	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs547572576	chr3:46973818-46973819	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs4683296	chr3:46973820-46973821	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs533692545	chr3:46973822-46973823	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs192635456	chr3:46973860-46973861	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs376435770	chr3:46974036-46974037	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs7645278	chr3:46974100-46974101	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs73831411	chr3:46974160-46974161	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs577560219	chr3:46974169-46974170	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs7623898	chr3:46974172-46974173	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs553549340	chr3:46974200-46974201	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs141144316	chr3:46974201-46974202	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs543218255	chr3:46974235-46974236	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs13327163	chr3:46974270-46974271	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs576844658	chr3:46974319-46974320	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs544107274	chr3:46974441-46974442	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs185067789	chr3:46974461-46974462	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs532362352	chr3:46974612-46974613	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs547872289	chr3:46974693-46974694	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs559558951	chr3:46974753-46974754	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs576806016	chr3:46974759-46974760	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs544675744	chr3:46974834-46974835	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs567099988	chr3:46974870-46974871	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs537792246	chr3:46974932-46974933	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs537996824	chr3:46974941-46974942	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs556232059	chr3:46974978-46974979	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs188719218	chr3:46975010-46975011	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs116771490	chr3:46975029-46975030	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs11130108	chr3:46975050-46975051	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs553856047	chr3:46975156-46975157	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs59614145	chr3:46975169-46975170	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs536338138	chr3:46975235-46975236	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs58297171	chr3:46975254-46975255	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs375948551	chr3:46975270-46975271	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs59846120	chr3:46975301-46975302	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs17079313	chr3:46975317-46975318	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs567727484	chr3:46975380-46975381	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs558938817	chr3:46975382-46975383	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs375733355	chr3:46975415-46975416	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs538904710	chr3:46975416-46975417	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs35148258	chr3:46975417-46975418	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Breast cancer	21509527	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute myeloid leukemia	17268525	CNVD
Salivary gland tumor	18059337	CNVD
Gastric cancer	16891809	CNVD
Night blindness	17160897	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Lung cancer	17297452	CNVD
Multiple myeloma	16616336	CNVD
Effusion lymphoma	18079361	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:2873 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46964600-46975600	Weak transcription	Fetal Brain Male	brain
2	chr3:46967400-46974600	Enhancers	HSMMtube	muscle
3	chr3:46967400-46975800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:46967400-46976000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr3:46967400-46976400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr3:46967400-46984400	Genic enhancers	Fetal Intestine Small	intestine
7	chr3:46967800-46976400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr3:46968000-46978800	Enhancers	Stomach Mucosa	stomach
9	chr3:46968400-46975800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr3:46968400-46976600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr3:46968400-46977600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr3:46968600-46975400	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr3:46969200-46976600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr3:46969200-46976600	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr3:46969400-46973800	Enhancers	Primary B cells from peripheral blood	blood
16	chr3:46969400-46974400	Enhancers	Colonic Mucosa	Colon
17	chr3:46969400-46978400	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr3:46969600-46977400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr3:46970200-46976800	Enhancers	Brain Hippocampus Middle	brain
20	chr3:46970200-46978600	Enhancers	Right Ventricle	heart
21	chr3:46970400-46973600	Weak transcription	Fetal Brain Female	brain
22	chr3:46970400-46976400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr3:46970400-46977600	Enhancers	Liver	Liver
24	chr3:46970400-46977800	Enhancers	Pancreas	Pancrea
25	chr3:46970600-46975000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr3:46970600-46975200	Enhancers	Primary hematopoietic stem cells	blood
27	chr3:46970600-46977600	Enhancers	Brain Angular Gyrus	brain
28	chr3:46970800-46974200	Enhancers	Aorta	Aorta
29	chr3:46970800-46975800	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr3:46970800-46976200	Enhancers	Spleen	Spleen
31	chr3:46970800-46977400	Enhancers	Placenta	Placenta
32	chr3:46970800-46977600	Enhancers	Left Ventricle	heart
33	chr3:46970800-46977600	Enhancers	Lung	lung
34	chr3:46970800-46977800	Enhancers	NHDF-Ad	bronchial
35	chr3:46970800-46979400	Enhancers	HUVEC	blood vessel
36	chr3:46970800-46984200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr3:46971000-46974200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr3:46971000-46975800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr3:46971000-46976000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr3:46971200-46975800	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr3:46971200-46976200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr3:46971200-46976800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr3:46971200-46988400	Strong transcription	Dnd41	blood
44	chr3:46971400-46977600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr3:46971600-46973800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr3:46971600-46974600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr3:46971600-46975800	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr3:46971600-46976800	Enhancers	Fetal Lung	lung
49	chr3:46971600-46977400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr3:46971600-46977800	Enhancers	Esophagus	oesophagus

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