Variant report

Variant	esv1793632
Chromosome Location	chr1:156338992-156366178
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	chr1:156355522-156355681	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:156341385-156342160	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:156355483-156355700	K562	blood:	n/a	n/a
4	ATF1	chr1:156351083-156351204	K562	blood:	n/a	n/a
5	BACH1	chr1:156358393-156358600	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr1:156357888-156358084	H1-hESC	embryonic stem cell:	n/a	n/a
7	BHLHE40	chr1:156341494-156342165	HepG2	liver:	n/a	n/a
8	BHLHE40	chr1:156352823-156353073	K562	blood:	n/a	n/a
9	BHLHE40	chr1:156352790-156353086	GM12878	blood:	n/a	n/a
10	BRCA1	chr1:156355592-156355614	HepG2	liver:	n/a	n/a
11	BRCA1	chr1:156339119-156339144	HepG2	liver:	n/a	n/a
12	BRCA1	chr1:156359515-156359573	HepG2	liver:	n/a	n/a
13	BRCA1	chr1:156352861-156353013	Hela-S3	cervix:	n/a	n/a
14	BRCA1	chr1:156355516-156355548	GM12878	blood:	n/a	n/a
15	BRCA1	chr1:156355489-156355736	Hela-S3	cervix:	n/a	n/a
16	CBX3	chr1:156345895-156346137	K562	blood:	n/a	n/a
17	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
18	CEBPB	chr1:156341324-156342094	HepG2	liver:	n/a	n/a
19	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
20	CEBPB	chr1:156341666-156341985	HepG2	liver:	n/a	n/a
21	CEBPB	chr1:156341303-156341719	K562	blood:	n/a	n/a
22	CEBPB	chr1:156341440-156341654	K562	blood:	n/a	n/a
23	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
24	CEBPB	chr1:156341236-156342035	HepG2	liver:	n/a	n/a
25	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
26	CEBPB	chr1:156341219-156341828	A549	lung:	n/a	n/a
27	CEBPB	chr1:156341412-156341766	A549	lung:	n/a	n/a
28	CEBPB	chr1:156341285-156341779	MCF-7	breast:	n/a	n/a
29	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
30	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
31	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
32	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
33	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
34	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
35	CEBPB	chr1:156341357-156341705	IMR90	lung:	n/a	n/a
36	CEBPB	chr1:156341341-156341661	ECC-1	luminal epithelium:	n/a	n/a
37	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
38	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
39	CEBPB	chr1:156341360-156341632	HepG2	liver:	n/a	n/a
40	CEBPB	chr1:156341399-156341691	H1-hESC	embryonic stem cell:	n/a	n/a
41	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
42	CEBPB	chr1:156341342-156341722	Hela-S3	cervix:	n/a	n/a
43	CEBPB	chr1:156341390-156341828	MCF-7	breast:	n/a	n/a
44	CEBPB	chr1:156341406-156341668	ECC-1	luminal epithelium:	n/a	n/a
45	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
46	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
47	CEBPB	chr1:156341372-156341711	A549	lung:	n/a	n/a
48	CEBPB	chr1:156341328-156341720	K562	blood:	n/a	n/a
49	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
50	CEBPB	chr1:156341237-156342103	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:156354946-156354996	AoSMC	blood vessel:	n/a
2	chr1:156354946-156354996	AoSMC	blood vessel:	n/a
3	chr1:156354946-156354996	U87	brain:	n/a
4	chr1:156358408-156358458	HCM	heart:	n/a
5	chr1:156358408-156358458	CMK	blood:	n/a
6	chr1:156358231-156358281	PANC-1	pancreas:	n/a
7	chr1:156361263-156361313	BJ	skin:	n/a
8	chr1:156357871-156357921	ECC-1	luminal epithelium:	n/a
9	chr1:156357839-156357889	GM12892	blood:	n/a
10	chr1:156339286-156339336	HL-60	blood:	n/a
11	chr1:156357839-156357889	AG09319	gingival:	n/a
12	chr1:156358059-156358109	AG04450	lung:	fetal
13	chr1:156357839-156357889	HRCEpiC	kidney:	n/a
14	chr1:156358059-156358109	SK-N-MC	brain:	n/a
15	chr1:156358404-156358454	ovcar-3	ovarian:	n/a
16	chr1:156341523-156341573	HMEC	breast:	n/a
17	chr1:156358116-156358166	HCM	heart:	n/a
18	chr1:156339011-156339061	H1-hESC	embryonic stem cell:	embryo
19	chr1:156361263-156361313	RPTEC	kidney:	n/a
20	chr1:156354946-156354996	AG09319	gingival:	n/a
21	chr1:156358066-156358116	NHDF-neo	bronchial:	n/a
22	chr1:156342739-156342789	A549	lung:	n/a
23	chr1:156358231-156358281	SKMC	muscle:	n/a
24	chr1:156359253-156359303	RPTEC	kidney:	n/a
25	chr1:156358119-156358169	PrEC	prostate:	n/a
26	chr1:156339286-156339336	GM12892	blood:	n/a
27	chr1:156358231-156358281	PFSK-1	brain:	n/a
28	chr1:156342739-156342789	SKMC	muscle:	n/a
29	chr1:156358066-156358116	K562	blood:	n/a
30	chr1:156339198-156339248	NB4	blood:	n/a
31	chr1:156357905-156357955	AG10803	skin:	n/a
32	chr1:156358612-156358662	SK-N-SH_RA	brain:	n/a
33	chr1:156358119-156358169	Jurkat	blood:	n/a
34	chr1:156339250-156339300	GM19239	blood:	n/a
35	chr1:156358059-156358109	NT2-D1	testis:	n/a
36	chr1:156358612-156358662	GM19239	blood:	n/a
37	chr1:156339011-156339061	ProgFib	skin:	n/a
38	chr1:156358059-156358109	AG10803	skin:	n/a
39	chr1:156358404-156358454	HEK293	kidney:	embryo
40	chr1:156339198-156339248	MCF-7	breast:	n/a
41	chr1:156357905-156357955	ECC-1	luminal epithelium:	n/a
42	chr1:156339011-156339061	SAEC	small airway:	n/a
43	chr1:156359253-156359303	NHBE	bronchial:	n/a
44	chr1:156357839-156357889	PANC-1	pancreas:	n/a
45	chr1:156339286-156339336	SK-N-MC	brain:	n/a
46	chr1:156357905-156357955	GM12878	blood:	n/a
47	chr1:156339198-156339248	BJ	skin:	n/a
48	chr1:156357905-156357955	HIPEpiC	eye:	n/a
49	chr1:156358404-156358454	CMK	blood:	n/a
50	chr1:156342739-156342789	ECC-1	luminal epithelium:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:156345928..156348764-chr1:156349547..156351652,4	MCF-7	breast:
2	chr1:156337671..156339481-chr1:156346808..156350100,3	MCF-7	breast:
3	chr1:156351935..156356814-chr1:156357116..156361846,4	MCF-7	breast:
4	chr1:156355128..156357826-chr1:156359937..156361792,2	K562	blood:
5	chr1:156326059..156327337-chr1:156348953..156349939,7	MCF-7	breast:
6	chr1:156354560..156356442-chr1:156413449..156414910,21	MCF-7	breast:
7	chr1:156335306..156343282-chr1:156347773..156352892,8	MCF-7	breast:
8	chr1:156356803..156357690-chr1:156414978..156415617,2	MCF-7	breast:
9	chr1:156353856..156355497-chr1:156408639..156410437,2	MCF-7	breast:
10	chr1:156326525..156327327-chr1:156352210..156353356,4	MCF-7	breast:
11	chr1:156353973..156356969-chr1:156359143..156362036,2	MCF-7	breast:
12	chr1:156353695..156354462-chr1:156414341..156414857,2	MCF-7	breast:
13	chr1:156355670..156358166-chr1:156425378..156427793,3	MCF-7	breast:
14	chr1:156305358..156309501-chr1:156336177..156340436,7	MCF-7	breast:
15	chr1:156335306..156343282-chr1:156347773..156352892,8	MCF-7	breast:
16	chr1:156359922..156361575-chr1:156390944..156393006,2	K562	blood:
17	chr1:156355137..156356034-chr1:156577563..156578509,3	K562	blood:
18	chr1:156355060..156356126-chr1:156415099..156416286,7	MCF-7	breast:
19	chr1:156352457..156353496-chr1:156413951..156414840,5	K562	blood:
20	chr1:156347168..156350836-chr1:156351074..156354205,3	K562	blood:
21	chr1:156359136..156362135-chr1:156391465..156393783,2	MCF-7	breast:
22	chr1:156306263..156308908-chr1:156356980..156360261,3	K562	blood:
23	chr1:156354665..156356394-chr1:156415124..156416411,26	MCF-7	breast:
24	chr1:156345928..156348764-chr1:156349547..156351652,4	MCF-7	breast:
25	chr1:156359850..156362270-chr1:156362434..156364882,2	MCF-7	breast:
26	chr1:156355534..156356071-chr1:156363514..156364451,2	K562	blood:
27	chr1:156341941..156343974-chr1:156352114..156354913,2	K562	blood:
28	chr1:156353012..156356509-chr1:156369075..156371799,3	K562	blood:
29	chr1:156351422..156354459-chr1:156356280..156359051,3	MCF-7	breast:
30	chr1:156352466..156354083-chr1:156414960..156416552,12	K562	blood:
31	chr1:156349182..156349929-chr1:156415386..156415913,2	MCF-7	breast:
32	chr1:156353973..156356969-chr1:156359143..156362036,2	MCF-7	breast:
33	chr1:156326470..156327323-chr1:156349022..156349845,2	MCF-7	breast:
34	chr1:156359850..156362270-chr1:156362434..156364882,2	MCF-7	breast:
35	chr1:156351422..156354459-chr1:156356280..156359051,3	MCF-7	breast:
36	chr1:156360548..156363441-chr1:156373892..156375750,2	K562	blood:
37	chr1:156347966..156349705-chr1:156414234..156416571,2	K562	blood:
38	chr1:156326555..156327337-chr1:156352441..156353203,2	MCF-7	breast:
39	chr1:156355128..156357826-chr1:156359937..156361792,2	K562	blood:
40	chr1:156349574..156351386-chr1:156425106..156426967,2	K562	blood:
41	chr1:156360686..156364321-chr1:156408945..156411695,3	K562	blood:
42	chr1:156351935..156356814-chr1:156357116..156361846,4	MCF-7	breast:
43	chr1:156352946..156353454-chr1:156553916..156554882,2	K562	blood:
44	chr1:156337757..156339382-chr1:156424916..156426755,2	MCF-7	breast:
45	chr1:156326557..156327290-chr1:156342036..156342992,2	MCF-7	breast:
46	chr1:156355090..156356076-chr1:156370874..156371730,2	K562	blood:
47	chr1:156347035..156349365-chr1:156350984..156352761,2	MCF-7	breast:
48	chr1:156341941..156343974-chr1:156352114..156354913,2	K562	blood:
49	chr1:156352640..156353913-chr1:156415404..156416069,4	MCF-7	breast:
50	chr1:156361774..156363319-chr1:156369865..156371660,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1orf61-1	chr1:156364041-156364558	l_136_chr1:156363527-156364558_testes
2	lnc-C1orf61-1	chr1:156363764-156364034	l_136_chr1:156363527-156364558_testes
3	lnc-C1orf61-1	chr1:156363528-156363580	l_136_chr1:156363527-156364558_testes
4	lnc-C1orf182-1	chr1:156352104-156352660	NONHSAT006846
5	lnc-C1orf182-1	chr1:156354232-156354395	NONHSAT006846
6	lnc-RHBG-1	chr1:156358018-156358155	ENSG00000237390
7	lnc-RHBG-1	chr1:156359954-156365401	ENSG00000237390

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
ENSG00000163467	chromatin interactions
ENSG00000237390	chromatin interactions
ENSG00000163382	chromatin interactions
ENSG00000132677	chromatin interactions
ENSG00000125462	chromatin interactions
ENSG00000163468	chromatin interactions
ENSG00000236947	chromatin interactions
ENSG00000187862	chromatin interactions
EXOC4	miRNA target sites
ABCA1	miRNA target sites

Extended variants
information (count: 1065 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:1065 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369019863	chr1:156339016-156339017	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs373478706	chr1:156339025-156339026	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs184591286	chr1:156339035-156339036	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs201291978	chr1:156339047-156339048	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs375621864	chr1:156339055-156339056	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs199577193	chr1:156339081-156339082	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs199819625	chr1:156339082-156339083	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs200731197	chr1:156339083-156339084	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs377604432	chr1:156339103-156339104	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs370660351	chr1:156339142-156339143	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs375087227	chr1:156339143-156339144	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs202003473	chr1:156339147-156339148	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs567659313	chr1:156339149-156339150	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs535341603	chr1:156339166-156339167	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs371716339	chr1:156339169-156339170	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs374695337	chr1:156339247-156339248	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs368796347	chr1:156339249-156339250	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs565502368	chr1:156339309-156339310	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs559590025	chr1:156339344-156339345	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs56027890	chr1:156339378-156339379	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs397803894	chr1:156339381-156339382	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs188173257	chr1:156339434-156339435	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs4661159	chr1:156339487-156339488	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs575729047	chr1:156339497-156339498	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs540103709	chr1:156339519-156339520	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs543545001	chr1:156339537-156339538	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs530343417	chr1:156339565-156339566	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs542016280	chr1:156339579-156339580	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs74609238	chr1:156339582-156339583	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs191178822	chr1:156339583-156339584	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs79788381	chr1:156339591-156339592	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs541336147	chr1:156339648-156339649	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs142787918	chr1:156339649-156339650	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs560013394	chr1:156339697-156339698	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs184765463	chr1:156339698-156339699	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs533693520	chr1:156339736-156339737	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs545613438	chr1:156339752-156339753	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs74229290	chr1:156339756-156339757	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs77115412	chr1:156339776-156339777	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs146050212	chr1:156339845-156339846	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs567523642	chr1:156339874-156339875	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs528501139	chr1:156339878-156339879	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs12048396	chr1:156339935-156339936	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs367876027	chr1:156339966-156339967	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs538375407	chr1:156339967-156339968	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs546714016	chr1:156339968-156339969	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs139786238	chr1:156340022-156340023	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs189274869	chr1:156340038-156340039	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs149364770	chr1:156340045-156340046	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs181850252	chr1:156340055-156340056	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

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

Chromatin state (count:881 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:156336400-156339000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:156336800-156339200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:156337200-156339000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:156337600-156339000	Enhancers	Fetal Lung	lung
5	chr1:156337800-156339000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:156337800-156339000	Active TSS	HepG2	liver
7	chr1:156338000-156339000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:156338000-156339000	Bivalent Enhancer	Placenta	Placenta
9	chr1:156338200-156339000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:156338200-156339000	Weak transcription	K562	blood
11	chr1:156338200-156341400	Weak transcription	Hela-S3	cervix
12	chr1:156338600-156339000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
13	chr1:156338600-156339000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
14	chr1:156338600-156339000	Enhancers	Primary hematopoietic stem cells	blood
15	chr1:156338600-156339000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:156338600-156339000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
17	chr1:156338600-156339000	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
18	chr1:156338600-156339000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr1:156338600-156339000	Active TSS	Pancreas	Pancrea
20	chr1:156338600-156339000	Active TSS	Right Ventricle	heart
21	chr1:156338600-156339000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
22	chr1:156338600-156339200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
23	chr1:156338600-156339200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
24	chr1:156338600-156339200	Bivalent Enhancer	Fetal Brain Male	brain
25	chr1:156338600-156339200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
26	chr1:156338600-156339200	Active TSS	NHEK	skin
27	chr1:156338600-156339400	Active TSS	H9 Cell Line	embryonic stem cell
28	chr1:156338600-156339400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
29	chr1:156338600-156339400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:156338600-156339400	Active TSS	Duodenum Mucosa	Duodenum
31	chr1:156338600-156339400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
32	chr1:156338600-156339600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr1:156338600-156339600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:156338600-156339600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:156338600-156339600	Flanking Active TSS	Ovary	ovary
36	chr1:156338600-156339600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
37	chr1:156338600-156339800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
38	chr1:156338600-156339800	Flanking Active TSS	Liver	Liver
39	chr1:156338800-156339000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:156338800-156339000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr1:156338800-156339000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr1:156338800-156339000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
43	chr1:156338800-156339000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
44	chr1:156338800-156339000	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
45	chr1:156338800-156339000	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr1:156338800-156339000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
47	chr1:156338800-156339000	Bivalent Enhancer	Aorta	Aorta
48	chr1:156338800-156339000	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr1:156338800-156339000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
50	chr1:156338800-156339000	Bivalent/Poised TSS	Fetal Brain Female	brain

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