Variant report

Variant	nsv579852
Chromosome Location	chr19:44142771-44149449
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	BACH1	chr19:44144255-44144517	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr19:44146273-44146279	K562	blood:	n/a	n/a
3	BHLHE40	chr19:44144173-44144455	K562	blood:	n/a	n/a
4	CBX3	chr19:44144033-44144668	K562	blood:	n/a	n/a
5	CCNT2	chr19:44143757-44143802	K562	blood:	n/a	n/a
6	CCNT2	chr19:44144229-44144443	K562	blood:	n/a	n/a
7	CEBPB	chr19:44148295-44148412	A549	lung:	n/a	n/a
8	CEBPB	chr19:44148289-44148535	K562	blood:	n/a	n/a
9	CEBPD	chr19:44144006-44144368	HepG2	liver:	n/a	n/a
10	CHD2	chr19:44144176-44144238	Hela-S3	cervix:	n/a	n/a
11	CHD2	chr19:44144131-44144322	K562	blood:	n/a	n/a
12	CHD2	chr19:44144195-44144296	H1-hESC	embryonic stem cell:	n/a	n/a
13	CREB1	chr19:44143997-44144345	A549	lung:	n/a	n/a
14	CTCF	chr19:44144560-44144710	GM12871	blood:	n/a	n/a
15	E2F4	chr19:44144214-44144389	MCF10A-Er-Src	breast:	n/a	chr19:44144237-44144249 chr19:44144241-44144248 chr19:44144241-44144248 chr19:44144241-44144248
16	E2F6	chr19:44143843-44144647	K562	blood:	n/a	chr19:44144383-44144392 chr19:44144237-44144249 chr19:44144241-44144248 chr19:44144241-44144248 chr19:44144238-44144249 chr19:44144241-44144248
17	E2F6	chr19:44143966-44144753	A549	lung:	n/a	chr19:44144383-44144392 chr19:44144237-44144249 chr19:44144241-44144248 chr19:44144241-44144248 chr19:44144238-44144249 chr19:44144241-44144248
18	E2F6	chr19:44144062-44144755	H1-hESC	embryonic stem cell:	n/a	chr19:44144383-44144392 chr19:44144237-44144249 chr19:44144241-44144248 chr19:44144241-44144248 chr19:44144238-44144249 chr19:44144241-44144248
19	E2F6	chr19:44144021-44144699	H1-hESC	embryonic stem cell:	n/a	chr19:44144383-44144392 chr19:44144237-44144249 chr19:44144241-44144248 chr19:44144241-44144248 chr19:44144238-44144249 chr19:44144241-44144248
20	E2F6	chr19:44144058-44144652	Hela-S3	cervix:	n/a	chr19:44144383-44144392 chr19:44144237-44144249 chr19:44144241-44144248 chr19:44144241-44144248 chr19:44144238-44144249 chr19:44144241-44144248
21	E2F6	chr19:44143985-44144808	K562	blood:	n/a	chr19:44144383-44144392 chr19:44144237-44144249 chr19:44144241-44144248 chr19:44144241-44144248 chr19:44144238-44144249 chr19:44144241-44144248
22	E2F6	chr19:44144023-44144445	K562	blood:	n/a	chr19:44144383-44144392 chr19:44144237-44144249 chr19:44144241-44144248 chr19:44144241-44144248 chr19:44144238-44144249 chr19:44144241-44144248
23	E2F6	chr19:44144020-44144698	A549	lung:	n/a	chr19:44144383-44144392 chr19:44144237-44144249 chr19:44144241-44144248 chr19:44144241-44144248 chr19:44144238-44144249 chr19:44144241-44144248
24	ETS1	chr19:44144250-44144520	K562	blood:	n/a	n/a
25	HCFC1	chr19:44145514-44145814	K562	blood:	n/a	n/a
26	HEY1	chr19:44144023-44144354	HepG2	liver:	n/a	n/a
27	HMGN3	chr19:44143508-44143804	K562	blood:	n/a	n/a
28	HMGN3	chr19:44144103-44144675	K562	blood:	n/a	n/a
29	IRF1	chr19:44146826-44146982	K562	blood:	n/a	n/a
30	IRF1	chr19:44144083-44144398	K562	blood:	n/a	n/a
31	JUND	chr19:44144730-44145093	HepG2	liver:	n/a	chr19:44144904-44144914 chr19:44144904-44144913 chr19:44144903-44144915 chr19:44144903-44144914 chr19:44144905-44144914
32	JUND	chr19:44144860-44144961	K562	blood:	n/a	chr19:44144904-44144914 chr19:44144904-44144913 chr19:44144903-44144915 chr19:44144903-44144914 chr19:44144905-44144914
33	MAFF	chr19:44146653-44147097	K562	blood:	n/a	chr19:44146876-44146894
34	MAFF	chr19:44146661-44147217	HepG2	liver:	n/a	chr19:44146876-44146894
35	MAFK	chr19:44146606-44147070	HepG2	liver:	n/a	chr19:44146877-44146893 chr19:44146877-44146892 chr19:44146882-44146893 chr19:44146873-44146890
36	MAFK	chr19:44146560-44147201	GM12878	blood:	n/a	chr19:44146877-44146893 chr19:44146877-44146892 chr19:44146882-44146893 chr19:44146873-44146890
37	MAFK	chr19:44146652-44147093	Hela-S3	cervix:	n/a	chr19:44146877-44146893 chr19:44146877-44146892 chr19:44146882-44146893 chr19:44146873-44146890
38	MAFK	chr19:44146679-44147074	HepG2	liver:	n/a	chr19:44146877-44146893 chr19:44146877-44146892 chr19:44146882-44146893 chr19:44146873-44146890
39	MAFK	chr19:44146674-44147150	IMR90	lung:	n/a	chr19:44146877-44146893 chr19:44146877-44146892 chr19:44146882-44146893 chr19:44146873-44146890
40	MAFK	chr19:44146700-44147095	H1-hESC	embryonic stem cell:	n/a	chr19:44146877-44146893 chr19:44146877-44146892 chr19:44146882-44146893 chr19:44146873-44146890
41	MAFK	chr19:44146660-44147116	K562	blood:	n/a	chr19:44146877-44146893 chr19:44146877-44146892 chr19:44146882-44146893 chr19:44146873-44146890
42	MAX	chr19:44144099-44144601	HepG2	liver:	n/a	chr19:44144377-44144387
43	MAX	chr19:44144058-44144684	H1-hESC	embryonic stem cell:	n/a	chr19:44144377-44144387
44	MAX	chr19:44144067-44144622	SK-N-SH	brain:	n/a	chr19:44144377-44144387
45	MAX	chr19:44144203-44144413	Hela-S3	cervix:	n/a	chr19:44144377-44144387
46	MAX	chr19:44144084-44144583	A549	lung:	n/a	chr19:44144377-44144387
47	MAX	chr19:44143958-44144782	ECC-1	luminal epithelium:	n/a	chr19:44144377-44144387
48	MAX	chr19:44143877-44144791	A549	lung:	n/a	chr19:44144377-44144387
49	MAX	chr19:44144070-44144521	K562	blood:	n/a	chr19:44144377-44144387
50	MAX	chr19:44143915-44144772	HepG2	liver:	n/a	chr19:44144377-44144387

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:44143644-44143694	BJ	skin:	n/a
2	chr19:44146942-44146992	HRPEpiC	eye:	n/a
3	chr19:44147545-44147595	PANC-1	pancreas:	n/a
4	chr19:44143830-44143880	AG09309	skin:	n/a
5	chr19:44144337-44144387	HL-60	blood:	n/a
6	chr19:44143644-44143694	ProgFib	skin:	n/a
7	chr19:44144149-44144199	HL-60	blood:	n/a
8	chr19:44144585-44144635	IMR90	lung:	fetal
9	chr19:44144305-44144355	GM12891	blood:	n/a
10	chr19:44144585-44144635	H1-hESC	embryonic stem cell:	embryo
11	chr19:44147545-44147595	Hela-S3	cervix:	n/a
12	chr19:44147545-44147595	PrEC	prostate:	n/a
13	chr19:44144337-44144387	HUVEC	blood vessel:	n/a
14	chr19:44143644-44143694	HCT-116	colon:	n/a
15	chr19:44146942-44146992	AG10803	skin:	n/a
16	chr19:44144337-44144387	GM12891	blood:	n/a
17	chr19:44143830-44143880	K562	blood:	n/a
18	chr19:44143644-44143694	PFSK-1	brain:	n/a
19	chr19:44144337-44144387	T-47D	breast:	n/a
20	chr19:44147545-44147595	HIPEpiC	eye:	n/a
21	chr19:44144305-44144355	HCT-116	colon:	n/a
22	chr19:44143830-44143880	U87	brain:	n/a
23	chr19:44147545-44147595	HCF	heart:	n/a
24	chr19:44146942-44146992	SAEC	small airway:	n/a
25	chr19:44144585-44144635	AG10803	skin:	n/a
26	chr19:44144585-44144635	HMEC	breast:	n/a
27	chr19:44143644-44143694	NHDF-neo	bronchial:	n/a
28	chr19:44147545-44147595	ECC-1	luminal epithelium:	n/a
29	chr19:44144305-44144355	K562	blood:	n/a
30	chr19:44144149-44144199	HIPEpiC	eye:	n/a
31	chr19:44144337-44144387	HRCEpiC	kidney:	n/a
32	chr19:44147545-44147595	AG09319	gingival:	n/a
33	chr19:44143830-44143880	Hepatocyte	liver:	n/a
34	chr19:44144305-44144355	NHBE	bronchial:	n/a
35	chr19:44144305-44144355	Caco-2	colon:	n/a
36	chr19:44144305-44144355	SK-N-MC	brain:	n/a
37	chr19:44146942-44146992	AG09319	gingival:	n/a
38	chr19:44144305-44144355	PrEC	prostate:	n/a
39	chr19:44143830-44143880	SK-N-SH	brain:	n/a
40	chr19:44144337-44144387	HMEC	breast:	n/a
41	chr19:44144149-44144199	U87	brain:	n/a
42	chr19:44144149-44144199	ovcar-3	ovarian:	n/a
43	chr19:44144585-44144635	HUVEC	blood vessel:	n/a
44	chr19:44143830-44143880	NB4	blood:	n/a
45	chr19:44144305-44144355	HRPEpiC	eye:	n/a
46	chr19:44143644-44143694	ovcar-3	ovarian:	n/a
47	chr19:44143830-44143880	HMEC	breast:	n/a
48	chr19:44144149-44144199	HCM	heart:	n/a
49	chr19:44144305-44144355	GM12892	blood:	n/a
50	chr19:44144585-44144635	HRCEpiC	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:44140278..44143480-chr19:44195245..44198704,3	K562	blood:
2	chr19:44145301..44148682-chr19:44150930..44154485,3	K562	blood:
3	chr19:44131994..44133560-chr19:44140459..44143451,2	MCF-7	breast:
4	chr19:44098824..44101950-chr19:44142073..44145770,3	K562	blood:
5	chr19:44141422..44143480-chr19:44195245..44198092,2	K562	blood:
6	chr19:44144072..44146959-chr19:44160581..44162332,2	MCF-7	breast:
7	chr19:44082737..44084299-chr19:44149174..44151871,2	MCF-7	breast:
8	chr19:44122624..44125256-chr19:44141958..44145749,5	MCF-7	breast:
9	chr19:44144909..44146958-chr19:44147965..44150519,2	K562	blood:
10	chr19:44120391..44122846-chr19:44145838..44147515,2	MCF-7	breast:
11	chr19:44145301..44149219-chr19:44149901..44154485,5	K562	blood:
12	chr19:44077932..44081099-chr19:44141868..44144910,3	MCF-7	breast:
13	chr19:44144010..44147763-chr19:44150755..44153654,4	MCF-7	breast:
14	chr19:44144909..44146958-chr19:44147965..44150519,2	K562	blood:
15	chr19:44121917..44126953-chr19:44140515..44144634,11	MCF-7	breast:
16	chr19:44142791..44145223-chr19:44145741..44147722,2	MCF-7	breast:
17	chr19:44143848..44146165-chr19:44171493..44174030,3	K562	blood:
18	chr19:44143944..44145694-chr19:44172387..44174161,2	MCF-7	breast:
19	chr19:44118551..44131201-chr19:44135615..44147023,20	K562	blood:
20	chr19:44139192..44141813-chr19:44144492..44146172,2	MCF-7	breast:
21	chr19:44098885..44105672-chr19:44139703..44145307,6	MCF-7	breast:
22	chr19:44143406..44146165-chr19:44170107..44174030,3	K562	blood:
23	chr19:44123808..44127448-chr19:44146037..44149178,3	MCF-7	breast:
24	chr19:44142549..44145039-chr19:44172421..44174578,2	MCF-7	breast:

Variant related genes	Relation type
CADM4	TF binding region
CADM4	CpG island
ENSG00000269583	chromatin interactions
ENSG00000011422	chromatin interactions
ENSG00000226763	chromatin interactions
ENSG00000234465	chromatin interactions
ENSG00000073050	chromatin interactions
ENSG00000105767	chromatin interactions
ENSG00000167378	chromatin interactions
ENSG00000131116	chromatin interactions
ENSG00000124444	chromatin interactions

Extended variants
information (count: 224 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:224 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7252391	chr19:44142771-44142772	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs536234166	chr19:44142777-44142778	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs145963508	chr19:44142787-44142788	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs535792077	chr19:44142811-44142812	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs182005685	chr19:44142842-44142843	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs73038875	chr19:44142882-44142883	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs544390578	chr19:44142930-44142931	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs556682564	chr19:44142931-44142932	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs576531024	chr19:44143081-44143082	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs545450370	chr19:44143099-44143100	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs140903388	chr19:44143107-44143108	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs75492157	chr19:44143122-44143123	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs541884331	chr19:44143134-44143135	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs139877905	chr19:44143191-44143192	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs559913178	chr19:44143206-44143207	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs571976406	chr19:44143268-44143269	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs541785247	chr19:44143303-44143304	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs567570178	chr19:44143402-44143403	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs12978527	chr19:44143425-44143426	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs561999457	chr19:44143445-44143446	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs371648608	chr19:44143455-44143456	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs113326341	chr19:44143476-44143477	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs550793224	chr19:44143508-44143509	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs184916029	chr19:44143529-44143530	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs550658774	chr19:44143535-44143536	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs533476908	chr19:44143573-44143574	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs374559090	chr19:44143574-44143575	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs547039784	chr19:44143611-44143612	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs7257640	chr19:44143612-44143613	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs367631090	chr19:44143709-44143710	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs535821010	chr19:44143775-44143776	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs555825236	chr19:44143788-44143789	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs569202488	chr19:44144150-44144151	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
34	rs564725750	chr19:44144169-44144170	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
35	rs143343185	chr19:44144181-44144182	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
36	rs577780572	chr19:44144203-44144204	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
37	rs545602247	chr19:44144257-44144258	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
38	rs553010102	chr19:44144306-44144307	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
39	rs532040112	chr19:44144333-44144334	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
40	rs116465443	chr19:44144419-44144420	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
41	rs541800523	chr19:44144445-44144446	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
42	rs562009213	chr19:44144461-44144462	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
43	rs530830068	chr19:44144529-44144530	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs544479092	chr19:44144571-44144572	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
45	rs564290763	chr19:44144576-44144577	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
46	rs533135227	chr19:44144586-44144587	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
47	rs546810189	chr19:44144592-44144593	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
48	rs560622513	chr19:44144605-44144606	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
49	rs529315154	chr19:44144613-44144614	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
50	rs563950308	chr19:44144626-44144627	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Astrocytoma	22246337	CNVD
Ovarian cancer	22174824	CNVD
Cancer	20164920	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	20800559	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Spondylocostal dysostosis	21085971	CNVD
Nicotine metabolism	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	20459617	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:571 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44124600-44143400	Weak transcription	Right Atrium	heart
2	chr19:44139000-44142800	Weak transcription	Esophagus	oesophagus
3	chr19:44139800-44143400	Weak transcription	Ovary	ovary
4	chr19:44140000-44143200	Weak transcription	Right Ventricle	heart
5	chr19:44140600-44143000	Weak transcription	Fetal Heart	heart
6	chr19:44140800-44142800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr19:44141200-44143200	Flanking Active TSS	Fetal Brain Female	brain
8	chr19:44141600-44144800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr19:44142200-44143200	Flanking Active TSS	Brain Germinal Matrix	brain
10	chr19:44142200-44143200	Flanking Active TSS	Brain Hippocampus Middle	brain
11	chr19:44142200-44143600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr19:44142200-44143600	Bivalent Enhancer	Fetal Thymus	thymus
13	chr19:44142400-44142800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr19:44142400-44142800	Flanking Active TSS	Brain Angular Gyrus	brain
15	chr19:44142400-44142800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
16	chr19:44142400-44143000	Flanking Active TSS	Brain Anterior Caudate	brain
17	chr19:44142400-44143000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr19:44142400-44143000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
19	chr19:44142400-44143200	Flanking Active TSS	Brain Cingulate Gyrus	brain
20	chr19:44142400-44143200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
21	chr19:44142400-44143200	Enhancers	Pancreas	Pancrea
22	chr19:44142600-44142800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
23	chr19:44142600-44142800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr19:44142600-44142800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr19:44142600-44142800	Enhancers	Placenta Amnion	Placenta Amnion
26	chr19:44142600-44143000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
27	chr19:44142600-44143000	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr19:44142600-44143000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
29	chr19:44142600-44143000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr19:44142600-44143000	Bivalent Enhancer	Dnd41	blood
31	chr19:44142600-44143200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr19:44142600-44143200	Enhancers	Gastric	stomach
33	chr19:44142600-44143400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr19:44142600-44143400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr19:44142600-44143400	Flanking Active TSS	Brain Substantia Nigra	brain
36	chr19:44142600-44143400	Flanking Active TSS	Fetal Brain Male	brain
37	chr19:44142600-44143400	Bivalent Enhancer	GM12878-XiMat	blood
38	chr19:44142600-44143600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
39	chr19:44142600-44143600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
40	chr19:44142600-44143600	Flanking Active TSS	HepG2	liver
41	chr19:44142600-44144200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr19:44142600-44145000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
43	chr19:44142800-44143000	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr19:44142800-44143000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr19:44142800-44143000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
46	chr19:44142800-44143000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
47	chr19:44142800-44143000	Active TSS	Brain Angular Gyrus	brain
48	chr19:44142800-44143000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
49	chr19:44142800-44143200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr19:44142800-44143200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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