Variant report

Variant	nsv482572
Chromosome Location	chr15:30118905-30304529
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1866)
CpG islands
(count:1346)
Chromatin interactive
region (count:70)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1866 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:30178838-30179138	HepG2	liver:	n/a	n/a
2	ARID3A	chr15:30218056-30218400	HepG2	liver:	n/a	n/a
3	ATF1	chr15:30267724-30267889	K562	blood:	n/a	n/a
4	ATF1	chr15:30135914-30136187	K562	blood:	n/a	n/a
5	ATF1	chr15:30228813-30229139	K562	blood:	n/a	n/a
6	ATF2	chr15:30217979-30218433	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF3	chr15:30217689-30218419	A549	lung:	n/a	n/a
8	BACH1	chr15:30254502-30254991	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr15:30179992-30180183	K562	blood:	n/a	n/a
10	BACH1	chr15:30217749-30218417	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr15:30260917-30261293	H1-hESC	embryonic stem cell:	n/a	n/a
12	BCL3	chr15:30197281-30197544	GM12878	blood:	n/a	n/a
13	BCL3	chr15:30216773-30218332	A549	lung:	n/a	n/a
14	BCL3	chr15:30216828-30218465	A549	lung:	n/a	n/a
15	BHLHE40	chr15:30218052-30218401	K562	blood:	n/a	n/a
16	BHLHE40	chr15:30163662-30164025	K562	blood:	n/a	n/a
17	BHLHE40	chr15:30135982-30136182	K562	blood:	n/a	n/a
18	BHLHE40	chr15:30147906-30148026	K562	blood:	n/a	n/a
19	BHLHE40	chr15:30167283-30167521	K562	blood:	n/a	n/a
20	BRCA1	chr15:30217703-30218447	H1-hESC	embryonic stem cell:	n/a	n/a
21	BRCA1	chr15:30157921-30158102	GM12878	blood:	n/a	n/a
22	BRCA1	chr15:30122911-30123251	Hela-S3	cervix:	n/a	n/a
23	BRCA1	chr15:30242719-30242870	HepG2	liver:	n/a	n/a
24	BRCA1	chr15:30225928-30227126	Hela-S3	cervix:	n/a	n/a
25	BRCA1	chr15:30299806-30299977	GM12878	blood:	n/a	n/a
26	CCNT2	chr15:30167280-30167543	K562	blood:	n/a	chr15:30167421-30167441
27	CEBPB	chr15:30227647-30228206	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr15:30179906-30180272	IMR90	lung:	n/a	n/a
29	CEBPB	chr15:30225161-30225747	A549	lung:	n/a	chr15:30225178-30225189
30	CEBPB	chr15:30225330-30225655	A549	lung:	n/a	n/a
31	CEBPB	chr15:30228594-30228960	IMR90	lung:	n/a	chr15:30228767-30228778 chr15:30228767-30228780
32	CEBPB	chr15:30128439-30128545	H1-hESC	embryonic stem cell:	n/a	n/a
33	CEBPB	chr15:30225237-30226019	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr15:30153067-30153412	IMR90	lung:	n/a	n/a
35	CEBPB	chr15:30134952-30135163	K562	blood:	n/a	chr15:30135087-30135100
36	CEBPB	chr15:30151494-30151798	HepG2	liver:	n/a	chr15:30151629-30151642 chr15:30151630-30151641
37	CEBPB	chr15:30238826-30239131	A549	lung:	n/a	n/a
38	CEBPB	chr15:30227781-30228137	ECC-1	luminal epithelium:	n/a	n/a
39	CEBPB	chr15:30277206-30277968	H1-hESC	embryonic stem cell:	n/a	n/a
40	CEBPB	chr15:30285552-30285793	H1-hESC	embryonic stem cell:	n/a	n/a
41	CEBPB	chr15:30119680-30120018	K562	blood:	n/a	chr15:30119830-30119841
42	CEBPB	chr15:30269272-30269808	A549	lung:	n/a	n/a
43	CEBPB	chr15:30228571-30228998	MCF-7	breast:	n/a	chr15:30228767-30228778 chr15:30228767-30228780
44	CEBPB	chr15:30209708-30210475	A549	lung:	n/a	chr15:30210105-30210116
45	CEBPB	chr15:30172869-30173069	HepG2	liver:	n/a	chr15:30172888-30172899
46	CEBPB	chr15:30209948-30210278	HepG2	liver:	n/a	chr15:30210105-30210116
47	CEBPB	chr15:30227786-30227957	HepG2	liver:	n/a	n/a
48	CEBPB	chr15:30209769-30210287	A549	lung:	n/a	chr15:30210105-30210116
49	CEBPB	chr15:30142501-30142687	A549	lung:	n/a	chr15:30142589-30142600
50	CEBPB	chr15:30226184-30226983	A549	lung:	n/a	chr15:30226511-30226524

(count:1346 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:30163726-30163776	HEK293	kidney:	embryo
2	chr15:30175531-30175581	K562	blood:	n/a
3	chr15:30197109-30197159	T-47D	breast:	n/a
4	chr15:30175531-30175581	Hela-S3	cervix:	n/a
5	chr15:30163726-30163776	HEK293	kidney:	embryo
6	chr15:30175531-30175581	K562	blood:	n/a
7	chr15:30197109-30197159	T-47D	breast:	n/a
8	chr15:30175531-30175581	Hela-S3	cervix:	n/a
9	chr15:30152612-30152662	T-47D	breast:	n/a
10	chr15:30260973-30261023	SK-N-MC	brain:	n/a
11	chr15:30212981-30213031	MCF-7	breast:	n/a
12	chr15:30261379-30261429	AG04449	skin:	fetal
13	chr15:30181321-30181371	NHDF-neo	bronchial:	n/a
14	chr15:30175531-30175581	AG04449	skin:	fetal
15	chr15:30212981-30213031	GM06990	blood:	n/a
16	chr15:30261393-30261443	AG04450	lung:	fetal
17	chr15:30164845-30164895	PFSK-1	brain:	n/a
18	chr15:30163825-30163875	RPTEC	kidney:	n/a
19	chr15:30163660-30163710	HEK293	kidney:	embryo
20	chr15:30163660-30163710	Caco-2	colon:	n/a
21	chr15:30206862-30206912	CMK	blood:	n/a
22	chr15:30261393-30261443	HCPEpiC	choroid plexus:	n/a
23	chr15:30277796-30277846	NHBE	bronchial:	n/a
24	chr15:30164845-30164895	Hela-S3	cervix:	n/a
25	chr15:30261393-30261443	MCF10A-Er-Src	breast:	n/a
26	chr15:30260459-30260509	U87	brain:	n/a
27	chr15:30277796-30277846	HCT-116	colon:	n/a
28	chr15:30216986-30217036	ovcar-3	ovarian:	n/a
29	chr15:30261418-30261468	GM12892	blood:	n/a
30	chr15:30228725-30228775	A549	lung:	n/a
31	chr15:30216986-30217036	GM12891	blood:	n/a
32	chr15:30163726-30163776	AG10803	skin:	n/a
33	chr15:30260973-30261023	AoSMC	blood vessel:	n/a
34	chr15:30163825-30163875	IMR90	lung:	fetal
35	chr15:30163825-30163875	T-47D	breast:	n/a
36	chr15:30261379-30261429	NHBE	bronchial:	n/a
37	chr15:30258429-30258479	Caco-2	colon:	n/a
38	chr15:30163726-30163776	HRE	kidney:	n/a
39	chr15:30164845-30164895	GM12891	blood:	n/a
40	chr15:30164845-30164895	HCF	heart:	n/a
41	chr15:30163825-30163875	AoSMC	blood vessel:	n/a
42	chr15:30164845-30164895	HRE	kidney:	n/a
43	chr15:30260534-30260584	GM12891	blood:	n/a
44	chr15:30260973-30261023	Caco-2	colon:	n/a
45	chr15:30258429-30258479	RPTEC	kidney:	n/a
46	chr15:30163660-30163710	AG04449	skin:	fetal
47	chr15:30163660-30163710	HRE	kidney:	n/a
48	chr15:30181321-30181371	HCF	heart:	n/a
49	chr15:30164845-30164895	IMR90	lung:	fetal
50	chr15:30261379-30261429	Hepatocyte	liver:	n/a

(count:70 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr15:30248713..30250900-chr15:30251709..30253522,2	K562	blood:
2	chr15:30216407..30219283-chr15:30243845..30246238,2	K562	blood:
3	chr15:30112210..30115412-chr15:30207308..30209419,3	MCF-7	breast:
4	chr15:30208802..30211048-chr15:30212481..30214180,2	MCF-7	breast:
5	chr15:29987389..29988307-chr15:30217729..30218454,2	MCF-7	breast:
6	chr15:30112803..30116771-chr15:30211280..30215308,10	MCF-7	breast:
7	chr15:30111514..30114289-chr15:30143434..30145466,2	K562	blood:
8	chr15:30213326..30217434-chr15:30217608..30221086,3	MCF-7	breast:
9	chr15:30040202..30040753-chr15:30227652..30228190,3	MCF-7	breast:
10	chr15:30040269..30041825-chr15:30216236..30217784,2	MCF-7	breast:
11	chr15:30116855..30119130-chr15:30151022..30153262,2	K562	blood:
12	chr15:30162335..30165638-chr15:30172933..30175702,3	K562	blood:
13	chr15:30044667..30045303-chr15:30217810..30218647,2	MCF-7	breast:
14	chr15:30248713..30250900-chr15:30251709..30253522,2	K562	blood:
15	chr15:29987494..29988361-chr15:30217340..30218437,6	K562	blood:
16	chr15:30157341..30159871-chr15:30168182..30170252,2	K562	blood:
17	chr15:30221544..30223860-chr15:30228911..30230419,2	MCF-7	breast:
18	chr15:30136239..30137152-chr15:30217795..30218416,3	MCF-7	breast:
19	chr15:30136239..30137152-chr15:30217795..30218416,3	MCF-7	breast:
20	chr15:30233133..30233805-chr15:30367233..30367920,2	MCF-7	breast:
21	chr15:30213720..30216052-chr15:30218061..30219609,2	K562	blood:
22	chr15:30117277..30119104-chr15:30123293..30126134,3	MCF-7	breast:
23	chr15:30111198..30117803-chr15:30119909..30125845,12	K562	blood:
24	chr15:30229585..30231176-chr15:30251951..30254758,2	K562	blood:
25	chr15:30131583..30134243-chr15:30136228..30138609,2	K562	blood:
26	chr15:30113950..30115889-chr15:30221353..30222989,2	MCF-7	breast:
27	chr15:30232675..30233456-chr15:30322159..30323009,2	MCF-7	breast:
28	chr15:30112822..30114652-chr15:30168939..30170729,2	MCF-7	breast:
29	chr15:30217904..30219562-chr15:30220854..30222686,2	MCF-7	breast:
30	chr15:30174871..30177305-chr15:30179997..30182167,2	K562	blood:
31	chr15:30217904..30219562-chr15:30220854..30222686,2	MCF-7	breast:
32	chr15:30113575..30115417-chr15:30222883..30226780,3	MCF-7	breast:
33	chr15:29959935..29960994-chr15:30217419..30218952,7	K562	blood:
34	chr15:30234442..30235027-chr15:30335180..30335724,2	MCF-7	breast:
35	chr15:29960061..29960832-chr15:30227692..30229349,4	MCF-7	breast:
36	chr15:30171448..30173034-chr15:30173407..30175865,2	K562	blood:
37	chr15:30213720..30216052-chr15:30218061..30219609,2	K562	blood:
38	chr15:30113090..30115260-chr15:30117657..30120039,3	MCF-7	breast:
39	chr15:30114093..30116162-chr15:30173109..30175872,2	K562	blood:
40	chr15:30234111..30234981-chr15:30322295..30322806,2	MCF-7	breast:
41	chr15:30113714..30114275-chr15:30217695..30218379,2	MCF-7	breast:
42	chr15:30213326..30217434-chr15:30217608..30221086,3	MCF-7	breast:
43	chr15:30174871..30177305-chr15:30179997..30182167,2	K562	blood:
44	chr15:30111763..30116993-chr15:30134612..30138047,6	MCF-7	breast:
45	chr15:30039757..30041000-chr15:30217656..30218757,7	MCF-7	breast:
46	chr15:30171448..30173034-chr15:30173407..30175865,2	K562	blood:
47	chr15:30208802..30211048-chr15:30212481..30214180,2	MCF-7	breast:
48	chr15:30113867..30115959-chr15:30211073..30213132,2	MCF-7	breast:
49	chr15:30112886..30114865-chr15:30125417..30127893,2	MCF-7	breast:
50	chr15:30131583..30134243-chr15:30136228..30138609,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GOLGA8J-1	chr15:30240229-30241102	XLOC_011198
2	lnc-GOLGA8J-1	chr15:30241229-30241270	XLOC_011198
3	lnc-TJP1-1	chr15:30297646-30297992	ENSG00000259647.1

No data

Variant related genes	Relation type
ENSG00000259749	TF binding region
TJP1	TF binding region
ENSG00000259749	CpG island
TJP1	CpG island
ENSG00000104067	chromatin interactions
ENSG00000259523	chromatin interactions
MGEA5	miRNA target sites
MGAT4A	miRNA target sites

Extended variants
information (count: 7007 )
Associated
traits (count: 158 )

Variant overlapped rSNPs/rCNVs (count:7007 , 50 per page) page: 1 2 3 4 5 6 7 ... 141

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568284409	chr15:30118927-30118928	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs188646644	chr15:30118938-30118939	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs557002332	chr15:30118944-30118945	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs369707647	chr15:30118953-30118954	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs75768277	chr15:30118997-30118998	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs114339435	chr15:30119012-30119013	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs549366719	chr15:30119031-30119032	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs148759780	chr15:30119060-30119061	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs142479981	chr15:30119130-30119131	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs77734520	chr15:30119148-30119149	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs561990821	chr15:30119149-30119150	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs572244056	chr15:30119187-30119188	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs575190159	chr15:30119194-30119195	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs542890348	chr15:30119229-30119230	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs113760712	chr15:30119310-30119311	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs7168919	chr15:30119318-30119319	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs573108523	chr15:30119327-30119328	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs532452597	chr15:30119361-30119362	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs58248967	chr15:30119373-30119374	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs181757572	chr15:30119388-30119389	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs61747377	chr15:30119405-30119406	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs548451528	chr15:30119410-30119411	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs568448579	chr15:30119424-30119425	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs191173735	chr15:30119453-30119454	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs537236858	chr15:30119462-30119463	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs550938722	chr15:30119585-30119586	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs571036085	chr15:30119586-30119587	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs181977974	chr15:30119590-30119591	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs7180387	chr15:30119593-30119594	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs527896978	chr15:30119621-30119622	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs572854510	chr15:30119672-30119673	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs187088991	chr15:30119675-30119676	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs534918892	chr15:30119745-30119746	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs28621615	chr15:30119861-30119862	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs546647301	chr15:30119885-30119886	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs555693559	chr15:30119892-30119893	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs562087450	chr15:30119909-30119910	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs560018517	chr15:30119954-30119955	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs532120304	chr15:30120015-30120016	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs577781596	chr15:30120173-30120174	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs574056385	chr15:30120194-30120195	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs545945832	chr15:30120210-30120211	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs559823771	chr15:30120212-30120213	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs191049983	chr15:30120262-30120263	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs548217306	chr15:30120263-30120264	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs79851295	chr15:30120288-30120289	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs182400066	chr15:30120337-30120338	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs376275980	chr15:30120540-30120541	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs551272531	chr15:30120590-30120591	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs201353219	chr15:30120601-30120602	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:158)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
idiopathic generalized epilepsy	19843651	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prader-willi syndrome	21504564	CNVD
The inv dup or idic syndrome	19019226	CNVD
Prader-willi syndrome	21233802	CNVD
Angelman syndrome	16617304	CNVD
Angelman syndrome	20970697	CNVD
Autism	22958593	CNVD
Prader-willi syndrome	16617304	CNVD
Prader-willi syndrome	18923514	CNVD
Prader-willi syndrome	20970697	CNVD
Angelman syndrome	16183798	CNVD
Angelman syndrome	18923514	CNVD
Prader-willi syndrome	22241247	CNVD
Epilepsy	20970697	CNVD
Autism	20970697	CNVD
Autism	19935738	CNVD
Autism	22930557	CNVD
Autism	19966786	CNVD
Autism	18923514	CNVD
Autism	18925931	CNVD
Autism	18835857	CNVD
Prader-willi syndrome	18835857	CNVD
Prader-willi syndrome	22152151	CNVD
Autism	22241247	CNVD
15q-syndrome	21725066	CNVD
Prader-willi syndrome	21503198	CNVD
Autism	21956041	CNVD
Prader-willi syndrome	16760730	CNVD
Prader-willi syndrome	22470819	CNVD
prenatal diagnosis	20453657	CNVD
Prader-willi syndrome	17867985	CNVD
Angelman syndrome	21072004	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Prader-willi syndrome	18781185	CNVD
Melanoma	18172304	CNVD
Autism	17322880	CNVD
Prader-willi syndrome	19329560	CNVD
Autism	17999366	CNVD
Autism	17901113	CNVD
Neurodevelopmental disorder	17015230	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	18923513	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Schizophrenia	19197363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Angelman syndrome	18787571	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Abnormal corpus callosum	21572526	CNVD
Autism	20531469	CNVD
Neuropsychiatric disorder	20506139	CNVD
Austim spectrum disorder	21302340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Mental retardation	17124404	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Autism	19843651	CNVD
Schizophrenia	19843651	CNVD
Schizophrenia	23813976	CNVD
Cognitive impairment	21505072	CNVD
Autism	22543975	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495309	CNVD
Schizophrenia	20388499	CNVD
Autism	20841430	CNVD
Epilepsy	22499536	CNVD
Schizophrenia	22499536	CNVD
Schizophrenia	18923514	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Mental retardation	19951919	CNVD
Mental retardation	21956041	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Autism	21269290	CNVD
Intellectual disability	21269290	CNVD
Schizophrenia	21269290	CNVD
Colorectal cancer	21128281	CNVD
Epilepsy	19289393	CNVD
Epilepsy	20643615	CNVD
Mental retardation	19289393	CNVD
Mental retardation	20152051	CNVD
Schizophrenia	19289393	CNVD
dysmorphic features	19289393	CNVD
idiopathic epilepsies	19341504	CNVD
idiopathic generalized epilepsy	19592580	CNVD
idiopathic generalized epilepsy	19136953	CNVD
Autism	22094647	CNVD
Developmental delay	19898479	CNVD
Mental retardation	18278044	CNVD
Mental retardation	19898479	CNVD
Prader-willi syndrome	18854863	CNVD
Schizophrenia	19855392	CNVD
Ovarian cancer	22174824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Attention deficit hyperactivity disorder	22420046	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Autism	21865298	CNVD
Cancer	20164919	CNVD

Chromatin state (count:2472 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:30115400-30119400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr15:30115400-30121000	Weak transcription	Lung	lung
3	chr15:30115600-30119000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr15:30115600-30119000	Weak transcription	Brain Angular Gyrus	brain
5	chr15:30115600-30119000	Weak transcription	Left Ventricle	heart
6	chr15:30115600-30119000	Weak transcription	Right Atrium	heart
7	chr15:30115600-30119200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr15:30115600-30119600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr15:30115600-30124400	Weak transcription	Spleen	Spleen
10	chr15:30115600-30127200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr15:30115600-30132800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr15:30115600-30136000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr15:30115800-30119000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr15:30115800-30119200	Weak transcription	Brain Anterior Caudate	brain
15	chr15:30115800-30119200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr15:30115800-30119400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr15:30115800-30119600	Weak transcription	Adipose Nuclei	Adipose
18	chr15:30115800-30119800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr15:30116000-30121000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr15:30116200-30119000	Weak transcription	Right Ventricle	heart
21	chr15:30116400-30119200	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr15:30116600-30119200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr15:30116800-30119400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr15:30117400-30119000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr15:30117800-30119000	Weak transcription	NHLF	lung
26	chr15:30117800-30119400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr15:30118000-30119400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr15:30118000-30123800	Weak transcription	A549	lung
29	chr15:30118400-30119600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
30	chr15:30118400-30119600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
31	chr15:30118400-30119800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
32	chr15:30118400-30119800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
33	chr15:30118600-30119000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
34	chr15:30118600-30119400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr15:30118600-30120000	Bivalent Enhancer	HepG2	liver
36	chr15:30118800-30119000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
37	chr15:30118800-30119200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
38	chr15:30118800-30119600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr15:30118800-30119800	Enhancers	Brain Cingulate Gyrus	brain
40	chr15:30118800-30119800	Enhancers	Placenta	Placenta
41	chr15:30118800-30120200	Enhancers	Brain Hippocampus Middle	brain
42	chr15:30118800-30120200	Enhancers	Brain Substantia Nigra	brain
43	chr15:30118800-30120400	Enhancers	Fetal Heart	heart
44	chr15:30119000-30119200	Enhancers	Brain Angular Gyrus	brain
45	chr15:30119000-30119400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr15:30119000-30119600	Enhancers	NHLF	lung
47	chr15:30119000-30119800	Enhancers	Left Ventricle	heart
48	chr15:30119000-30119800	Enhancers	Right Atrium	heart
49	chr15:30119000-30120200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr15:30119000-30120200	Enhancers	Right Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links