Variant report

Variant	nsv470742
Chromosome Location	chr1:156335111-156354367
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	chr1:156338731-156338873	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:156337762-156337788	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:156341385-156342160	HepG2	liver:	n/a	n/a
4	ARID3A	chr1:156337996-156338351	HepG2	liver:	n/a	n/a
5	ATF1	chr1:156351083-156351204	K562	blood:	n/a	n/a
6	BHLHE40	chr1:156352790-156353086	GM12878	blood:	n/a	n/a
7	BHLHE40	chr1:156352823-156353073	K562	blood:	n/a	n/a
8	BHLHE40	chr1:156341494-156342165	HepG2	liver:	n/a	n/a
9	BRCA1	chr1:156339119-156339144	HepG2	liver:	n/a	n/a
10	BRCA1	chr1:156352861-156353013	Hela-S3	cervix:	n/a	n/a
11	CBX3	chr1:156345895-156346137	K562	blood:	n/a	n/a
12	CEBPB	chr1:156341357-156341705	IMR90	lung:	n/a	n/a
13	CEBPB	chr1:156341406-156341668	ECC-1	luminal epithelium:	n/a	n/a
14	CEBPB	chr1:156345947-156346164	ECC-1	luminal epithelium:	n/a	chr1:156346066-156346077 chr1:156346066-156346079 chr1:156346067-156346078 chr1:156346031-156346042 chr1:156346033-156346044 chr1:156346068-156346077 chr1:156346031-156346044 chr1:156346033-156346042
15	CEBPB	chr1:156345875-156346248	HepG2	liver:	n/a	chr1:156346066-156346077 chr1:156346066-156346079 chr1:156346067-156346078 chr1:156346031-156346042 chr1:156346033-156346044 chr1:156346068-156346077 chr1:156346031-156346044 chr1:156346033-156346042
16	CEBPB	chr1:156341341-156341661	ECC-1	luminal epithelium:	n/a	n/a
17	CEBPB	chr1:156341236-156342035	HepG2	liver:	n/a	n/a
18	CEBPB	chr1:156345753-156346175	A549	lung:	n/a	chr1:156346066-156346077 chr1:156346066-156346079 chr1:156346067-156346078 chr1:156346031-156346042 chr1:156346033-156346044 chr1:156346068-156346077 chr1:156346031-156346044 chr1:156346033-156346042
19	CEBPB	chr1:156341342-156341722	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr1:156345847-156346164	MCF-7	breast:	n/a	chr1:156346066-156346077 chr1:156346066-156346079 chr1:156346067-156346078 chr1:156346031-156346042 chr1:156346033-156346044 chr1:156346068-156346077 chr1:156346031-156346044 chr1:156346033-156346042
21	CEBPB	chr1:156341328-156341720	K562	blood:	n/a	n/a
22	CEBPB	chr1:156341237-156342103	HepG2	liver:	n/a	n/a
23	CEBPB	chr1:156337917-156338079	HepG2	liver:	n/a	n/a
24	CEBPB	chr1:156341372-156341711	A549	lung:	n/a	n/a
25	CEBPB	chr1:156345904-156346320	A549	lung:	n/a	chr1:156346066-156346077 chr1:156346066-156346079 chr1:156346067-156346078 chr1:156346031-156346042 chr1:156346033-156346044 chr1:156346068-156346077 chr1:156346031-156346044 chr1:156346033-156346042
26	CEBPB	chr1:156345980-156346136	HepG2	liver:	n/a	chr1:156346066-156346077 chr1:156346066-156346079 chr1:156346067-156346078 chr1:156346031-156346042 chr1:156346033-156346044 chr1:156346068-156346077 chr1:156346031-156346044 chr1:156346033-156346042
27	CEBPB	chr1:156345870-156346260	HepG2	liver:	n/a	chr1:156346066-156346077 chr1:156346066-156346079 chr1:156346067-156346078 chr1:156346031-156346042 chr1:156346033-156346044 chr1:156346068-156346077 chr1:156346031-156346044 chr1:156346033-156346042
28	CEBPB	chr1:156341666-156341985	HepG2	liver:	n/a	n/a
29	CEBPB	chr1:156341285-156341779	MCF-7	breast:	n/a	n/a
30	CEBPB	chr1:156345888-156346259	H1-hESC	embryonic stem cell:	n/a	chr1:156346066-156346077 chr1:156346066-156346079 chr1:156346067-156346078 chr1:156346031-156346042 chr1:156346033-156346044 chr1:156346068-156346077 chr1:156346031-156346044 chr1:156346033-156346042
31	CEBPB	chr1:156341399-156341691	H1-hESC	embryonic stem cell:	n/a	n/a
32	CEBPB	chr1:156341412-156341766	A549	lung:	n/a	n/a
33	CEBPB	chr1:156345896-156346206	HepG2	liver:	n/a	chr1:156346066-156346077 chr1:156346066-156346079 chr1:156346067-156346078 chr1:156346031-156346042 chr1:156346033-156346044 chr1:156346068-156346077 chr1:156346031-156346044 chr1:156346033-156346042
34	CEBPB	chr1:156341303-156341719	K562	blood:	n/a	n/a
35	CEBPB	chr1:156345878-156346240	ECC-1	luminal epithelium:	n/a	chr1:156346066-156346077 chr1:156346066-156346079 chr1:156346067-156346078 chr1:156346031-156346042 chr1:156346033-156346044 chr1:156346068-156346077 chr1:156346031-156346044 chr1:156346033-156346042
36	CEBPB	chr1:156345875-156346235	K562	blood:	n/a	chr1:156346066-156346077 chr1:156346066-156346079 chr1:156346067-156346078 chr1:156346031-156346042 chr1:156346033-156346044 chr1:156346068-156346077 chr1:156346031-156346044 chr1:156346033-156346042
37	CEBPB	chr1:156345946-156346126	K562	blood:	n/a	chr1:156346066-156346077 chr1:156346066-156346079 chr1:156346067-156346078 chr1:156346031-156346042 chr1:156346033-156346044 chr1:156346068-156346077 chr1:156346031-156346044 chr1:156346033-156346042
38	CEBPB	chr1:156345881-156346245	A549	lung:	n/a	chr1:156346066-156346077 chr1:156346066-156346079 chr1:156346067-156346078 chr1:156346031-156346042 chr1:156346033-156346044 chr1:156346068-156346077 chr1:156346031-156346044 chr1:156346033-156346042
39	CEBPB	chr1:156341360-156341632	HepG2	liver:	n/a	n/a
40	CEBPB	chr1:156341324-156342094	HepG2	liver:	n/a	n/a
41	CEBPB	chr1:156341440-156341654	K562	blood:	n/a	n/a
42	CEBPB	chr1:156341219-156341828	A549	lung:	n/a	n/a
43	CEBPB	chr1:156345865-156346261	IMR90	lung:	n/a	chr1:156346066-156346077 chr1:156346066-156346079 chr1:156346067-156346078 chr1:156346031-156346042 chr1:156346033-156346044 chr1:156346068-156346077 chr1:156346031-156346044 chr1:156346033-156346042
44	CEBPB	chr1:156345861-156346261	Hela-S3	cervix:	n/a	chr1:156346066-156346077 chr1:156346066-156346079 chr1:156346067-156346078 chr1:156346031-156346042 chr1:156346033-156346044 chr1:156346068-156346077 chr1:156346031-156346044 chr1:156346033-156346042
45	CEBPB	chr1:156341390-156341828	MCF-7	breast:	n/a	n/a
46	CEBPB	chr1:156345871-156346243	K562	blood:	n/a	chr1:156346066-156346077 chr1:156346066-156346079 chr1:156346067-156346078 chr1:156346031-156346042 chr1:156346033-156346044 chr1:156346068-156346077 chr1:156346031-156346044 chr1:156346033-156346042
47	CEBPD	chr1:156338784-156339276	HepG2	liver:	n/a	n/a
48	CEBPD	chr1:156337901-156338232	HepG2	liver:	n/a	n/a
49	CEBPD	chr1:156341318-156341791	HepG2	liver:	n/a	n/a
50	CEBPD	chr1:156341244-156342102	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:156339198-156339248	CMK	blood:	n/a
2	chr1:156338826-156338876	SK-N-SH	brain:	n/a
3	chr1:156337523-156337573	HUVEC	blood vessel:	n/a
4	chr1:156338793-156338843	GM12891	blood:	n/a
5	chr1:156337523-156337573	NT2-D1	testis:	n/a
6	chr1:156341523-156341573	MCF-7	breast:	n/a
7	chr1:156338826-156338876	HCPEpiC	choroid plexus:	n/a
8	chr1:156339198-156339248	HUVEC	blood vessel:	n/a
9	chr1:156338793-156338843	SAEC	small airway:	n/a
10	chr1:156337523-156337573	HL-60	blood:	n/a
11	chr1:156338639-156338689	PANC-1	pancreas:	n/a
12	chr1:156337523-156337573	HCPEpiC	choroid plexus:	n/a
13	chr1:156339011-156339061	SK-N-MC	brain:	n/a
14	chr1:156339250-156339300	Jurkat	blood:	n/a
15	chr1:156338793-156338843	BE2_C	brain:	n/a
16	chr1:156339011-156339061	HRCEpiC	kidney:	n/a
17	chr1:156339250-156339300	HepG2	liver:	n/a
18	chr1:156339250-156339300	HCM	heart:	n/a
19	chr1:156339198-156339248	MCF-7	breast:	n/a
20	chr1:156338826-156338876	GM12892	blood:	n/a
21	chr1:156339011-156339061	HCM	heart:	n/a
22	chr1:156338639-156338689	SAEC	small airway:	n/a
23	chr1:156337523-156337573	AG09319	gingival:	n/a
24	chr1:156338793-156338843	AoSMC	blood vessel:	n/a
25	chr1:156338826-156338876	AG10803	skin:	n/a
26	chr1:156337523-156337573	Hela-S3	cervix:	n/a
27	chr1:156339011-156339061	Hepatocyte	liver:	n/a
28	chr1:156338639-156338689	MCF-7	breast:	n/a
29	chr1:156337523-156337573	SAEC	small airway:	n/a
30	chr1:156337523-156337573	HPAEpiC	pulmonary alveolar:	n/a
31	chr1:156338639-156338689	CMK	blood:	n/a
32	chr1:156339286-156339336	PrEC	prostate:	n/a
33	chr1:156342739-156342789	AG04450	lung:	fetal
34	chr1:156338775-156338825	AG09309	skin:	n/a
35	chr1:156337523-156337573	HepG2	liver:	n/a
36	chr1:156338793-156338843	PANC-1	pancreas:	n/a
37	chr1:156338639-156338689	HCPEpiC	choroid plexus:	n/a
38	chr1:156339198-156339248	HepG2	liver:	n/a
39	chr1:156337523-156337573	AG04450	lung:	fetal
40	chr1:156339250-156339300	SK-N-MC	brain:	n/a
41	chr1:156338775-156338825	PFSK-1	brain:	n/a
42	chr1:156338775-156338825	HMEC	breast:	n/a
43	chr1:156338793-156338843	HRE	kidney:	n/a
44	chr1:156337755-156337805	AG09309	skin:	n/a
45	chr1:156338793-156338843	NH-A	brain:	n/a
46	chr1:156338775-156338825	HEK293	kidney:	embryo
47	chr1:156339250-156339300	LNCaP	prostate:	n/a
48	chr1:156341523-156341573	HEK293	kidney:	embryo
49	chr1:156339286-156339336	HIPEpiC	eye:	n/a
50	chr1:156338826-156338876	SK-N-SH_RA	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:156337671..156339481-chr1:156346808..156350100,3	MCF-7	breast:
2	chr1:156341941..156343974-chr1:156352114..156354913,2	K562	blood:
3	chr1:156326470..156327323-chr1:156349022..156349845,2	MCF-7	breast:
4	chr1:156352086..156353955-chr1:156559602..156561558,2	MCF-7	breast:
5	chr1:156326557..156327290-chr1:156342036..156342992,2	MCF-7	breast:
6	chr1:156335306..156343282-chr1:156347773..156352892,8	MCF-7	breast:
7	chr1:156345928..156348764-chr1:156349547..156351652,4	MCF-7	breast:
8	chr1:156352640..156353913-chr1:156415404..156416069,4	MCF-7	breast:
9	chr1:156353856..156355497-chr1:156408639..156410437,2	MCF-7	breast:
10	chr1:156326059..156327337-chr1:156348953..156349939,7	MCF-7	breast:
11	chr1:156353012..156356509-chr1:156369075..156371799,3	K562	blood:
12	chr1:156304937..156307794-chr1:156336669..156339422,4	MCF-7	breast:
13	chr1:156351422..156354459-chr1:156356280..156359051,3	MCF-7	breast:
14	chr1:156352946..156353454-chr1:156553916..156554882,2	K562	blood:
15	chr1:156335306..156343282-chr1:156347773..156352892,8	MCF-7	breast:
16	chr1:156347035..156349365-chr1:156350984..156352761,2	MCF-7	breast:
17	chr1:156352466..156354083-chr1:156414960..156416552,12	K562	blood:
18	chr1:156353695..156354462-chr1:156414341..156414857,2	MCF-7	breast:
19	chr1:156306853..156309380-chr1:156334458..156336169,2	MCF-7	breast:
20	chr1:156326555..156327337-chr1:156352441..156353203,2	MCF-7	breast:
21	chr1:156305358..156309501-chr1:156336177..156340436,7	MCF-7	breast:
22	chr1:156341941..156343974-chr1:156352114..156354913,2	K562	blood:
23	chr1:156336150..156338110-chr1:156609529..156611837,2	K562	blood:
24	chr1:156347168..156350836-chr1:156351074..156354205,3	K562	blood:
25	chr1:156352496..156353414-chr1:156578574..156579104,2	K562	blood:
26	chr1:156349182..156349929-chr1:156415386..156415913,2	MCF-7	breast:
27	chr1:156326525..156327327-chr1:156352210..156353356,4	MCF-7	breast:
28	chr1:156352334..156353343-chr1:156414003..156414885,7	MCF-7	breast:
29	chr1:156352457..156353496-chr1:156413951..156414840,5	K562	blood:
30	chr1:156345928..156348764-chr1:156349547..156351652,4	MCF-7	breast:
31	chr1:156308782..156311219-chr1:156333670..156336755,3	MCF-7	breast:
32	chr1:156349574..156351386-chr1:156425106..156426967,2	K562	blood:
33	chr1:156353973..156356969-chr1:156359143..156362036,2	MCF-7	breast:
34	chr1:156334205..156335890-chr1:156471354..156474006,2	MCF-7	breast:
35	chr1:156347966..156349705-chr1:156414234..156416571,2	K562	blood:
36	chr1:156351935..156356814-chr1:156357116..156361846,4	MCF-7	breast:
37	chr1:156337757..156339382-chr1:156424916..156426755,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1orf182-1	chr1:156352104-156352660	NONHSAT006846
2	lnc-C1orf182-1	chr1:156354232-156354395	NONHSAT006846

Variant related genes	Relation type
ENSG00000237390	TF binding region
RHBG	TF binding region
CCT3	TF binding region
ENSG00000237390	CpG island
RHBG	CpG island
CCT3	CpG island
ENSG00000132677	chromatin interactions
ENSG00000272068	chromatin interactions
ENSG00000236947	chromatin interactions
ENSG00000132692	chromatin interactions
ENSG00000163468	chromatin interactions
ENSG00000237390	chromatin interactions
ENSG00000163467	chromatin interactions
ENSG00000187862	chromatin interactions
ENSG00000163382	chromatin interactions

Extended variants
information (count: 764 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:764 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2764406	chr1:156335111-156335112	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs538899986	chr1:156335140-156335141	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs74446816	chr1:156335149-156335150	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs558802668	chr1:156335262-156335263	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs192434897	chr1:156335273-156335274	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs142395284	chr1:156335278-156335279	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs538697922	chr1:156335286-156335287	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs114873308	chr1:156335323-156335324	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs568843518	chr1:156335358-156335359	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs536270225	chr1:156335359-156335360	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs184463796	chr1:156335379-156335380	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs151310617	chr1:156335423-156335424	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs534273281	chr1:156335488-156335489	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs139412134	chr1:156335496-156335497	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs577024989	chr1:156335533-156335534	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs6693107	chr1:156335535-156335536	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs544268824	chr1:156335554-156335555	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs562655826	chr1:156335618-156335619	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs574623607	chr1:156335619-156335620	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs397860798	chr1:156335706-156335707	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs542184751	chr1:156335732-156335733	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs560331655	chr1:156335738-156335739	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs528376209	chr1:156335821-156335822	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs564649605	chr1:156335824-156335825	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs190554049	chr1:156335845-156335846	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs546585594	chr1:156335860-156335861	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs565027029	chr1:156335882-156335883	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs116475985	chr1:156335927-156335928	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs550662537	chr1:156335928-156335929	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs181906208	chr1:156335969-156335970	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs145712139	chr1:156335970-156335971	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs548167592	chr1:156335974-156335975	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs566386970	chr1:156335975-156335976	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs534465823	chr1:156335985-156335986	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs559007744	chr1:156336043-156336044	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs1536096	chr1:156336044-156336045	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs550409389	chr1:156336069-156336070	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs376221183	chr1:156336081-156336082	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs543413452	chr1:156336105-156336106	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs370764164	chr1:156336107-156336108	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs538031201	chr1:156336132-156336133	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs2842856	chr1:156336133-156336134	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs376920572	chr1:156336192-156336193	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs569108959	chr1:156336221-156336222	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs368422305	chr1:156336295-156336296	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs541997740	chr1:156336356-156336357	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs532419597	chr1:156336357-156336358	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs554094426	chr1:156336374-156336375	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs536586201	chr1:156336471-156336472	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs572354067	chr1:156336549-156336550	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Dihydropyrimidine dehydrogenase deficiency	18421352	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:520 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:156327600-156336600	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr1:156327600-156336600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:156330800-156335200	Weak transcription	Fetal Intestine Large	intestine
4	chr1:156330800-156335800	Weak transcription	Fetal Intestine Small	intestine
5	chr1:156334200-156335600	Enhancers	HepG2	liver
6	chr1:156334600-156335600	Weak transcription	Pancreas	Pancrea
7	chr1:156334800-156336000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:156335200-156337200	Enhancers	Fetal Intestine Large	intestine
9	chr1:156335600-156335800	Enhancers	Esophagus	oesophagus
10	chr1:156335600-156336000	Enhancers	Pancreas	Pancrea
11	chr1:156335600-156336200	Enhancers	Ovary	ovary
12	chr1:156335600-156337800	Flanking Active TSS	HepG2	liver
13	chr1:156335800-156338600	Weak transcription	Esophagus	oesophagus
14	chr1:156335800-156338600	Enhancers	Fetal Intestine Small	intestine
15	chr1:156336000-156336200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:156336000-156338000	Weak transcription	Pancreas	Pancrea
17	chr1:156336200-156337000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:156336200-156338400	Weak transcription	Ovary	ovary
19	chr1:156336400-156337200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr1:156336400-156339000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:156336600-156336800	Enhancers	H1 Cell Line	embryonic stem cell
22	chr1:156336600-156336800	Enhancers	Liver	Liver
23	chr1:156336600-156337000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:156336600-156337000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:156336600-156337200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:156336600-156337400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:156336600-156338000	Enhancers	A549	lung
28	chr1:156336600-156338200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr1:156336800-156337400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr1:156336800-156338200	Weak transcription	Liver	Liver
31	chr1:156336800-156338200	Enhancers	K562	blood
32	chr1:156336800-156339200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:156337000-156337200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:156337000-156337200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
35	chr1:156337000-156337400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr1:156337000-156338000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr1:156337000-156338800	Enhancers	Placenta Amnion	Placenta Amnion
38	chr1:156337200-156337400	Flanking Active TSS	Fetal Intestine Large	intestine
39	chr1:156337200-156337800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:156337200-156339000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:156337400-156337800	Enhancers	Fetal Intestine Large	intestine
42	chr1:156337400-156338200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr1:156337400-156338200	Enhancers	Hela-S3	cervix
44	chr1:156337400-156338600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:156337600-156339000	Enhancers	Fetal Lung	lung
46	chr1:156337800-156338000	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr1:156337800-156338200	Flanking Active TSS	Fetal Intestine Large	intestine
48	chr1:156337800-156338800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
49	chr1:156337800-156339000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:156337800-156339000	Active TSS	HepG2	liver

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