Variant report

Variant	esv1803730
Chromosome Location	chr1:61547843-61549494
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	ARID3A	chr1:61548699-61548751	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:61547354-61548296	HepG2	liver:	n/a	n/a
3	BACH1	chr1:61548679-61549342	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr1:61547128-61548436	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr1:61548755-61548832	K562	blood:	n/a	n/a
6	BHLHE40	chr1:61548667-61548871	HepG2	liver:	n/a	n/a
7	BHLHE40	chr1:61549345-61549393	K562	blood:	n/a	n/a
8	BHLHE40	chr1:61548240-61548996	K562	blood:	n/a	chr1:61548910-61548926
9	BRCA1	chr1:61548702-61548836	Hela-S3	cervix:	n/a	n/a
10	CBX3	chr1:61547330-61547880	K562	blood:	n/a	n/a
11	CCNT2	chr1:61547458-61548401	K562	blood:	n/a	chr1:61547873-61547882 chr1:61548041-61548050 chr1:61548027-61548036 chr1:61547739-61547748 chr1:61547867-61547876
12	CCNT2	chr1:61548816-61549601	K562	blood:	n/a	n/a
13	CEBPB	chr1:61548179-61548337	HepG2	liver:	n/a	n/a
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	chr1:61547577-61547888	A549	lung:	n/a	n/a
17	CEBPD	chr1:61547524-61548023	HepG2	liver:	n/a	n/a
18	CHD1	chr1:61549229-61549759	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD2	chr1:61548635-61548991	Hela-S3	cervix:	n/a	n/a
20	CHD2	chr1:61549457-61549554	Hela-S3	cervix:	n/a	n/a
21	CHD2	chr1:61548838-61548887	K562	blood:	n/a	n/a
22	CHD2	chr1:61547112-61547938	HepG2	liver:	n/a	n/a
23	CHD2	chr1:61547300-61548377	K562	blood:	n/a	chr1:61548041-61548051
24	CHD2	chr1:61547463-61548434	Hela-S3	cervix:	n/a	chr1:61548041-61548051
25	CHD2	chr1:61548861-61548939	HepG2	liver:	n/a	n/a
26	CHD2	chr1:61548168-61548489	HepG2	liver:	n/a	n/a
27	CREB1	chr1:61547572-61548327	A549	lung:	n/a	n/a
28	CREB1	chr1:61548858-61549342	A549	lung:	n/a	n/a
29	CTBP2	chr1:61547414-61548318	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTBP2	chr1:61548594-61549705	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr1:61549060-61549210	SK-N-SH_RA	brain:	n/a	n/a
32	CTCF	chr1:61549420-61549570	AG04449	skin:	n/a	n/a
33	CTCF	chr1:61548160-61548310	HCPEpiC	choroid plexus:	n/a	n/a
34	CTCF	chr1:61549100-61549250	HUVEC	blood vessel:	n/a	n/a
35	CTCF	chr1:61549162-61549407	IMR90	lung:	n/a	n/a
36	CTCF	chr1:61549117-61549218	Fibrobl	skin:	n/a	n/a
37	CTCF	chr1:61548940-61549090	SK-N-SH_RA	brain:	n/a	n/a
38	CTCF	chr1:61549020-61549170	BJ	skin:	n/a	n/a
39	CTCF	chr1:61549150-61549232	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr1:61548344-61548384	Kidney_OC	kidney:	n/a	n/a
41	CTCF	chr1:61549060-61549210	AG04449	skin:	n/a	n/a
42	E2F1	chr1:61547894-61548376	Hela-S3	cervix:	n/a	chr1:61548153-61548164 chr1:61548019-61548029
43	E2F4	chr1:61547602-61548456	K562	blood:	n/a	chr1:61548154-61548165 chr1:61547873-61547882 chr1:61548019-61548029
44	E2F4	chr1:61548045-61548415	MCF10A-Er-Src	breast:	n/a	chr1:61548154-61548165
45	E2F6	chr1:61547857-61548338	K562	blood:	n/a	chr1:61547873-61547882 chr1:61548019-61548029
46	E2F6	chr1:61547636-61549650	K562	blood:	n/a	chr1:61549223-61549232 chr1:61547873-61547882 chr1:61549475-61549490 chr1:61548019-61548029
47	E2F6	chr1:61548101-61548503	A549	lung:	n/a	n/a
48	E2F6	chr1:61548686-61549313	K562	blood:	n/a	chr1:61549223-61549232
49	E2F6	chr1:61547961-61548263	K562	blood:	n/a	chr1:61548019-61548029
50	EGR1	chr1:61547250-61548317	K562	blood:	n/a	chr1:61547876-61547886 chr1:61548022-61548032 chr1:61547734-61547747 chr1:61547420-61547429 chr1:61548022-61548035 chr1:61548023-61548033 chr1:61547868-61547881 chr1:61548021-61548036 chr1:61547867-61547882 chr1:61548028-61548041 chr1:61548035-61548050 chr1:61547868-61547881 chr1:61547373-61547383 chr1:61547870-61547880 chr1:61547419-61547432 chr1:61547737-61547746 chr1:61547372-61547382 chr1:61547734-61547747 chr1:61547873-61547883 chr1:61548022-61548035

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:61547866-61547916	NB4	blood:	n/a
2	chr1:61549111-61549161	U87	brain:	n/a
3	chr1:61547973-61548023	HepG2	liver:	n/a
4	chr1:61548526-61548576	NH-A	brain:	n/a
5	chr1:61548783-61548833	PANC-1	pancreas:	n/a
6	chr1:61547973-61548023	PFSK-1	brain:	n/a
7	chr1:61547969-61548019	HCM	heart:	n/a
8	chr1:61549010-61549060	AG10803	skin:	n/a
9	chr1:61548754-61548804	SAEC	small airway:	n/a
10	chr1:61549111-61549161	SK-N-MC	brain:	n/a
11	chr1:61549327-61549377	HepG2	liver:	n/a
12	chr1:61548526-61548576	GM12892	blood:	n/a
13	chr1:61547859-61547909	HCF	heart:	n/a
14	chr1:61549111-61549161	MCF-7	breast:	n/a
15	chr1:61548783-61548833	MCF-7	breast:	n/a
16	chr1:61549327-61549377	K562	blood:	n/a
17	chr1:61547866-61547916	SK-N-SH	brain:	n/a
18	chr1:61548783-61548833	T-47D	breast:	n/a
19	chr1:61548115-61548165	SKMC	muscle:	n/a
20	chr1:61548754-61548804	CMK	blood:	n/a
21	chr1:61549010-61549060	MCF-7	breast:	n/a
22	chr1:61549327-61549377	PrEC	prostate:	n/a
23	chr1:61547866-61547916	HCPEpiC	choroid plexus:	n/a
24	chr1:61548783-61548833	AG04450	lung:	fetal
25	chr1:61549010-61549060	HMEC	breast:	n/a
26	chr1:61549010-61549060	GM12892	blood:	n/a
27	chr1:61548115-61548165	NHBE	bronchial:	n/a
28	chr1:61548115-61548165	BJ	skin:	n/a
29	chr1:61549111-61549161	HRCEpiC	kidney:	n/a
30	chr1:61549111-61549161	HEEpiC	esophagus:	n/a
31	chr1:61549010-61549060	HPAEpiC	pulmonary alveolar:	n/a
32	chr1:61549010-61549060	LNCaP	prostate:	n/a
33	chr1:61547866-61547916	MCF10A-Er-Src	breast:	n/a
34	chr1:61548783-61548833	RPTEC	kidney:	n/a
35	chr1:61547866-61547916	HCM	heart:	n/a
36	chr1:61547969-61548019	ProgFib	skin:	n/a
37	chr1:61548754-61548804	HCF	heart:	n/a
38	chr1:61549111-61549161	A549	lung:	n/a
39	chr1:61547969-61548019	GM19239	blood:	n/a
40	chr1:61548754-61548804	ECC-1	luminal epithelium:	n/a
41	chr1:61547859-61547909	NT2-D1	testis:	n/a
42	chr1:61548526-61548576	PANC-1	pancreas:	n/a
43	chr1:61549010-61549060	A549	lung:	n/a
44	chr1:61547859-61547909	GM12891	blood:	n/a
45	chr1:61548526-61548576	NT2-D1	testis:	n/a
46	chr1:61548115-61548165	Jurkat	blood:	n/a
47	chr1:61548754-61548804	H1-hESC	embryonic stem cell:	embryo
48	chr1:61548526-61548576	U87	brain:	n/a
49	chr1:61548526-61548576	PrEC	prostate:	n/a
50	chr1:61549010-61549060	HRCEpiC	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:61548698..61549315-chr14:75745153..75745865,2	Hela-S3	cervix:
2	chr1:61513320..61528030-chr1:61539604..61553659,57	K562	blood:
3	chr1:61541387..61547328-chr1:61547444..61551394,9	MCF-7	breast:
4	chr1:61546491..61548608-chr1:61718284..61720951,3	K562	blood:
5	chr1:61549183..61550066-chr6:27860412..27861366,2	Hela-S3	cervix:
6	chr1:61548098..61549083-chr19:39897034..39897598,2	Hela-S3	cervix:
7	chr1:61512478..61530748-chr1:61539371..61553659,68	K562	blood:

Variant related genes	Relation type
NFIA	TF binding region
ENSG00000263380	TF binding region
NFIA	CpG island
ENSG00000263380	CpG island
ENSG00000196331	chromatin interactions
ENSG00000170345	chromatin interactions
ENSG00000128016	chromatin interactions
ENSG00000237853	chromatin interactions
ENSG00000197153	chromatin interactions
ENSG00000233224	chromatin interactions
ENSG00000162599	chromatin interactions

Extended variants
information (count: 47 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	rs375786854	chr1:61548531-61548532	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
22	rs370989267	chr1:61548552-61548553	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
23	rs554635184	chr1:61548560-61548561	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
24	rs569740065	chr1:61548568-61548569	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
25	rs373331880	chr1:61548661-61548662	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs537159195	chr1:61548663-61548664	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs191144940	chr1:61548705-61548706	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
28	rs559069965	chr1:61548715-61548716	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
29	rs369909042	chr1:61548716-61548717	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
30	rs577371339	chr1:61548783-61548784	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
31	rs117474251	chr1:61548871-61548872	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
32	rs553383645	chr1:61548887-61548888	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
33	rs574818948	chr1:61549036-61549037	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs541791670	chr1:61549044-61549045	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs563354636	chr1:61549050-61549051	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs530869810	chr1:61549123-61549124	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs376111424	chr1:61549134-61549135	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs182605651	chr1:61549152-61549153	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs564649316	chr1:61549165-61549166	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs532198555	chr1:61549370-61549371	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs112020537	chr1:61549390-61549391	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs187891537	chr1:61549400-61549401	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs12748111	chr1:61549404-61549405	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs532470012	chr1:61549429-61549430	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs368953650	chr1:61549430-61549431	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs559366454	chr1:61549438-61549439	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs547679724	chr1:61549444-61549445	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	6 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:186 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61545600-61550600	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr1:61545600-61552000	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr1:61545600-61553800	Active TSS	Aorta	Aorta
4	chr1:61545800-61550600	Active TSS	Fetal Muscle Trunk	muscle
5	chr1:61545800-61550600	Active TSS	Right Ventricle	heart
6	chr1:61546800-61549800	Active TSS	Brain Cingulate Gyrus	brain
7	chr1:61546800-61550600	Active TSS	Colonic Mucosa	Colon
8	chr1:61547000-61549600	Active TSS	Brain Anterior Caudate	brain
9	chr1:61547000-61549800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
10	chr1:61547000-61549800	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr1:61547000-61549800	Active TSS	Sigmoid Colon	Sigmoid Colon
12	chr1:61547000-61550200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:61547000-61550200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:61547000-61550400	Active TSS	Brain Angular Gyrus	brain
15	chr1:61547000-61550400	Active TSS	HSMMtube	muscle
16	chr1:61547000-61550600	Active TSS	Left Ventricle	heart
17	chr1:61547000-61550600	Active TSS	Ovary	ovary
18	chr1:61547000-61552000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:61547000-61552000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:61547000-61554200	Active TSS	Right Atrium	heart
21	chr1:61547200-61548200	Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr1:61547200-61549600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr1:61547200-61549800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:61547200-61549800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:61547200-61549800	Active TSS	Pancreas	Pancrea
26	chr1:61547200-61550000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr1:61547200-61550200	Active TSS	Small Intestine	intestine
28	chr1:61547200-61550200	Bivalent/Poised TSS	HepG2	liver
29	chr1:61547200-61550200	Active TSS	NHDF-Ad	bronchial
30	chr1:61547200-61550400	Active TSS	Brain Substantia Nigra	brain
31	chr1:61547200-61550400	Active TSS	Esophagus	oesophagus
32	chr1:61547200-61550400	Active TSS	A549	lung
33	chr1:61547200-61550600	Active TSS	Colon Smooth Muscle	Colon
34	chr1:61547200-61550800	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr1:61547200-61551400	Active TSS	Brain Hippocampus Middle	brain
36	chr1:61547200-61552000	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr1:61547200-61552200	Active TSS	Rectal Smooth Muscle	rectum
38	chr1:61547400-61548200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:61547400-61548200	Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr1:61547400-61548200	Active TSS	Thymus	Thymus
41	chr1:61547400-61548400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:61547400-61548400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr1:61547400-61548400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:61547400-61548600	Active TSS	NH-A	brain
45	chr1:61547400-61549400	Active TSS	Spleen	Spleen
46	chr1:61547400-61549600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:61547400-61549600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:61547400-61549600	Active TSS	Gastric	stomach
49	chr1:61547400-61549800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
50	chr1:61547400-61549800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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