Variant report

Variant	esv3351586
Chromosome Location	chr6:24494123-24497171
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:715)
CpG islands
(count:732)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:715 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:24493729-24494132	K562	blood:	n/a	chr6:24493902-24493918 chr6:24493901-24493917
2	ARID3A	chr6:24495393-24495660	HepG2	liver:	n/a	n/a
3	ATF2	chr6:24494940-24495302	GM12878	blood:	n/a	n/a
4	BACH1	chr6:24494725-24495996	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr6:24493772-24494244	K562	blood:	n/a	n/a
6	BCLAF1	chr6:24494844-24496229	GM12878	blood:	n/a	chr6:24495035-24495044 chr6:24495925-24495934
7	BHLHE40	chr6:24494635-24496143	K562	blood:	n/a	n/a
8	BHLHE40	chr6:24494774-24496091	HepG2	liver:	n/a	n/a
9	BHLHE40	chr6:24494988-24496151	GM12878	blood:	n/a	n/a
10	BRCA1	chr6:24494941-24495205	Hela-S3	cervix:	n/a	n/a
11	BRCA1	chr6:24495667-24495921	HepG2	liver:	n/a	n/a
12	BRCA1	chr6:24494979-24495107	HepG2	liver:	n/a	n/a
13	CBX3	chr6:24494815-24496262	K562	blood:	n/a	n/a
14	CCNT2	chr6:24494910-24495639	K562	blood:	n/a	n/a
15	CEBPB	chr6:24495054-24495177	K562	blood:	n/a	n/a
16	CEBPB	chr6:24494920-24495316	Hela-S3	cervix:	n/a	n/a
17	CEBPD	chr6:24494932-24495197	HepG2	liver:	n/a	n/a
18	CEBPD	chr6:24495626-24496022	HepG2	liver:	n/a	n/a
19	CHD1	chr6:24495200-24495633	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD2	chr6:24494963-24495826	Hela-S3	cervix:	n/a	n/a
21	CHD2	chr6:24494720-24495241	GM12878	blood:	n/a	n/a
22	CHD2	chr6:24494947-24495246	HepG2	liver:	n/a	n/a
23	CHD2	chr6:24494880-24495927	H1-hESC	embryonic stem cell:	n/a	chr6:24495896-24495906
24	CHD2	chr6:24495136-24495337	K562	blood:	n/a	n/a
25	CHD2	chr6:24495541-24495822	HepG2	liver:	n/a	n/a
26	CREB1	chr6:24494495-24496123	HepG2	liver:	n/a	n/a
27	CREB1	chr6:24494873-24495299	A549	lung:	n/a	n/a
28	CREB1	chr6:24494874-24495747	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTBP2	chr6:24494773-24496059	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr6:24495500-24495650	GM12872	blood:	n/a	n/a
31	CTCF	chr6:24494960-24495181	NHEK	skin:	n/a	n/a
32	CTCF	chr6:24494982-24495146	Medullo	brain:	n/a	n/a
33	CTCF	chr6:24494880-24495170	HRE	kidney:	n/a	n/a
34	CTCF	chr6:24495440-24495590	GM12872	blood:	n/a	n/a
35	CTCF	chr6:24494940-24495090	GM12872	blood:	n/a	n/a
36	CTCF	chr6:24494958-24495188	MCF-7	breast:	n/a	n/a
37	CTCF	chr6:24495420-24495570	A549	lung:	n/a	n/a
38	CTCF	chr6:24495000-24495150	GM12874	blood:	n/a	n/a
39	CTCF	chr6:24495300-24495450	GM12875	blood:	n/a	n/a
40	CTCF	chr6:24495340-24495490	K562	blood:	n/a	n/a
41	CTCF	chr6:24495740-24495890	AG09319	gingival:	n/a	n/a
42	CTCF	chr6:24495020-24495170	GM12864	blood:	n/a	n/a
43	CTCF	chr6:24494980-24495130	GM12875	blood:	n/a	n/a
44	CTCF	chr6:24495160-24495310	HFF	foreskin:	n/a	n/a
45	CTCF	chr6:24495040-24495190	SAEC	small airway:	n/a	n/a
46	CTCF	chr6:24494940-24495090	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr6:24495500-24495650	AoAF	blood vessel:	n/a	n/a
48	CTCF	chr6:24495000-24495150	AG09319	gingival:	n/a	n/a
49	CTCF	chr6:24495261-24495746	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr6:24494910-24495199	GM19240	blood:	n/a	n/a

(count:732 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:24495614-24495664	Hepatocyte	liver:	n/a
2	chr6:24494605-24494655	HCF	heart:	n/a
3	chr6:24494717-24494767	SK-N-MC	brain:	n/a
4	chr6:24495072-24495122	AG04449	skin:	fetal
5	chr6:24494665-24494715	BJ	skin:	n/a
6	chr6:24494665-24494715	PANC-1	pancreas:	n/a
7	chr6:24494462-24494512	HRPEpiC	eye:	n/a
8	chr6:24494605-24494655	AG04449	skin:	fetal
9	chr6:24495061-24495111	GM12891	blood:	n/a
10	chr6:24494605-24494655	NB4	blood:	n/a
11	chr6:24495614-24495664	GM12891	blood:	n/a
12	chr6:24494605-24494655	GM12892	blood:	n/a
13	chr6:24495846-24495896	NB4	blood:	n/a
14	chr6:24495989-24496039	HNPCEpiC	eye:	n/a
15	chr6:24494717-24494767	ovcar-3	ovarian:	n/a
16	chr6:24495614-24495664	H1-hESC	embryonic stem cell:	embryo
17	chr6:24494793-24494843	AG09319	gingival:	n/a
18	chr6:24495059-24495109	SK-N-MC	brain:	n/a
19	chr6:24494605-24494655	HRCEpiC	kidney:	n/a
20	chr6:24495059-24495109	BJ	skin:	n/a
21	chr6:24494665-24494715	NT2-D1	testis:	n/a
22	chr6:24494462-24494512	GM12878	blood:	n/a
23	chr6:24494717-24494767	SKMC	muscle:	n/a
24	chr6:24495989-24496039	ovcar-3	ovarian:	n/a
25	chr6:24495264-24495314	AG10803	skin:	n/a
26	chr6:24495846-24495896	SKMC	muscle:	n/a
27	chr6:24495059-24495109	HNPCEpiC	eye:	n/a
28	chr6:24495614-24495664	AG04450	lung:	fetal
29	chr6:24495061-24495111	PANC-1	pancreas:	n/a
30	chr6:24495614-24495664	HCT-116	colon:	n/a
31	chr6:24494665-24494715	HRE	kidney:	n/a
32	chr6:24494793-24494843	AG10803	skin:	n/a
33	chr6:24494793-24494843	HEK293	kidney:	embryo
34	chr6:24494665-24494715	CMK	blood:	n/a
35	chr6:24494605-24494655	HIPEpiC	eye:	n/a
36	chr6:24494665-24494715	NHBE	bronchial:	n/a
37	chr6:24495614-24495664	MCF10A-Er-Src	breast:	n/a
38	chr6:24495614-24495664	GM12892	blood:	n/a
39	chr6:24494665-24494715	A549	lung:	n/a
40	chr6:24495061-24495111	HRCEpiC	kidney:	n/a
41	chr6:24495072-24495122	ProgFib	skin:	n/a
42	chr6:24495264-24495314	HCF	heart:	n/a
43	chr6:24494462-24494512	HAEpiC	amniotic membrane:	n/a
44	chr6:24494605-24494655	HMEC	breast:	n/a
45	chr6:24494665-24494715	AG04449	skin:	fetal
46	chr6:24495059-24495109	HCF	heart:	n/a
47	chr6:24494462-24494512	AoSMC	blood vessel:	n/a
48	chr6:24494462-24494512	LNCaP	prostate:	n/a
49	chr6:24494793-24494843	LNCaP	prostate:	n/a
50	chr6:24495989-24496039	Jurkat	blood:	n/a

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:24494650..24496587-chr6:24665440..24668079,2	MCF-7	breast:
2	chr6:24494955..24497307-chr6:24719219..24721474,2	MCF-7	breast:
3	chr6:24402909..24405943-chr6:24492830..24496087,3	K562	blood:
4	chr6:24494081..24496615-chr6:24665704..24668263,2	K562	blood:
5	chr6:24493803..24496211-chr6:24773975..24776646,3	K562	blood:
6	chr6:24495596..24498223-chr6:24565020..24567302,2	MCF-7	breast:
7	chr6:24493014..24496474-chr6:24718971..24722650,4	K562	blood:
8	chr6:24473016..24474847-chr6:24495882..24498664,2	K562	blood:
9	chr6:24496929..24500234-chr6:24504252..24507783,4	K562	blood:
10	chr6:24431084..24431585-chr6:24495592..24496144,2	MCF-7	breast:
11	chr6:24492199..24495699-chr6:24718792..24721987,5	K562	blood:
12	chr6:24495638..24500234-chr6:24504925..24509115,5	K562	blood:
13	chr6:24488265..24492557-chr6:24493494..24498787,7	K562	blood:
14	chr6:24401784..24404907-chr6:24494976..24497958,4	MCF-7	breast:
15	chr6:24489101..24491684-chr6:24493403..24495493,2	MCF-7	breast:
16	chr6:24487096..24491354-chr6:24491448..24495730,8	K562	blood:
17	chr6:24483355..24485478-chr6:24495554..24497195,2	MCF-7	breast:
18	chr6:24487824..24490266-chr6:24492770..24497111,3	MCF-7	breast:
19	chr6:24495510..24496378-chr6:24695478..24696466,2	MCF-7	breast:
20	chr6:24491848..24494534-chr6:24497211..24499675,3	MCF-7	breast:

No data

Variant related genes	Relation type
ALDH5A1	TF binding region
GPLD1	TF binding region
ALDH5A1	CpG island
GPLD1	CpG island
ENSG00000112308	chromatin interactions
ENSG00000112304	chromatin interactions
ENSG00000112293	chromatin interactions
ENSG00000124532	chromatin interactions
ENSG00000111802	chromatin interactions
ENSG00000112312	chromatin interactions

Extended variants
information (count: 139 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190061608	chr6:24494137-24494138	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs114423744	chr6:24494153-24494154	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs114327789	chr6:24494193-24494194	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs147920989	chr6:24494200-24494201	Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs571593769	chr6:24494254-24494255	Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs112231237	chr6:24494280-24494281	Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs78639811	chr6:24494300-24494301	Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs550824220	chr6:24494301-24494302	Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs182163165	chr6:24494318-24494319	Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs564347714	chr6:24494369-24494370	Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs528393194	chr6:24494392-24494393	Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs16889393	chr6:24494463-24494464	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs536858321	chr6:24494476-24494477	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs138240113	chr6:24494485-24494486	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs573585440	chr6:24494511-24494512	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs11759284	chr6:24494517-24494518	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs187258345	chr6:24494572-24494573	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs577591948	chr6:24494583-24494584	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs149133860	chr6:24494603-24494604	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs143252623	chr6:24494605-24494606	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs573376744	chr6:24494617-24494618	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs35809962	chr6:24494642-24494643	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs542418472	chr6:24494643-24494644	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs559082712	chr6:24494648-24494649	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs528281872	chr6:24494759-24494760	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs113410249	chr6:24494767-24494768	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs551435191	chr6:24494783-24494784	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs191888449	chr6:24494824-24494825	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs200736937	chr6:24494837-24494838	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs7772630	chr6:24494852-24494853	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs4646828	chr6:24494924-24494925	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs567764406	chr6:24494935-24494936	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs377190112	chr6:24494974-24494975	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs2744575	chr6:24494975-24494976	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs547105551	chr6:24494976-24494977	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs567115381	chr6:24494999-24495000	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs539198668	chr6:24495002-24495003	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs559019471	chr6:24495003-24495004	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs4646829	chr6:24495004-24495005	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs7752835	chr6:24495019-24495020	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs115424863	chr6:24495027-24495028	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs573412922	chr6:24495031-24495032	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs542355144	chr6:24495035-24495036	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs575782575	chr6:24495040-24495041	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs4646830	chr6:24495050-24495051	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs4646831	chr6:24495051-24495052	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs368618455	chr6:24495066-24495067	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs565053731	chr6:24495078-24495079	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs530785484	chr6:24495111-24495112	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs544626175	chr6:24495116-24495117	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	16790693	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cancer	21183584	CNVD
Myelofibrosis	22110671	CNVD
Williams-beuren syndrome	16971481	CNVD
Uveal melanoma	20484589	CNVD
small cell lung cancer	20016488	CNVD
XY gonadal dysgenesis	20685758	CNVD

Chromatin state (count:560 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24429000-24494200	Weak transcription	Primary B cells from cord blood	blood
2	chr6:24470600-24494600	Weak transcription	Left Ventricle	heart
3	chr6:24473000-24494600	Weak transcription	Ovary	ovary
4	chr6:24489800-24494600	Weak transcription	Right Atrium	heart
5	chr6:24490400-24494400	Weak transcription	Right Ventricle	heart
6	chr6:24490400-24494600	Weak transcription	Fetal Intestine Small	intestine
7	chr6:24490600-24494400	Weak transcription	Colon Smooth Muscle	Colon
8	chr6:24490600-24494400	Weak transcription	Hela-S3	cervix
9	chr6:24490800-24494200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr6:24492000-24494400	Weak transcription	Fetal Muscle Leg	muscle
11	chr6:24492000-24494400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr6:24492000-24494600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr6:24492800-24494400	Enhancers	Fetal Thymus	thymus
14	chr6:24492800-24494400	Enhancers	Thymus	Thymus
15	chr6:24493200-24494400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr6:24493200-24494400	Weak transcription	Spleen	Spleen
17	chr6:24493200-24495000	Flanking Active TSS	K562	blood
18	chr6:24493400-24494200	Enhancers	Adipose Nuclei	Adipose
19	chr6:24493600-24494200	Enhancers	HepG2	liver
20	chr6:24493600-24494400	Enhancers	Primary T cells fromperipheralblood	blood
21	chr6:24493600-24494400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr6:24493800-24494200	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr6:24493800-24494200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr6:24493800-24494200	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr6:24493800-24494200	Active TSS	Brain Anterior Caudate	brain
26	chr6:24493800-24494200	Enhancers	GM12878-XiMat	blood
27	chr6:24493800-24494400	Enhancers	Primary hematopoietic stem cells	blood
28	chr6:24493800-24494400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr6:24493800-24494400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr6:24493800-24494400	Enhancers	Liver	Liver
31	chr6:24493800-24494400	Enhancers	Duodenum Mucosa	Duodenum
32	chr6:24493800-24494800	Flanking Active TSS	Dnd41	blood
33	chr6:24494000-24494200	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr6:24494000-24494200	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr6:24494000-24494200	Enhancers	Brain Hippocampus Middle	brain
36	chr6:24494000-24494400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr6:24494000-24494400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr6:24494000-24494400	Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr6:24494000-24494400	Enhancers	Stomach Smooth Muscle	stomach
40	chr6:24494000-24495000	Flanking Active TSS	Primary T cells from cord blood	blood
41	chr6:24494000-24495000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr6:24494000-24496000	Active TSS	Brain Angular Gyrus	brain
43	chr6:24494000-24496000	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr6:24494200-24494400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
45	chr6:24494200-24494400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:24494200-24494400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr6:24494200-24494400	Enhancers	Primary B cells from cord blood	blood
48	chr6:24494200-24494400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr6:24494200-24494400	Enhancers	Brain Cingulate Gyrus	brain
50	chr6:24494200-24494400	Enhancers	Brain Germinal Matrix	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links