Variant report

Variant	esv3366378
Chromosome Location	chr1:61547039-61549112
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:390)
CpG islands
(count:1163)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:390 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:61547354-61548296	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:61548699-61548751	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:61547165-61547615	K562	blood:	n/a	n/a
4	BACH1	chr1:61548679-61549342	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr1:61548755-61548832	K562	blood:	n/a	n/a
6	BACH1	chr1:61547128-61548436	H1-hESC	embryonic stem cell:	n/a	n/a
7	BHLHE40	chr1:61548667-61548871	HepG2	liver:	n/a	n/a
8	BHLHE40	chr1:61548240-61548996	K562	blood:	n/a	chr1:61548910-61548926
9	BHLHE40	chr1:61547122-61547673	K562	blood:	n/a	n/a
10	BRCA1	chr1:61548702-61548836	Hela-S3	cervix:	n/a	n/a
11	CBX3	chr1:61547330-61547880	K562	blood:	n/a	n/a
12	CCNT2	chr1:61548816-61549601	K562	blood:	n/a	n/a
13	CCNT2	chr1:61547458-61548401	K562	blood:	n/a	chr1:61547873-61547882 chr1:61548041-61548050 chr1:61548027-61548036 chr1:61547739-61547748 chr1:61547867-61547876
14	CEBPB	chr1:61547568-61547900	HepG2	liver:	n/a	n/a
15	CEBPB	chr1:61547494-61548332	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr1:61547527-61547814	A549	lung:	n/a	n/a
17	CEBPB	chr1:61547577-61547888	A549	lung:	n/a	n/a
18	CEBPB	chr1:61548179-61548337	HepG2	liver:	n/a	n/a
19	CEBPB	chr1:61547513-61547788	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr1:61547632-61547794	HepG2	liver:	n/a	n/a
21	CEBPB	chr1:61547581-61547816	K562	blood:	n/a	n/a
22	CEBPD	chr1:61547524-61548023	HepG2	liver:	n/a	n/a
23	CHD2	chr1:61547112-61547938	HepG2	liver:	n/a	n/a
24	CHD2	chr1:61548168-61548489	HepG2	liver:	n/a	n/a
25	CHD2	chr1:61547300-61548377	K562	blood:	n/a	chr1:61548041-61548051
26	CHD2	chr1:61548838-61548887	K562	blood:	n/a	n/a
27	CHD2	chr1:61548861-61548939	HepG2	liver:	n/a	n/a
28	CHD2	chr1:61547463-61548434	Hela-S3	cervix:	n/a	chr1:61548041-61548051
29	CHD2	chr1:61548635-61548991	Hela-S3	cervix:	n/a	n/a
30	CREB1	chr1:61547572-61548327	A549	lung:	n/a	n/a
31	CREB1	chr1:61548858-61549342	A549	lung:	n/a	n/a
32	CTBP2	chr1:61548594-61549705	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTBP2	chr1:61547414-61548318	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr1:61549020-61549170	BJ	skin:	n/a	n/a
35	CTCF	chr1:61547398-61547632	K562	blood:	n/a	n/a
36	CTCF	chr1:61548344-61548384	Kidney_OC	kidney:	n/a	n/a
37	CTCF	chr1:61547320-61547470	HCPEpiC	choroid plexus:	n/a	n/a
38	CTCF	chr1:61548940-61549090	SK-N-SH_RA	brain:	n/a	n/a
39	CTCF	chr1:61549060-61549210	SK-N-SH_RA	brain:	n/a	n/a
40	CTCF	chr1:61547640-61547790	HMEC	breast:	n/a	n/a
41	CTCF	chr1:61547640-61547790	GM12873	blood:	n/a	n/a
42	CTCF	chr1:61549100-61549250	HUVEC	blood vessel:	n/a	n/a
43	CTCF	chr1:61548160-61548310	HCPEpiC	choroid plexus:	n/a	n/a
44	CTCF	chr1:61549060-61549210	AG04449	skin:	n/a	n/a
45	CUX1	chr1:61547134-61547314	K562	blood:	n/a	n/a
46	E2F1	chr1:61547894-61548376	Hela-S3	cervix:	n/a	chr1:61548153-61548164 chr1:61548019-61548029
47	E2F4	chr1:61547592-61547684	MCF10A-Er-Src	breast:	n/a	n/a
48	E2F4	chr1:61547602-61548456	K562	blood:	n/a	chr1:61548154-61548165 chr1:61547873-61547882 chr1:61548019-61548029
49	E2F4	chr1:61548045-61548415	MCF10A-Er-Src	breast:	n/a	chr1:61548154-61548165
50	E2F6	chr1:61547636-61549650	K562	blood:	n/a	chr1:61549223-61549232 chr1:61547873-61547882 chr1:61549475-61549490 chr1:61548019-61548029

(count:1163 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:61548783-61548833	CMK	blood:	n/a
2	chr1:61547758-61547808	SKMC	muscle:	n/a
3	chr1:61548115-61548165	AoSMC	blood vessel:	n/a
4	chr1:61547497-61547547	BJ	skin:	n/a
5	chr1:61548783-61548833	CMK	blood:	n/a
6	chr1:61547758-61547808	SKMC	muscle:	n/a
7	chr1:61548115-61548165	AoSMC	blood vessel:	n/a
8	chr1:61547497-61547547	BJ	skin:	n/a
9	chr1:61548115-61548165	GM06990	blood:	n/a
10	chr1:61547632-61547682	GM06990	blood:	n/a
11	chr1:61549111-61549161	ovcar-3	ovarian:	n/a
12	chr1:61547632-61547682	NHDF-neo	bronchial:	n/a
13	chr1:61547494-61547544	T-47D	breast:	n/a
14	chr1:61547969-61548019	BE2_C	brain:	n/a
15	chr1:61547163-61547213	HNPCEpiC	eye:	n/a
16	chr1:61548115-61548165	HMEC	breast:	n/a
17	chr1:61549111-61549161	HEK293	kidney:	embryo
18	chr1:61549010-61549060	AG09319	gingival:	n/a
19	chr1:61547859-61547909	AG09309	skin:	n/a
20	chr1:61548115-61548165	AG09319	gingival:	n/a
21	chr1:61548526-61548576	HAEpiC	amniotic membrane:	n/a
22	chr1:61547632-61547682	SKMC	muscle:	n/a
23	chr1:61547389-61547439	H1-hESC	embryonic stem cell:	embryo
24	chr1:61547131-61547181	AG09309	skin:	n/a
25	chr1:61547389-61547439	ovcar-3	ovarian:	n/a
26	chr1:61547494-61547544	SK-N-SH	brain:	n/a
27	chr1:61547389-61547439	HepG2	liver:	n/a
28	chr1:61547389-61547439	LNCaP	prostate:	n/a
29	chr1:61547497-61547547	LNCaP	prostate:	n/a
30	chr1:61547389-61547439	BJ	skin:	n/a
31	chr1:61547389-61547439	RPTEC	kidney:	n/a
32	chr1:61547494-61547544	MCF10A-Er-Src	breast:	n/a
33	chr1:61548783-61548833	SK-N-SH_RA	brain:	n/a
34	chr1:61549111-61549161	HIPEpiC	eye:	n/a
35	chr1:61547340-61547390	HMEC	breast:	n/a
36	chr1:61547494-61547544	PFSK-1	brain:	n/a
37	chr1:61547376-61547426	PFSK-1	brain:	n/a
38	chr1:61548526-61548576	GM12892	blood:	n/a
39	chr1:61547969-61548019	HNPCEpiC	eye:	n/a
40	chr1:61548754-61548804	Jurkat	blood:	n/a
41	chr1:61547632-61547682	GM12878	blood:	n/a
42	chr1:61549111-61549161	AG09319	gingival:	n/a
43	chr1:61547163-61547213	HEK293	kidney:	embryo
44	chr1:61548783-61548833	SK-N-MC	brain:	n/a
45	chr1:61547494-61547544	AG04449	skin:	fetal
46	chr1:61549010-61549060	Hela-S3	cervix:	n/a
47	chr1:61547969-61548019	CMK	blood:	n/a
48	chr1:61547497-61547547	HMEC	breast:	n/a
49	chr1:61548754-61548804	HCF	heart:	n/a
50	chr1:61547340-61547390	MCF-7	breast:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:61548698..61549315-chr14:75745153..75745865,2	Hela-S3	cervix:
2	chr1:61546491..61548608-chr1:61718284..61720951,3	K562	blood:
3	chr1:61548098..61549083-chr19:39897034..39897598,2	Hela-S3	cervix:
4	chr1:61541387..61547328-chr1:61547444..61551394,9	MCF-7	breast:
5	chr1:61513320..61528030-chr1:61539604..61553659,57	K562	blood:
6	chr1:61541387..61547328-chr1:61547444..61551394,9	MCF-7	breast:
7	chr1:61512478..61530748-chr1:61539371..61553659,68	K562	blood:

No data

Variant related genes	Relation type
NFIA	TF binding region
NFIA	CpG island
ENSG00000162599	chromatin interactions
ENSG00000170345	chromatin interactions
ENSG00000237853	chromatin interactions
ENSG00000263380	chromatin interactions
ENSG00000128016	chromatin interactions

Extended variants
information (count: 65 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578130431	chr1:61547058-61547059	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs545584739	chr1:61547069-61547070	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs561419426	chr1:61547147-61547148	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs373169952	chr1:61547214-61547215	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs576705086	chr1:61547229-61547230	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs140250340	chr1:61547240-61547241	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs565564297	chr1:61547246-61547247	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs534816680	chr1:61547274-61547275	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs532722264	chr1:61547287-61547288	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs547742648	chr1:61547307-61547308	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs559506966	chr1:61547324-61547325	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs183372164	chr1:61547335-61547336	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs569863217	chr1:61547352-61547353	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs375559828	chr1:61547357-61547358	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs549591506	chr1:61547423-61547424	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs187633465	chr1:61547453-61547454	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs572550265	chr1:61547486-61547487	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs376435385	chr1:61547493-61547494	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs538569071	chr1:61547495-61547496	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs553688269	chr1:61547544-61547545	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs565542543	chr1:61547561-61547562	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs536299005	chr1:61547582-61547583	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs554694463	chr1:61547639-61547640	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs144213945	chr1:61547655-61547656	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs544010532	chr1:61547730-61547731	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs558907350	chr1:61547770-61547771	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs577435946	chr1:61547791-61547792	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs191948487	chr1:61547812-61547813	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs541372781	chr1:61547820-61547821	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs559655219	chr1:61547834-61547835	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs113854816	chr1:61547883-61547884	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs547742817	chr1:61548112-61548113	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs530039473	chr1:61548113-61548114	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs553177547	chr1:61548203-61548204	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs541853325	chr1:61548229-61548230	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs563417779	chr1:61548234-61548235	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs183063510	chr1:61548262-61548263	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs186679467	chr1:61548265-61548266	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs143384586	chr1:61548267-61548268	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs571362529	chr1:61548277-61548278	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs532389702	chr1:61548279-61548280	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs547371775	chr1:61548295-61548296	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs566004844	chr1:61548301-61548302	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs113913435	chr1:61548345-61548346	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs543078710	chr1:61548379-61548380	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs151154338	chr1:61548393-61548394	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs371736440	chr1:61548438-61548439	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs369745275	chr1:61548456-61548457	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs565024869	chr1:61548519-61548520	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs201335260	chr1:61548520-61548521	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	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
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Breast cancer	16620391	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
CNS Malformation Syndrome	17530927	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	20459617	CNVD
Endometrioid adenocarcinoma	16974079	CNVD

Chromatin state (count:319 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61543200-61547200	Weak transcription	Pancreas	Pancrea
2	chr1:61543200-61547400	Weak transcription	Lung	lung
3	chr1:61543800-61547200	Weak transcription	Esophagus	oesophagus
4	chr1:61544200-61547200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:61544200-61547200	Enhancers	Primary T cells fromperipheralblood	blood
6	chr1:61544200-61547200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr1:61544400-61547200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr1:61544400-61547200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr1:61544600-61547200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr1:61544600-61547200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:61544800-61547400	Weak transcription	Gastric	stomach
12	chr1:61545000-61547400	Flanking Active TSS	Stomach Smooth Muscle	stomach
13	chr1:61545000-61547600	Flanking Active TSS	HUVEC	blood vessel
14	chr1:61545200-61547600	Flanking Active TSS	Fetal Muscle Leg	muscle
15	chr1:61545200-61547600	Flanking Active TSS	Hela-S3	cervix
16	chr1:61545200-61547800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:61545200-61547800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:61545400-61547400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr1:61545400-61547600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:61545400-61547600	Flanking Active TSS	NHEK	skin
21	chr1:61545400-61547600	Flanking Active TSS	Osteobl	bone
22	chr1:61545600-61547200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:61545600-61547200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:61545600-61547600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr1:61545600-61550600	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr1:61545600-61552000	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr1:61545600-61553800	Active TSS	Aorta	Aorta
28	chr1:61545800-61547200	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr1:61545800-61547200	Flanking Active TSS	Fetal Lung	lung
30	chr1:61545800-61547600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
31	chr1:61545800-61550600	Active TSS	Fetal Muscle Trunk	muscle
32	chr1:61545800-61550600	Active TSS	Right Ventricle	heart
33	chr1:61546000-61547200	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr1:61546000-61547200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr1:61546000-61547200	Flanking Active TSS	Brain Substantia Nigra	brain
36	chr1:61546000-61547200	Flanking Active TSS	Colon Smooth Muscle	Colon
37	chr1:61546000-61547200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr1:61546000-61547200	Flanking Active TSS	Rectal Smooth Muscle	rectum
39	chr1:61546000-61547200	Flanking Active TSS	A549	lung
40	chr1:61546000-61547200	Flanking Active TSS	NHDF-Ad	bronchial
41	chr1:61546000-61547400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:61546000-61547400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:61546000-61547400	Flanking Active TSS	Fetal Stomach	stomach
44	chr1:61546000-61547400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr1:61546000-61547600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:61546200-61547200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:61546200-61547200	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:61546200-61547200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr1:61546200-61547200	Flanking Active TSS	Brain Hippocampus Middle	brain
50	chr1:61546200-61547400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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