Variant report

Variant	esv3335292
Chromosome Location	chr6:33377349-33379972
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:759)
CpG islands
(count:1711)
Chromatin interactive
region (count:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:759 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:33377354-33378298	K562	blood:	n/a	n/a
2	ARID3A	chr6:33377459-33378281	HepG2	liver:	n/a	n/a
3	ATF1	chr6:33377456-33378622	K562	blood:	n/a	n/a
4	ATF2	chr6:33377787-33378421	H1-hESC	embryonic stem cell:	n/a	chr6:33378125-33378136
5	ATF2	chr6:33377956-33378389	GM12878	blood:	n/a	chr6:33378125-33378136
6	ATF2	chr6:33377783-33378358	GM12878	blood:	n/a	chr6:33378125-33378136
7	ATF2	chr6:33377756-33378341	H1-hESC	embryonic stem cell:	n/a	chr6:33378125-33378136
8	ATF3	chr6:33377976-33378351	K562	blood:	n/a	chr6:33378125-33378138 chr6:33378127-33378137 chr6:33378126-33378146 chr6:33378123-33378138 chr6:33378125-33378136
9	ATF3	chr6:33377591-33377875	A549	lung:	n/a	n/a
10	BACH1	chr6:33377722-33378484	H1-hESC	embryonic stem cell:	n/a	n/a
11	BCL3	chr6:33377904-33378649	GM12878	blood:	n/a	n/a
12	BCL3	chr6:33377432-33378520	A549	lung:	n/a	chr6:33377704-33377712
13	BCL3	chr6:33377877-33378447	GM12878	blood:	n/a	n/a
14	BCL3	chr6:33377546-33378667	A549	lung:	n/a	chr6:33377704-33377712
15	BCLAF1	chr6:33377697-33378299	GM12878	blood:	n/a	chr6:33377704-33377712
16	BHLHE40	chr6:33379179-33379309	K562	blood:	n/a	n/a
17	BHLHE40	chr6:33377710-33378706	K562	blood:	n/a	n/a
18	BHLHE40	chr6:33377882-33378715	HepG2	liver:	n/a	n/a
19	BHLHE40	chr6:33377721-33379028	GM12878	blood:	n/a	n/a
20	BRCA1	chr6:33377785-33377960	H1-hESC	embryonic stem cell:	n/a	n/a
21	BRCA1	chr6:33377880-33378164	HepG2	liver:	n/a	n/a
22	BRCA1	chr6:33377677-33378306	Hela-S3	cervix:	n/a	n/a
23	BRCA1	chr6:33377952-33378149	GM12878	blood:	n/a	n/a
24	CBX3	chr6:33377963-33378304	K562	blood:	n/a	n/a
25	CBX3	chr6:33377136-33378708	K562	blood:	n/a	n/a
26	CCNT2	chr6:33377730-33379160	K562	blood:	n/a	chr6:33377839-33377848 chr6:33378424-33378433 chr6:33378456-33378465 chr6:33377939-33377948
27	CEBPB	chr6:33377980-33378304	IMR90	lung:	n/a	n/a
28	CEBPB	chr6:33377959-33378259	K562	blood:	n/a	n/a
29	CEBPB	chr6:33377968-33378269	HepG2	liver:	n/a	n/a
30	CEBPB	chr6:33377734-33378261	K562	blood:	n/a	n/a
31	CEBPB	chr6:33377843-33378308	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr6:33377989-33378341	H1-hESC	embryonic stem cell:	n/a	n/a
33	CEBPD	chr6:33377628-33378754	K562	blood:	n/a	n/a
34	CEBPD	chr6:33377676-33379035	HepG2	liver:	n/a	n/a
35	CEBPD	chr6:33377986-33378315	HepG2	liver:	n/a	n/a
36	CHD1	chr6:33377460-33378125	GM12878	blood:	n/a	n/a
37	CHD1	chr6:33378504-33378686	GM12878	blood:	n/a	n/a
38	CHD1	chr6:33378936-33378938	GM12878	blood:	n/a	n/a
39	CHD2	chr6:33378962-33379018	HepG2	liver:	n/a	n/a
40	CHD2	chr6:33377700-33378591	HepG2	liver:	n/a	chr6:33378144-33378154
41	CHD2	chr6:33377398-33377598	GM12878	blood:	n/a	n/a
42	CHD2	chr6:33377751-33379244	K562	blood:	n/a	chr6:33378144-33378154
43	CHD2	chr6:33377769-33379082	Hela-S3	cervix:	n/a	chr6:33378144-33378154
44	CHD2	chr6:33377816-33379088	GM12878	blood:	n/a	chr6:33378144-33378154
45	CHD2	chr6:33377866-33378624	H1-hESC	embryonic stem cell:	n/a	chr6:33378144-33378154
46	CREB1	chr6:33377666-33378584	H1-hESC	embryonic stem cell:	n/a	chr6:33378124-33378137
47	CREB1	chr6:33377949-33378386	A549	lung:	n/a	chr6:33378124-33378137
48	CREB1	chr6:33377751-33378658	A549	lung:	n/a	chr6:33378124-33378137
49	CREB1	chr6:33377241-33378643	K562	blood:	n/a	chr6:33378124-33378137
50	CREB1	chr6:33377217-33379234	HepG2	liver:	n/a	chr6:33378124-33378137

(count:1711 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:33377795-33377845	MCF-7	breast:	n/a
2	chr6:33377958-33378008	PFSK-1	brain:	n/a
3	chr6:33378912-33378962	RPTEC	kidney:	n/a
4	chr6:33377795-33377845	MCF-7	breast:	n/a
5	chr6:33377958-33378008	PFSK-1	brain:	n/a
6	chr6:33378912-33378962	RPTEC	kidney:	n/a
7	chr6:33378516-33378566	HCM	heart:	n/a
8	chr6:33377958-33378008	NB4	blood:	n/a
9	chr6:33377958-33378008	AG04449	skin:	fetal
10	chr6:33378936-33378986	IMR90	lung:	fetal
11	chr6:33378912-33378962	Caco-2	colon:	n/a
12	chr6:33377990-33378040	GM19239	blood:	n/a
13	chr6:33378912-33378962	SK-N-MC	brain:	n/a
14	chr6:33378010-33378060	HRPEpiC	eye:	n/a
15	chr6:33378516-33378566	HRCEpiC	kidney:	n/a
16	chr6:33378340-33378390	T-47D	breast:	n/a
17	chr6:33379265-33379315	SK-N-SH_RA	brain:	n/a
18	chr6:33378951-33379001	NHDF-neo	bronchial:	n/a
19	chr6:33377795-33377845	ovcar-3	ovarian:	n/a
20	chr6:33377317-33377367	AG10803	skin:	n/a
21	chr6:33377795-33377845	SAEC	small airway:	n/a
22	chr6:33378345-33378395	GM12892	blood:	n/a
23	chr6:33377958-33378008	Jurkat	blood:	n/a
24	chr6:33377848-33377898	HIPEpiC	eye:	n/a
25	chr6:33377471-33377521	K562	blood:	n/a
26	chr6:33378951-33379001	SAEC	small airway:	n/a
27	chr6:33378951-33379001	HCF	heart:	n/a
28	chr6:33378340-33378390	PrEC	prostate:	n/a
29	chr6:33378019-33378069	NHBE	bronchial:	n/a
30	chr6:33379287-33379337	BE2_C	brain:	n/a
31	chr6:33379267-33379317	GM12878	blood:	n/a
32	chr6:33377990-33378040	HepG2	liver:	n/a
33	chr6:33377748-33377798	GM12878	blood:	n/a
34	chr6:33379050-33379100	HPAEpiC	pulmonary alveolar:	n/a
35	chr6:33379287-33379337	AoSMC	blood vessel:	n/a
36	chr6:33378516-33378566	BE2_C	brain:	n/a
37	chr6:33378010-33378060	BJ	skin:	n/a
38	chr6:33378130-33378180	Caco-2	colon:	n/a
39	chr6:33377933-33377983	HPAEpiC	pulmonary alveolar:	n/a
40	chr6:33379287-33379337	MCF10A-Er-Src	breast:	n/a
41	chr6:33378345-33378395	LNCaP	prostate:	n/a
42	chr6:33378516-33378566	HIPEpiC	eye:	n/a
43	chr6:33378305-33378355	A549	lung:	n/a
44	chr6:33378345-33378395	HMEC	breast:	n/a
45	chr6:33379330-33379380	GM12891	blood:	n/a
46	chr6:33377933-33377983	PFSK-1	brain:	n/a
47	chr6:33378019-33378069	BE2_C	brain:	n/a
48	chr6:33379287-33379337	SK-N-SH	brain:	n/a
49	chr6:33379050-33379100	AG09309	skin:	n/a
50	chr6:33377748-33377798	Hela-S3	cervix:	n/a

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:33261265..33262842-chr6:33377823..33379768,2	K562	blood:
2	chr6:33377496..33379251-chr6:33661661..33664420,2	MCF-7	breast:
3	chr6:33237079..33247876-chr6:33369927..33381738,26	K562	blood:
4	chr12:52444856..52445551-chr6:33378224..33378869,2	Hela-S3	cervix:
5	chr6:33261342..33263204-chr6:33376924..33379323,2	K562	blood:
6	chr6:33237157..33241221-chr6:33375922..33380109,6	MCF-7	breast:
7	chr6:32938764..32940269-chr6:33377609..33379519,2	MCF-7	breast:
8	chr6:33357351..33361150-chr6:33373102..33380127,12	MCF-7	breast:
9	chr6:33244680..33251060-chr6:33375427..33382644,12	MCF-7	breast:
10	chr6:27114748..27115280-chr6:33378038..33378746,2	Hela-S3	cervix:
11	chr6:33279489..33293095-chr6:33375317..33398824,56	K562	blood:
12	chr6:33255490..33258967-chr6:33375507..33378634,5	MCF-7	breast:
13	chr6:33167104..33169096-chr6:33376083..33378504,2	K562	blood:
14	chr6:33358222..33360525-chr6:33377821..33380717,3	MCF-7	breast:
15	chr1:28974856..28975665-chr6:33378255..33378960,2	Hela-S3	cervix:
16	chr6:33377039..33379614-chr6:33421781..33424452,2	K562	blood:
17	chr6:33242863..33248981-chr6:33374531..33379553,10	MCF-7	breast:
18	chr17:75283611..75284123-chr6:33378111..33378909,2	Hela-S3	cervix:
19	chr6:33377727..33378412-chr7:64838619..64839491,2	Hela-S3	cervix:
20	chr6:30710804..30712449-chr6:33376908..33379450,2	MCF-7	breast:
21	chr6:33280452..33282497-chr6:33377188..33378997,2	MCF-7	breast:
22	chr6:33356271..33363521-chr6:33371085..33380351,32	K562	blood:
23	chr6:33366608..33368247-chr6:33376462..33378479,2	MCF-7	breast:
24	chr6:33263073..33268205-chr6:33376944..33380191,7	MCF-7	breast:
25	chr16:25268976..25269623-chr6:33377932..33378898,2	Hela-S3	cervix:
26	chr10:134145639..134146221-chr6:33378370..33378986,2	Hela-S3	cervix:
27	chr6:33255152..33256710-chr6:33377924..33379590,2	K562	blood:
28	chr6:33256889..33260224-chr6:33374160..33378303,4	K562	blood:
29	chr6:33215707..33217514-chr6:33377026..33379165,2	K562	blood:
30	chr6:33280795..33292485-chr6:33374786..33387605,31	K562	blood:
31	chr12:121908083..121909947-chr6:33379733..33381341,2	MCF-7	breast:
32	chr6:33215708..33217469-chr6:33373843..33377513,3	MCF-7	breast:
33	chr6:33166881..33169550-chr6:33376292..33379063,3	K562	blood:
34	chr6:33237328..33248026-chr6:33370896..33379989,29	K562	blood:
35	chr6:33256522..33259302-chr6:33375799..33380992,5	MCF-7	breast:
36	chr6:33359285..33360429-chr6:33377538..33378244,3	K562	blood:

No data

Variant related genes	Relation type
PHF1	TF binding region
PHF1	CpG island
ENSG00000123358	chromatin interactions
ENSG00000270103	chromatin interactions
ENSG00000223501	chromatin interactions
ENSG00000225644	chromatin interactions
ENSG00000204231	chromatin interactions
ENSG00000213588	chromatin interactions
ENSG00000235863	chromatin interactions
ENSG00000231500	chromatin interactions
ENSG00000237441	chromatin interactions
ENSG00000232940	chromatin interactions
ENSG00000089094	chromatin interactions
ENSG00000204220	chromatin interactions
ENSG00000112473	chromatin interactions
ENSG00000237649	chromatin interactions
ENSG00000146757	chromatin interactions
ENSG00000137331	chromatin interactions
ENSG00000236104	chromatin interactions
ENSG00000204256	chromatin interactions
ENSG00000269490	chromatin interactions
ENSG00000184825	chromatin interactions
ENSG00000202441	chromatin interactions
ENSG00000184640	chromatin interactions
ENSG00000227057	chromatin interactions
ENSG00000204209	chromatin interactions
ENSG00000155592	chromatin interactions
ENSG00000148814	chromatin interactions
ENSG00000231925	chromatin interactions

Extended variants
information (count: 83 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561938069	chr6:33377365-33377366	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
2	rs202064015	chr6:33377371-33377372	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
3	rs373575912	chr6:33377374-33377375	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
4	rs201684242	chr6:33377376-33377377	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
5	rs201017824	chr6:33377380-33377381	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
6	rs377433705	chr6:33377384-33377385	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
7	rs528176353	chr6:33377413-33377414	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
8	rs4470839	chr6:33377424-33377425	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
9	rs370122217	chr6:33377437-33377438	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
10	rs375556383	chr6:33377439-33377440	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
11	rs437874	chr6:33377484-33377485	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
12	rs564401607	chr6:33377486-33377487	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
13	rs528380611	chr6:33377522-33377523	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
14	rs58223929	chr6:33377528-33377529	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
15	rs546856171	chr6:33377530-33377531	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
16	rs568257489	chr6:33377531-33377532	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
17	rs372962845	chr6:33377536-33377537	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
18	rs535538280	chr6:33377542-33377543	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
19	rs192120974	chr6:33377571-33377572	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
20	rs184718345	chr6:33377591-33377592	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
21	rs190303475	chr6:33377634-33377635	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
22	rs142622704	chr6:33377644-33377645	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
23	rs573233225	chr6:33377671-33377672	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
24	rs540960899	chr6:33377685-33377686	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
25	rs193286560	chr6:33377694-33377695	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
26	rs146564319	chr6:33377721-33377722	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
27	rs185611277	chr6:33377739-33377740	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
28	rs562814276	chr6:33377750-33377751	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
29	rs73741833	chr6:33377784-33377785	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	21 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs545454270	chr6:33377789-33377790	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
31	rs554324129	chr6:33377796-33377797	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
32	rs560487735	chr6:33377831-33377832	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
33	rs189344915	chr6:33377885-33377886	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
34	rs141323325	chr6:33377911-33377912	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
35	rs144977635	chr6:33377974-33377975	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
36	rs561929268	chr6:33377983-33377984	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
37	rs376690709	chr6:33377990-33377991	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
38	rs529041898	chr6:33378058-33378059	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
39	rs112889929	chr6:33378083-33378084	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
40	rs180850031	chr6:33378099-33378100	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
41	rs568885830	chr6:33378158-33378159	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
42	rs542734689	chr6:33378236-33378237	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
43	rs539502052	chr6:33378237-33378238	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
44	rs551010707	chr6:33378322-33378323	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
45	rs199931674	chr6:33378346-33378347	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
46	rs568201930	chr6:33378347-33378348	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
47	rs185295374	chr6:33378392-33378393	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
48	rs566086431	chr6:33378496-33378497	Active TSS Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
49	rs534233188	chr6:33378880-33378881	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
50	rs555608864	chr6:33378958-33378959	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
Acute lymphoblastic leukemia	21339820	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
Renal cell carcinoma	18765545	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
Immune disease	17576883	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:525 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33360000-33377400	Weak transcription	Small Intestine	intestine
2	chr6:33360000-33377600	Weak transcription	Right Atrium	heart
3	chr6:33360400-33377600	Weak transcription	Esophagus	oesophagus
4	chr6:33360400-33377600	Weak transcription	Lung	lung
5	chr6:33361200-33377800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr6:33362200-33377600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr6:33372000-33377400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr6:33372600-33377600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:33372600-33377600	Weak transcription	Fetal Kidney	kidney
10	chr6:33372800-33377600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr6:33374000-33377400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr6:33374400-33377400	Weak transcription	Fetal Brain Female	brain
13	chr6:33374600-33377400	Weak transcription	Gastric	stomach
14	chr6:33374600-33377600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr6:33374800-33377400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:33374800-33377400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr6:33374800-33377400	Weak transcription	NHLF	lung
18	chr6:33375000-33377400	Weak transcription	Brain Germinal Matrix	brain
19	chr6:33375000-33377600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:33375000-33377600	Weak transcription	HSMM	muscle
21	chr6:33376200-33377400	Weak transcription	HMEC	breast
22	chr6:33376200-33377400	Weak transcription	Osteobl	bone
23	chr6:33376200-33377600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:33376200-33377600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr6:33376600-33380000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr6:33376800-33377400	Enhancers	Primary hematopoietic stem cells	blood
27	chr6:33376800-33377400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr6:33377000-33377400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:33377000-33377400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr6:33377000-33377400	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr6:33377000-33377400	Active TSS	Primary T cells from cord blood	blood
32	chr6:33377000-33377400	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr6:33377000-33377400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr6:33377000-33377400	Enhancers	Fetal Intestine Large	intestine
35	chr6:33377000-33377400	Enhancers	Fetal Intestine Small	intestine
36	chr6:33377000-33377400	Enhancers	A549	lung
37	chr6:33377000-33377400	Genic enhancers	Dnd41	blood
38	chr6:33377000-33377600	Enhancers	Primary B cells from peripheral blood	blood
39	chr6:33377000-33377600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr6:33377000-33377800	Flanking Active TSS	HepG2	liver
41	chr6:33377000-33378000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr6:33377000-33378000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr6:33377000-33378000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
44	chr6:33377000-33379600	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr6:33377200-33377400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr6:33377200-33377400	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr6:33377200-33377400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr6:33377200-33377400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr6:33377200-33377400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:33377200-33377400	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links