Variant report

Variant	nsv1007674
Chromosome Location	chr1:144948956-145069306
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3960)
CpG islands
(count:2321)
Chromatin interactive
region (count:254)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3960 , 50 per page) page: 1 2 3 4 5 6 7 ... 80

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:145000157-145004850	K562	blood:	n/a	chr1:145001553-145001569 chr1:145004748-145004764
2	ARID3A	chr1:145012025-145018939	K562	blood:	n/a	chr1:145012568-145012584 chr1:145012567-145012583
3	ARID3A	chr1:145023275-145025964	K562	blood:	n/a	n/a
4	ARID3A	chr1:145027372-145031947	K562	blood:	n/a	n/a
5	ARID3A	chr1:145007845-145011203	K562	blood:	n/a	n/a
6	ARID3A	chr1:145039806-145040082	HepG2	liver:	n/a	n/a
7	ARID3A	chr1:144991522-144993662	K562	blood:	n/a	n/a
8	ARID3A	chr1:144994237-144996744	K562	blood:	n/a	n/a
9	ARID3A	chr1:145061354-145062417	K562	blood:	n/a	n/a
10	ARID3A	chr1:145014466-145014972	HepG2	liver:	n/a	n/a
11	ARID3A	chr1:145005457-145007401	K562	blood:	n/a	n/a
12	ARID3A	chr1:144997084-144999662	K562	blood:	n/a	n/a
13	ARID3A	chr1:144988785-144990011	HepG2	liver:	n/a	n/a
14	ARID3A	chr1:145040051-145040226	K562	blood:	n/a	n/a
15	ARID3A	chr1:144989106-144991213	K562	blood:	n/a	n/a
16	ARID3A	chr1:145040639-145043538	K562	blood:	n/a	n/a
17	ARID3A	chr1:145058588-145061058	K562	blood:	n/a	n/a
18	ARID3A	chr1:145054062-145056297	K562	blood:	n/a	chr1:145054435-145054451 chr1:145054273-145054289 chr1:145054272-145054288 chr1:145054436-145054452
19	ATF1	chr1:145054709-145055914	K562	blood:	n/a	n/a
20	ATF1	chr1:144988840-144990055	K562	blood:	n/a	n/a
21	ATF1	chr1:145018078-145018857	K562	blood:	n/a	n/a
22	ATF1	chr1:145068286-145068723	K562	blood:	n/a	n/a
23	ATF1	chr1:145042745-145043636	K562	blood:	n/a	n/a
24	ATF1	chr1:145014382-145016089	K562	blood:	n/a	n/a
25	ATF1	chr1:145037166-145037364	K562	blood:	n/a	n/a
26	ATF1	chr1:145012108-145014066	K562	blood:	n/a	n/a
27	ATF1	chr1:145023255-145025928	K562	blood:	n/a	n/a
28	ATF1	chr1:144994316-144996366	K562	blood:	n/a	n/a
29	ATF1	chr1:145027502-145029034	K562	blood:	n/a	n/a
30	ATF1	chr1:145008736-145009963	K562	blood:	n/a	n/a
31	ATF1	chr1:145032820-145034366	K562	blood:	n/a	n/a
32	ATF1	chr1:145020634-145021790	K562	blood:	n/a	n/a
33	ATF1	chr1:144997529-144998431	K562	blood:	n/a	n/a
34	ATF1	chr1:145001703-145004761	K562	blood:	n/a	n/a
35	ATF1	chr1:145029752-145031659	K562	blood:	n/a	n/a
36	ATF1	chr1:145058458-145062743	K562	blood:	n/a	n/a
37	ATF1	chr1:144991677-144992162	K562	blood:	n/a	n/a
38	ATF1	chr1:144998715-144999351	K562	blood:	n/a	n/a
39	ATF2	chr1:145039150-145040178	H1-hESC	embryonic stem cell:	n/a	n/a
40	ATF2	chr1:145039273-145040693	H1-hESC	embryonic stem cell:	n/a	n/a
41	ATF2	chr1:145058834-145059345	H1-hESC	embryonic stem cell:	n/a	n/a
42	ATF3	chr1:145044953-145045240	K562	blood:	n/a	n/a
43	ATF3	chr1:145009033-145010014	K562	blood:	n/a	n/a
44	ATF3	chr1:145003959-145004695	K562	blood:	n/a	n/a
45	ATF3	chr1:145014931-145015525	K562	blood:	n/a	n/a
46	ATF3	chr1:145042741-145043201	K562	blood:	n/a	n/a
47	ATF3	chr1:144997011-144998557	K562	blood:	n/a	n/a
48	ATF3	chr1:145063016-145063408	H1-hESC	embryonic stem cell:	n/a	n/a
49	BACH1	chr1:145027218-145031553	K562	blood:	n/a	chr1:145028335-145028349
50	BACH1	chr1:145017887-145019078	K562	blood:	n/a	n/a

(count:2321 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:144994715-144994765	MCF-7	breast:	n/a
2	chr1:145039929-145039979	Hela-S3	cervix:	n/a
3	chr1:144994826-144994876	PANC-1	pancreas:	n/a
4	chr1:144994715-144994765	MCF-7	breast:	n/a
5	chr1:145039929-145039979	Hela-S3	cervix:	n/a
6	chr1:144994826-144994876	PANC-1	pancreas:	n/a
7	chr1:145036025-145036075	HCM	heart:	n/a
8	chr1:144995682-144995732	HEEpiC	esophagus:	n/a
9	chr1:144995889-144995939	SK-N-SH_RA	brain:	n/a
10	chr1:144998869-144998919	IMR90	lung:	fetal
11	chr1:145021703-145021753	SK-N-MC	brain:	n/a
12	chr1:145039929-145039979	IMR90	lung:	fetal
13	chr1:145042811-145042861	NB4	blood:	n/a
14	chr1:144998869-144998919	NHBE	bronchial:	n/a
15	chr1:145023679-145023729	NH-A	brain:	n/a
16	chr1:145028465-145028515	NHBE	bronchial:	n/a
17	chr1:145035112-145035162	ECC-1	luminal epithelium:	n/a
18	chr1:145039893-145039943	Caco-2	colon:	n/a
19	chr1:144994318-144994368	HPAEpiC	pulmonary alveolar:	n/a
20	chr1:144995682-144995732	PANC-1	pancreas:	n/a
21	chr1:144994715-144994765	RPTEC	kidney:	n/a
22	chr1:145040160-145040210	H1-hESC	embryonic stem cell:	embryo
23	chr1:144994542-144994592	AG09319	gingival:	n/a
24	chr1:145013480-145013530	BJ	skin:	n/a
25	chr1:145004468-145004518	AG10803	skin:	n/a
26	chr1:145040506-145040556	Hela-S3	cervix:	n/a
27	chr1:144994933-144994983	AG09309	skin:	n/a
28	chr1:145012822-145012872	SK-N-MC	brain:	n/a
29	chr1:145039929-145039979	NH-A	brain:	n/a
30	chr1:144994542-144994592	NT2-D1	testis:	n/a
31	chr1:145033094-145033144	Jurkat	blood:	n/a
32	chr1:145017064-145017114	BE2_C	brain:	n/a
33	chr1:145001340-145001390	Caco-2	colon:	n/a
34	chr1:145035112-145035162	HRPEpiC	eye:	n/a
35	chr1:144995682-144995732	H1-hESC	embryonic stem cell:	embryo
36	chr1:144989624-144989674	SAEC	small airway:	n/a
37	chr1:145021703-145021753	HCPEpiC	choroid plexus:	n/a
38	chr1:144995101-144995151	HNPCEpiC	eye:	n/a
39	chr1:145039929-145039979	AoSMC	blood vessel:	n/a
40	chr1:144952173-144952223	GM12891	blood:	n/a
41	chr1:144994933-144994983	NB4	blood:	n/a
42	chr1:145054779-145054829	ProgFib	skin:	n/a
43	chr1:145023679-145023729	ProgFib	skin:	n/a
44	chr1:145021703-145021753	GM12891	blood:	n/a
45	chr1:145033094-145033144	HPAEpiC	pulmonary alveolar:	n/a
46	chr1:145004305-145004355	Hela-S3	cervix:	n/a
47	chr1:144998869-144998919	ECC-1	luminal epithelium:	n/a
48	chr1:145039741-145039791	HCT-116	colon:	n/a
49	chr1:144989624-144989674	HAEpiC	amniotic membrane:	n/a
50	chr1:144994826-144994876	Caco-2	colon:	n/a

(count:254 , 50 per page) page: 1 2 3 4 5 6

No.	Distal block	Cell Line	Cell type
1	chr1:145024379..145028035-chr1:145095540..145100170,5	K562	blood:
2	chr1:145003130..145005875-chr1:149855420..149857105,2	K562	blood:
3	chr1:144991810..144992601-chr1:145058676..145059206,2	K562	blood:
4	chr1:145003631..145004191-chr1:145014605..145015136,2	K562	blood:
5	chr1:145013743..145015162-chr1:145058558..145059809,20	MCF-7	breast:
6	chr1:145023266..145026073-chr1:145059016..145061272,2	MCF-7	breast:
7	chr1:120510712..120511507-chr1:144989621..144990280,2	MCF-7	breast:
8	chr1:145065982..145068200-chr1:145088629..145091493,2	K562	blood:
9	chr1:144988937..144989757-chr1:145029836..145030458,2	MCF-7	breast:
10	chr1:144993668..144997286-chr1:145038559..145041171,3	MCF-7	breast:
11	chr1:145004749..145006865-chr1:145038139..145041323,3	MCF-7	breast:
12	chr1:145061540..145065119-chr1:145065155..145068193,4	MCF-7	breast:
13	chr1:145038446..145041073-chr1:145060317..145061902,2	MCF-7	breast:
14	chr1:144930877..144933652-chr1:144988569..144991245,4	MCF-7	breast:
15	chr1:145006816..145009369-chr1:145057265..145060152,2	K562	blood:
16	chr1:144988890..144991160-chr1:145008732..145012540,3	MCF-7	breast:
17	chr1:145005888..145007907-chr1:145011945..145014640,3	MCF-7	breast:
18	chr1:145009850..145011713-chr1:145053445..145055856,2	K562	blood:
19	chr1:145054217..145054913-chr1:145103284..145104051,2	K562	blood:
20	chr1:144987449..144989888-chr1:145029054..145030857,2	MCF-7	breast:
21	chr1:100888661..100889595-chr1:144991431..144992353,2	MCF-7	breast:
22	chr1:145052713..145055657-chr1:145057659..145059759,3	K562	blood:
23	chr1:144992586..144994194-chr1:145030165..145032446,2	MCF-7	breast:
24	chr1:145012679..145016226-chr1:145380619..145383924,3	K562	blood:
25	chr1:145018409..145019163-chr1:145060589..145061400,2	MCF-7	breast:
26	chr1:105552243..105552969-chr1:145064848..145065468,2	MCF-7	breast:
27	chr1:144989394..144991643-chr1:145383439..145385394,2	K562	blood:
28	chr1:144991875..144996644-chr1:145057208..145061569,6	K562	blood:
29	chr1:145008157..145010957-chr1:145382547..145384620,2	K562	blood:
30	chr1:145018409..145019163-chr1:145060589..145061400,2	MCF-7	breast:
31	chr1:120413290..120414192-chr1:145061552..145062410,3	MCF-7	breast:
32	chr1:145009595..145012188-chr1:145012261..145014678,3	MCF-7	breast:
33	chr1:144925446..144929176-chr1:145057629..145060761,3	MCF-7	breast:
34	chr1:145046292..145047913-chr1:145054684..145056365,2	MCF-7	breast:
35	chr1:145052947..145056723-chr1:145060283..145063800,4	K562	blood:
36	chr1:145032534..145035056-chr1:145096212..145098296,2	MCF-7	breast:
37	chr1:144988406..144991992-chr1:145057201..145059206,3	MCF-7	breast:
38	chr1:145005888..145007907-chr1:145011945..145014640,3	MCF-7	breast:
39	chr1:145012523..145015160-chr1:145055357..145057301,2	K562	blood:
40	chr1:144929480..144934765-chr1:145057603..145063573,9	MCF-7	breast:
41	chr1:145012040..145014419-chr1:145052808..145055801,2	K562	blood:
42	chr1:145041561..145043380-chr1:145095219..145097292,2	K562	blood:
43	chr1:144988088..144989012-chr1:145058100..145059991,5	MCF-7	breast:
44	chr1:145014159..145015000-chr1:145060710..145062762,6	MCF-7	breast:
45	chr1:144991670..144992584-chr1:145058749..145059738,4	MCF-7	breast:
46	chr1:144997738..145000659-chr1:145007857..145011011,3	MCF-7	breast:
47	chr1:145016166..145017682-chr1:145058594..145060560,2	K562	blood:
48	chr1:144996607..145000491-chr1:145382842..145385780,3	K562	blood:
49	chr1:144534065..144535931-chr1:145036199..145038965,3	K562	blood:
50	chr1:144992899..144993435-chr1:145029983..145030524,2	MCF-7	breast:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NBPF9-3	chr1:145004781-145005286	NONHSAT005869
2	lnc-POLR3GL-6	chr1:145017881-145017999	NONHSAT005872
3	lnc-NBPF9-4	chr1:145016388-145016968	NONHSAT005870
4	lnc-POLR3GL-6	chr1:145015873-145016011	NONHSAT005872
5	lnc-POLR3GL-6	chr1:145039590-145039851	NONHSAT005872
6	lnc-POLR3GL-6	chr1:145021112-145021167	NONHSAT005872
7	lnc-NBPF9-4	chr1:145013726-145013828	NONHSAT005870
8	lnc-NBPF9-5	chr1:145018395-145018959	ENSG00000272755.1
9	lnc-NOTCH2NL-4	chr1:145044651-145044900	NONHSAT005873

No data

Variant related genes	Relation type
RN7SKP88	TF binding region
ENSG00000272755	TF binding region
PDE4DIP	TF binding region
ENSG00000268172	TF binding region
RN7SKP88	CpG island
ENSG00000272755	CpG island
PDE4DIP	CpG island
ENSG00000268172	CpG island
ENSG00000203843	chromatin interactions
ENSG00000212694	chromatin interactions
ENSG00000188486	chromatin interactions
ENSG00000139725	chromatin interactions
ENSG00000201558	chromatin interactions
ENSG00000226446	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000178104	chromatin interactions
ENSG00000252656	chromatin interactions
ENSG00000255182	chromatin interactions
ENSG00000180370	chromatin interactions
ENSG00000174827	chromatin interactions
ENSG00000201699	chromatin interactions
ENSG00000202408	chromatin interactions
ENSG00000223491	chromatin interactions
ENSG00000268172	chromatin interactions
ENSG00000125347	chromatin interactions
ENSG00000271546	chromatin interactions
ENSG00000261139	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000233396	chromatin interactions
ENSG00000223380	chromatin interactions
ENSG00000079335	chromatin interactions
ENSG00000160972	chromatin interactions

Extended variants
information (count: 4759 )
Associated
traits (count: 172 )

Variant overlapped rSNPs/rCNVs (count:4759 , 50 per page) page: 1 2 3 4 5 6 7 ... 96

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587746375	chr1:144948977-144948978	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs587650287	chr1:144948986-144948987	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs587679019	chr1:144949009-144949010	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs587774502	chr1:144949026-144949027	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs587660290	chr1:144949137-144949138	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs587741835	chr1:144949174-144949175	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs587617011	chr1:144949235-144949236	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs587702453	chr1:144949266-144949267	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs587754810	chr1:144949267-144949268	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs370342018	chr1:144949272-144949273	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs587710772	chr1:144949295-144949296	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2798878	chr1:144949298-144949299	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs3010974	chr1:144949306-144949307	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs587595746	chr1:144949340-144949341	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs200401323	chr1:144949360-144949361	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs113728233	chr1:144949381-144949382	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2762731	chr1:144949382-144949383	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs587672269	chr1:144949389-144949390	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs587728703	chr1:144949411-144949412	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs587605185	chr1:144949483-144949484	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs12063558	chr1:144949486-144949487	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2798877	chr1:144949494-144949495	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs192333766	chr1:144949500-144949501	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113836184	chr1:144949505-144949506	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs587681690	chr1:144949509-144949510	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs12071087	chr1:144949539-144949540	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs12071090	chr1:144949559-144949560	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs587738690	chr1:144949563-144949564	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs111499306	chr1:144949586-144949587	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs587634640	chr1:144949594-144949595	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs587685091	chr1:144949634-144949635	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs2798876	chr1:144949642-144949643	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs377324685	chr1:144949683-144949684	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs587613353	chr1:144949695-144949696	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs587698528	chr1:144949704-144949705	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs587772213	chr1:144949728-144949729	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs587673008	chr1:144949729-144949730	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs190948434	chr1:144949740-144949741	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs587706990	chr1:144949761-144949762	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374476937	chr1:144949782-144949783	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs587774483	chr1:144949785-144949786	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs587638397	chr1:144949787-144949788	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs587711932	chr1:144949817-144949818	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs55969124	chr1:144949845-144949846	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs12124792	chr1:144949862-144949863	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs587594466	chr1:144949871-144949872	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs4300173	chr1:144949877-144949878	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs587641314	chr1:144949926-144949927	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs78123416	chr1:144949934-144949935	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs56288463	chr1:144949956-144949957	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:172)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22499536	CNVD
Schizophrenia	18923514	CNVD
Neuroblastoma	21124317	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	20970697	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Addison''s disease	21851588	CNVD
Heart disease	22199024	CNVD
Mental retardation	19951919	CNVD
Ovarian cancer	20844748	CNVD
Schizophrenia	21399695	CNVD
Prostate cancer	17217626	CNVD
Congenital heart defect	22199024	CNVD
TAR Syndrome	17847015	CNVD
Thrombocytopenia-absent radius syndrome	17236129	CNVD
Autism	18784092	CNVD
Congenital abnormalities	18784092	CNVD
Mental retardation	18784092	CNVD
Schizophrenia	19855392	CNVD
Ovarian cancer	22174824	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	19521722	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	19521646	CNVD
Neuroblastoma	19536264	CNVD
Epilepsy	20923578	CNVD
Mental retardation	17124404	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18668039	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19571808	CNVD
Velocardiofacial syndrome	19329560	CNVD
Autism	19955444	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Colorectal cancer	20459617	CNVD
Osteosarcoma	19286668	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17142309	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21509527	CNVD
Tetralogy of Fallot	22912587	CNVD
Autism	18522746	CNVD
Bladder cancer	21909424	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	20729466	CNVD
Schizophrenia	19197363	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Schizophrenia	23813976	CNVD
Lung adenocarcinoma	21935476	CNVD
idiopathic generalized epilepsy	19843651	CNVD
Schizophrenia	19843651	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Autism	20531469	CNVD
Autism	20858243	CNVD
Breast cancer	22522925	CNVD
Autism	22543975	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Epilepsy	20502679	CNVD
Autism	20841430	CNVD
Developmental delay	20808231	CNVD
Obesity	20808231	CNVD

Chromatin state (count:4747 , 50 per page) page: 1 2 3 4 5 6 7 ... 95

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:144934000-144949000	Weak transcription	Spleen	Spleen
2	chr1:144939800-144952200	Strong transcription	K562	blood
3	chr1:144941600-144950000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:144941600-144951000	Strong transcription	Left Ventricle	heart
5	chr1:144942200-144949600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:144942200-144960200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:144942400-144949200	Strong transcription	Fetal Muscle Trunk	muscle
8	chr1:144942400-144951400	Strong transcription	Brain Cingulate Gyrus	brain
9	chr1:144942400-144952200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:144942600-144952000	Strong transcription	Osteobl	bone
11	chr1:144942600-144952200	Strong transcription	Placenta	Placenta
12	chr1:144942800-144951800	Strong transcription	HSMM	muscle
13	chr1:144942800-144952200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:144942800-144952200	Strong transcription	Muscle Satellite Cultured Cells	--
15	chr1:144942800-144952200	Strong transcription	HSMMtube	muscle
16	chr1:144943000-144949000	Strong transcription	Brain Inferior Temporal Lobe	brain
17	chr1:144943200-144953000	Weak transcription	Fetal Brain Female	brain
18	chr1:144943400-144949200	Strong transcription	Fetal Muscle Leg	muscle
19	chr1:144943400-144961000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr1:144944000-144950000	Weak transcription	Fetal Stomach	stomach
21	chr1:144944000-144950000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr1:144944000-144950600	Weak transcription	Lung	lung
23	chr1:144944000-144966200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:144944200-144950000	Weak transcription	NHLF	lung
25	chr1:144944800-144949000	Strong transcription	Brain Hippocampus Middle	brain
26	chr1:144944800-144949200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr1:144945000-144949200	Strong transcription	Brain Anterior Caudate	brain
28	chr1:144945000-144949200	Strong transcription	Brain Substantia Nigra	brain
29	chr1:144945200-144949000	Strong transcription	NHDF-Ad	bronchial
30	chr1:144945200-144949400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:144945400-144949200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:144945600-144950200	Strong transcription	Psoas Muscle	Psoas
33	chr1:144945800-144949000	Strong transcription	Brain Angular Gyrus	brain
34	chr1:144945800-144952200	Strong transcription	Adipose Nuclei	Adipose
35	chr1:144946000-144949200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr1:144946200-144949600	Weak transcription	Fetal Kidney	kidney
37	chr1:144946600-144964800	Weak transcription	HMEC	breast
38	chr1:144946800-144949200	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr1:144946800-144950400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr1:144946800-144950800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:144946800-144962800	Weak transcription	Liver	Liver
42	chr1:144946800-144966200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr1:144947400-144952400	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr1:144947400-144956400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr1:144947400-144972800	Weak transcription	Right Ventricle	heart
46	chr1:144947600-144949200	Enhancers	Primary hematopoietic stem cells	blood
47	chr1:144948000-144949200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:144948000-144949200	Strong transcription	NH-A	brain
49	chr1:144948400-144949000	Enhancers	Primary T cells from cord blood	blood
50	chr1:144948400-144949000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links