Variant report

Variant	esv1813933
Chromosome Location	chr6:33587443-33614127
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1042)
CpG islands
(count:1587)
Chromatin interactive
region (count:73)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1042 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:33601811-33601841	K562	blood:	n/a	n/a
2	ARID3A	chr6:33600381-33600664	HepG2	liver:	n/a	n/a
3	ARID3A	chr6:33602323-33602498	HepG2	liver:	n/a	n/a
4	BACH1	chr6:33589863-33589941	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr6:33600329-33600511	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr6:33589210-33589636	H1-hESC	embryonic stem cell:	n/a	n/a
7	BHLHE40	chr6:33590893-33591071	GM12878	blood:	n/a	n/a
8	BHLHE40	chr6:33601293-33601665	GM12878	blood:	n/a	n/a
9	BHLHE40	chr6:33588743-33588841	K562	blood:	n/a	n/a
10	BHLHE40	chr6:33588787-33589175	GM12878	blood:	n/a	n/a
11	BHLHE40	chr6:33589438-33589557	K562	blood:	n/a	n/a
12	BHLHE40	chr6:33602275-33602478	HepG2	liver:	n/a	n/a
13	BHLHE40	chr6:33601384-33602063	K562	blood:	n/a	n/a
14	BRCA1	chr6:33588000-33588122	GM12878	blood:	n/a	n/a
15	BRCA1	chr6:33600513-33600526	HepG2	liver:	n/a	n/a
16	BRCA1	chr6:33602074-33602219	HepG2	liver:	n/a	n/a
17	CBX3	chr6:33600238-33600805	K562	blood:	n/a	n/a
18	CBX3	chr6:33588449-33589158	K562	blood:	n/a	n/a
19	CCNT2	chr6:33601006-33601935	K562	blood:	n/a	n/a
20	CCNT2	chr6:33588608-33589696	K562	blood:	n/a	n/a
21	CEBPB	chr6:33588359-33588710	HepG2	liver:	n/a	chr6:33588550-33588559 chr6:33588550-33588559 chr6:33588550-33588559 chr6:33588549-33588560 chr6:33588550-33588559
22	CEBPB	chr6:33588251-33589583	Hela-S3	cervix:	n/a	chr6:33588550-33588559 chr6:33588550-33588559 chr6:33588550-33588559 chr6:33588549-33588560 chr6:33588550-33588559
23	CEBPB	chr6:33591121-33591323	HepG2	liver:	n/a	chr6:33591159-33591170
24	CEBPB	chr6:33588358-33588743	K562	blood:	n/a	chr6:33588550-33588559 chr6:33588550-33588559 chr6:33588550-33588559 chr6:33588549-33588560 chr6:33588550-33588559
25	CEBPB	chr6:33588174-33588710	ECC-1	luminal epithelium:	n/a	chr6:33588550-33588559 chr6:33588550-33588559 chr6:33588550-33588559 chr6:33588549-33588560 chr6:33588550-33588559
26	CEBPB	chr6:33588358-33588713	A549	lung:	n/a	chr6:33588550-33588559 chr6:33588550-33588559 chr6:33588550-33588559 chr6:33588549-33588560 chr6:33588550-33588559
27	CEBPB	chr6:33588322-33588675	K562	blood:	n/a	chr6:33588550-33588559 chr6:33588550-33588559 chr6:33588550-33588559 chr6:33588549-33588560 chr6:33588550-33588559
28	CEBPB	chr6:33588353-33588695	H1-hESC	embryonic stem cell:	n/a	chr6:33588550-33588559 chr6:33588550-33588559 chr6:33588550-33588559 chr6:33588549-33588560 chr6:33588550-33588559
29	CEBPB	chr6:33590766-33591353	Hela-S3	cervix:	n/a	chr6:33591159-33591170
30	CEBPB	chr6:33588316-33588671	ECC-1	luminal epithelium:	n/a	chr6:33588550-33588559 chr6:33588550-33588559 chr6:33588550-33588559 chr6:33588549-33588560 chr6:33588550-33588559
31	CEBPB	chr6:33590991-33591326	IMR90	lung:	n/a	chr6:33591159-33591170
32	CEBPB	chr6:33591019-33591279	A549	lung:	n/a	chr6:33591159-33591170
33	CEBPB	chr6:33591034-33591321	K562	blood:	n/a	chr6:33591159-33591170
34	CEBPB	chr6:33588361-33588727	IMR90	lung:	n/a	chr6:33588550-33588559 chr6:33588550-33588559 chr6:33588550-33588559 chr6:33588549-33588560 chr6:33588550-33588559
35	CEBPD	chr6:33601627-33602131	K562	blood:	n/a	n/a
36	CHD1	chr6:33588173-33588701	H1-hESC	embryonic stem cell:	n/a	n/a
37	CHD1	chr6:33588273-33588979	GM12878	blood:	n/a	n/a
38	CHD2	chr6:33590973-33591060	Hela-S3	cervix:	n/a	n/a
39	CHD2	chr6:33590868-33591001	GM12878	blood:	n/a	n/a
40	CHD2	chr6:33587841-33589491	Hela-S3	cervix:	n/a	n/a
41	CHD2	chr6:33588609-33589047	K562	blood:	n/a	n/a
42	CHD2	chr6:33600362-33600614	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD2	chr6:33601382-33601590	Hela-S3	cervix:	n/a	chr6:33601437-33601447
44	CHD2	chr6:33601338-33601397	GM12878	blood:	n/a	n/a
45	CHD2	chr6:33595738-33595848	Hela-S3	cervix:	n/a	n/a
46	CHD2	chr6:33589576-33589719	GM12878	blood:	n/a	n/a
47	CREB1	chr6:33601229-33601557	A549	lung:	n/a	n/a
48	CREB1	chr6:33588850-33589288	A549	lung:	n/a	n/a
49	CTBP2	chr6:33600361-33601419	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTBP2	chr6:33588552-33589028	H1-hESC	embryonic stem cell:	n/a	n/a

(count:1587 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:33609240-33609290	SK-N-SH_RA	brain:	n/a
2	chr6:33609240-33609290	SK-N-SH_RA	brain:	n/a
3	chr6:33601863-33601913	AG10803	skin:	n/a
4	chr6:33587496-33587546	SAEC	small airway:	n/a
5	chr6:33588932-33588982	CMK	blood:	n/a
6	chr6:33589691-33589741	Hela-S3	cervix:	n/a
7	chr6:33598003-33598053	AG04449	skin:	fetal
8	chr6:33601722-33601772	HRPEpiC	eye:	n/a
9	chr6:33588875-33588925	HRE	kidney:	n/a
10	chr6:33595160-33595210	AG10803	skin:	n/a
11	chr6:33588932-33588982	AG04449	skin:	fetal
12	chr6:33604664-33604714	AG10803	skin:	n/a
13	chr6:33601722-33601772	AG10803	skin:	n/a
14	chr6:33587496-33587546	HepG2	liver:	n/a
15	chr6:33588875-33588925	RPTEC	kidney:	n/a
16	chr6:33595160-33595210	CMK	blood:	n/a
17	chr6:33589118-33589168	HPAEpiC	pulmonary alveolar:	n/a
18	chr6:33592658-33592708	MCF-7	breast:	n/a
19	chr6:33589131-33589181	T-47D	breast:	n/a
20	chr6:33595160-33595210	Caco-2	colon:	n/a
21	chr6:33595160-33595210	ovcar-3	ovarian:	n/a
22	chr6:33588944-33588994	BJ	skin:	n/a
23	chr6:33590458-33590508	LNCaP	prostate:	n/a
24	chr6:33589061-33589111	HUVEC	blood vessel:	n/a
25	chr6:33589691-33589741	AG09309	skin:	n/a
26	chr6:33589131-33589181	NB4	blood:	n/a
27	chr6:33590458-33590508	HMEC	breast:	n/a
28	chr6:33601177-33601227	T-47D	breast:	n/a
29	chr6:33601722-33601772	HRCEpiC	kidney:	n/a
30	chr6:33595160-33595210	ECC-1	luminal epithelium:	n/a
31	chr6:33589418-33589468	AG10803	skin:	n/a
32	chr6:33601177-33601227	AG04450	lung:	fetal
33	chr6:33589418-33589468	AoSMC	blood vessel:	n/a
34	chr6:33588944-33588994	SK-N-SH_RA	brain:	n/a
35	chr6:33588944-33588994	HAEpiC	amniotic membrane:	n/a
36	chr6:33601177-33601227	RPTEC	kidney:	n/a
37	chr6:33589691-33589741	AoSMC	blood vessel:	n/a
38	chr6:33588944-33588994	GM06990	blood:	n/a
39	chr6:33592658-33592708	HMEC	breast:	n/a
40	chr6:33589061-33589111	AG04450	lung:	fetal
41	chr6:33589030-33589080	HEEpiC	esophagus:	n/a
42	chr6:33589131-33589181	Caco-2	colon:	n/a
43	chr6:33589691-33589741	ovcar-3	ovarian:	n/a
44	chr6:33601863-33601913	GM19239	blood:	n/a
45	chr6:33588278-33588328	H1-hESC	embryonic stem cell:	embryo
46	chr6:33588219-33588269	A549	lung:	n/a
47	chr6:33588944-33588994	H1-hESC	embryonic stem cell:	embryo
48	chr6:33588944-33588994	Jurkat	blood:	n/a
49	chr6:33588302-33588352	HepG2	liver:	n/a
50	chr6:33589118-33589168	MCF-7	breast:	n/a

(count:73 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr6:33606855..33609657-chr6:33651468..33653388,2	K562	blood:
2	chr6:33595746..33598066-chr6:33631456..33633008,2	K562	blood:
3	chr6:13574530..13575381-chr6:33588931..33589769,3	Hela-S3	cervix:
4	chr6:33581288..33583329-chr6:33600315..33602072,2	K562	blood:
5	chr11:18548286..18548983-chr6:33612691..33613199,2	Hela-S3	cervix:
6	chr6:33389729..33391782-chr6:33598906..33600779,2	K562	blood:
7	chr6:33591444..33593471-chr6:33595633..33598243,2	MCF-7	breast:
8	chr6:33576269..33579262-chr6:33600060..33601906,2	MCF-7	breast:
9	chr6:33598960..33600739-chr6:33624531..33626836,2	K562	blood:
10	chr6:33589679..33592438-chr6:33605298..33608151,2	MCF-7	breast:
11	chr6:33555453..33558278-chr6:33607870..33609566,2	K562	blood:
12	chr6:33601381..33603643-chr6:33673390..33675664,2	K562	blood:
13	chr6:33602810..33605729-chr6:33607215..33609407,2	MCF-7	breast:
14	chr6:33600933..33606541-chr6:33607486..33611147,7	K562	blood:
15	chr6:33600933..33606541-chr6:33607486..33611147,7	K562	blood:
16	chr6:33557311..33558097-chr6:33600135..33601024,5	MCF-7	breast:
17	chr6:33561576..33563352-chr6:33589353..33591952,2	K562	blood:
18	chr12:77458598..77459505-chr6:33588247..33588790,2	Hela-S3	cervix:
19	chr6:33586212..33588848-chr6:33589323..33592935,3	K562	blood:
20	chr17:56735246..56737826-chr6:33586590..33589099,2	MCF-7	breast:
21	chr6:33602974..33604582-chr6:33713029..33714944,2	MCF-7	breast:
22	chr6:33589305..33592124-chr6:33949466..33952412,2	MCF-7	breast:
23	chr6:33557345..33558657-chr6:33600025..33600783,6	MCF-7	breast:
24	chr6:33612102..33615096-chr6:33621382..33624139,2	K562	blood:
25	chr14:75745307..75745924-chr6:33588441..33589108,2	Hela-S3	cervix:
26	chr6:33594027..33596927-chr6:33599242..33602574,3	MCF-7	breast:
27	chr17:44270863..44271390-chr6:33589321..33590284,2	Hela-S3	cervix:
28	chr6:33587976..33588692-chr7:152372698..152373478,2	Hela-S3	cervix:
29	chr15:73925194..73925924-chr6:33589142..33589802,2	Hela-S3	cervix:
30	chr18:18691523..18692461-chr6:33588062..33589054,2	Hela-S3	cervix:
31	chr6:33546546..33549178-chr6:33588334..33590241,2	K562	blood:
32	chr6:33608220..33611008-chr6:33669548..33671759,2	K562	blood:
33	chr6:33594027..33596927-chr6:33599242..33602574,3	MCF-7	breast:
34	chr6:33557315..33558057-chr6:33600224..33600962,3	K562	blood:
35	chr6:33587172..33590152-chr6:34203876..34205466,2	K562	blood:
36	chr6:33559235..33561175-chr6:33600518..33603338,2	K562	blood:
37	chr6:33587667..33592228-chr6:33677016..33679936,5	MCF-7	breast:
38	chr6:33550022..33555745-chr6:33586647..33590467,5	MCF-7	breast:
39	chr6:33590320..33593181-chr6:33667665..33670096,2	MCF-7	breast:
40	chr6:33588748..33590902-chr6:33677628..33680104,3	K562	blood:
41	chr6:33603701..33605977-chr6:33619846..33621457,2	K562	blood:
42	chr6:33587615..33592788-chr6:33598465..33603336,10	MCF-7	breast:
43	chr6:33611230..33613955-chr6:33617910..33620269,2	MCF-7	breast:
44	chr17:56736454..56738602-chr6:33589465..33592275,2	MCF-7	breast:
45	chr6:33382580..33384156-chr6:33587956..33590051,2	K562	blood:
46	chr6:33558226..33560678-chr6:33600632..33602616,2	K562	blood:
47	chr6:33603324..33605214-chr6:33605377..33607191,2	MCF-7	breast:
48	chr6:33238461..33240272-chr6:33600741..33603344,2	MCF-7	breast:
49	chr6:33551460..33554975-chr6:33588078..33592105,4	K562	blood:
50	chr6:33602056..33605977-chr6:33617879..33621457,3	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BAK1-2	chr6:33601141-33601413	ENSG00000246981
2	lnc-BAK1-2	chr6:33599094-33600790	ENSG00000246981

No data

Variant related genes	Relation type
ITPR3	TF binding region
ITPR3	CpG island
ENSG00000156642	chromatin interactions
ENSG00000196584	chromatin interactions
ENSG00000187266	chromatin interactions
ENSG00000204188	chromatin interactions
ENSG00000116521	chromatin interactions
ENSG00000143033	chromatin interactions
ENSG00000124523	chromatin interactions
ENSG00000161896	chromatin interactions
ENSG00000170345	chromatin interactions
ENSG00000231500	chromatin interactions
ENSG00000170421	chromatin interactions
ENSG00000120071	chromatin interactions
ENSG00000165891	chromatin interactions
ENSG00000112511	chromatin interactions
ENSG00000137309	chromatin interactions
ENSG00000067900	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000030110	chromatin interactions
ENSG00000096433	chromatin interactions
ENSG00000214401	chromatin interactions
ENSG00000074319	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000137288	chromatin interactions
ENSG00000197251	chromatin interactions
ENSG00000223501	chromatin interactions
FGF13	miRNA target sites
C11orf57	miRNA target sites

Extended variants
information (count: 933 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:933 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9469529	chr6:33587443-33587444	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs529550492	chr6:33587467-33587468	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs34425654	chr6:33587513-33587514	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs183239731	chr6:33587525-33587526	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs78775302	chr6:33587541-33587542	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs184926336	chr6:33587583-33587584	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs562661088	chr6:33587593-33587594	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs561625197	chr6:33587663-33587664	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs576602958	chr6:33587674-33587675	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs551473626	chr6:33587699-33587700	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs566833190	chr6:33587723-33587724	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs2395451	chr6:33587726-33587727	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs549102178	chr6:33587750-33587751	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs568392014	chr6:33587823-33587824	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs2894349	chr6:33587824-33587825	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs557253021	chr6:33587857-33587858	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs569090378	chr6:33587861-33587862	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs539616561	chr6:33587875-33587876	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs534520837	chr6:33587886-33587887	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs3748081	chr6:33587911-33587912	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs542310044	chr6:33587912-33587913	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs544758038	chr6:33587915-33587916	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs547878638	chr6:33587926-33587927	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs572835591	chr6:33587929-33587930	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs3748080	chr6:33587954-33587955	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs555062041	chr6:33587960-33587961	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs547696574	chr6:33588014-33588015	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs375326255	chr6:33588090-33588091	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs544510517	chr6:33588094-33588095	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs189883453	chr6:33588128-33588129	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs3748079	chr6:33588147-33588148	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs545183387	chr6:33588223-33588224	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs560679665	chr6:33588241-33588242	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs112807326	chr6:33588347-33588348	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
35	rs548232654	chr6:33588350-33588351	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
36	rs59929559	chr6:33588351-33588352	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs531705000	chr6:33588370-33588371	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
38	rs549406015	chr6:33588371-33588372	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
39	rs35692021	chr6:33588372-33588373	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
40	rs397970723	chr6:33588386-33588387	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
41	rs550917295	chr6:33588456-33588457	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
42	rs569149833	chr6:33588488-33588489	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
43	rs539678667	chr6:33588535-33588536	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
44	rs551276173	chr6:33588568-33588569	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
45	rs9368768	chr6:33588610-33588611	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs533651011	chr6:33588660-33588661	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
47	rs555397715	chr6:33588701-33588702	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
48	rs13195024	chr6:33588703-33588704	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs537418338	chr6:33588725-33588726	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
50	rs556475023	chr6:33588787-33588788	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:110)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Autoimmune disease	19135723	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Myelofibrosis	22110671	CNVD
Incontinentia Pigmenti	22033527	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Encephalopathy	20692195	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	23813976	CNVD
Liver carcinoma	19366792	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:2024 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33578800-33588000	Weak transcription	Gastric	stomach
2	chr6:33579400-33588000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:33580000-33587600	Weak transcription	Brain Substantia Nigra	brain
4	chr6:33581600-33588000	Weak transcription	Brain Anterior Caudate	brain
5	chr6:33582200-33587800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:33583800-33587800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr6:33584000-33587800	Enhancers	Fetal Intestine Small	intestine
8	chr6:33585200-33587600	Weak transcription	Osteobl	bone
9	chr6:33586000-33587600	Enhancers	HSMM	muscle
10	chr6:33586000-33588000	Enhancers	Spleen	Spleen
11	chr6:33586400-33587800	Enhancers	Primary T cells fromperipheralblood	blood
12	chr6:33586600-33587600	Enhancers	Fetal Lung	lung
13	chr6:33586600-33587600	Enhancers	HMEC	breast
14	chr6:33586600-33587800	Enhancers	Primary T cells from cord blood	blood
15	chr6:33586600-33587800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:33586600-33587800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr6:33586600-33587800	Enhancers	Fetal Intestine Large	intestine
18	chr6:33586600-33587800	Enhancers	Placenta	Placenta
19	chr6:33586600-33587800	Enhancers	Fetal Thymus	thymus
20	chr6:33586600-33587800	Enhancers	Right Ventricle	heart
21	chr6:33586600-33587800	Enhancers	NHEK	skin
22	chr6:33586600-33588200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr6:33586800-33587600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
24	chr6:33586800-33587600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
25	chr6:33586800-33587600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
26	chr6:33586800-33587600	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr6:33586800-33587600	Enhancers	Duodenum Mucosa	Duodenum
28	chr6:33586800-33587800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr6:33586800-33587800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr6:33586800-33587800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr6:33586800-33587800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr6:33586800-33587800	Enhancers	Colonic Mucosa	Colon
33	chr6:33586800-33587800	Enhancers	Fetal Muscle Trunk	muscle
34	chr6:33586800-33587800	Enhancers	Lung	lung
35	chr6:33586800-33587800	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr6:33586800-33587800	Enhancers	Thymus	Thymus
37	chr6:33586800-33588000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr6:33586800-33588000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr6:33586800-33588000	Enhancers	Stomach Mucosa	stomach
40	chr6:33586800-33588600	Flanking Bivalent TSS/Enh	HepG2	liver
41	chr6:33587000-33587600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
42	chr6:33587000-33587600	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr6:33587000-33587600	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr6:33587000-33587600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr6:33587000-33587600	Enhancers	Adipose Nuclei	Adipose
46	chr6:33587000-33587800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
47	chr6:33587000-33587800	Enhancers	H9 Cell Line	embryonic stem cell
48	chr6:33587000-33587800	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr6:33587000-33587800	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr6:33587000-33587800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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