Variant report

Variant	esv3360811
Chromosome Location	chr11:75478729-75481277
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:663)
CpG islands
(count:550)
Chromatin interactive
region (count:7)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:663 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:75479414-75479759	K562	blood:	n/a	n/a
2	ARID3A	chr11:75478888-75479857	HepG2	liver:	n/a	n/a
3	BACH1	chr11:75480104-75480399	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCLAF1	chr11:75479025-75479667	GM12878	blood:	n/a	n/a
5	BHLHE40	chr11:75479329-75479669	HepG2	liver:	n/a	n/a
6	BHLHE40	chr11:75479016-75480008	HepG2	liver:	n/a	chr11:75479877-75479893 chr11:75479874-75479890
7	BHLHE40	chr11:75479280-75479697	HepG2	liver:	n/a	n/a
8	BHLHE40	chr11:75479298-75479916	A549	lung:	n/a	chr11:75479877-75479893 chr11:75479874-75479890
9	BHLHE40	chr11:75478812-75480165	K562	blood:	n/a	chr11:75479877-75479893 chr11:75479874-75479890
10	BHLHE40	chr11:75479007-75480553	GM12878	blood:	n/a	chr11:75479877-75479893 chr11:75479874-75479890
11	BRCA1	chr11:75479545-75479993	GM12878	blood:	n/a	n/a
12	BRCA1	chr11:75479342-75479917	Hela-S3	cervix:	n/a	n/a
13	BRCA1	chr11:75480296-75480344	HepG2	liver:	n/a	n/a
14	BRCA1	chr11:75479589-75479698	HepG2	liver:	n/a	n/a
15	CBX3	chr11:75479652-75479954	K562	blood:	n/a	n/a
16	CBX3	chr11:75478815-75479647	K562	blood:	n/a	n/a
17	CBX3	chr11:75478834-75480012	K562	blood:	n/a	n/a
18	CCNT2	chr11:75479163-75480089	K562	blood:	n/a	chr11:75479964-75479973
19	CEBPB	chr11:75479163-75480018	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr11:75479657-75479871	K562	blood:	n/a	n/a
21	CEBPB	chr11:75479659-75479895	HepG2	liver:	n/a	n/a
22	CEBPD	chr11:75479335-75479997	HepG2	liver:	n/a	n/a
23	CHD1	chr11:75479122-75479957	GM12878	blood:	n/a	n/a
24	CHD1	chr11:75479224-75479962	IMR90	lung:	n/a	n/a
25	CHD1	chr11:75479430-75479878	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD2	chr11:75479122-75479774	HepG2	liver:	n/a	n/a
27	CHD2	chr11:75479137-75480006	GM12878	blood:	n/a	n/a
28	CHD2	chr11:75480084-75480093	HepG2	liver:	n/a	n/a
29	CHD2	chr11:75479095-75479852	K562	blood:	n/a	n/a
30	CHD2	chr11:75479358-75479935	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD2	chr11:75479320-75480033	Hela-S3	cervix:	n/a	n/a
32	CREB1	chr11:75479143-75480055	GM12878	blood:	n/a	n/a
33	CREB1	chr11:75479253-75480012	K562	blood:	n/a	n/a
34	CREB1	chr11:75478884-75480131	HepG2	liver:	n/a	n/a
35	CREB1	chr11:75479390-75480075	A549	lung:	n/a	n/a
36	CTBP2	chr11:75479377-75480657	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr11:75479069-75479229	SK-N-SH_RA	brain:	n/a	chr11:75479075-75479083 chr11:75479164-75479174
38	CTCF	chr11:75479780-75479930	GM12870	blood:	n/a	n/a
39	CTCF	chr11:75479051-75479348	GM13977	blood:	n/a	chr11:75479075-75479083 chr11:75479164-75479174
40	CTCF	chr11:75479120-75479270	GM12865	blood:	n/a	chr11:75479164-75479174
41	CTCF	chr11:75479780-75479930	AG04449	skin:	n/a	n/a
42	CTCF	chr11:75478980-75479130	K562	blood:	n/a	chr11:75479075-75479083
43	CTCF	chr11:75479034-75479344	GM12892	blood:	n/a	chr11:75479075-75479083 chr11:75479164-75479174
44	CTCF	chr11:75479080-75479230	SAEC	small airway:	n/a	chr11:75479164-75479174
45	CTCF	chr11:75479800-75479950	AG04449	skin:	n/a	n/a
46	CTCF	chr11:75479395-75479545	HepG2	liver:	n/a	n/a
47	CTCF	chr11:75479802-75479915	NHEK	skin:	n/a	n/a
48	CTCF	chr11:75479760-75479910	GM12875	blood:	n/a	n/a
49	CTCF	chr11:75479820-75479970	GM12874	blood:	n/a	n/a
50	CTCF	chr11:75479041-75479471	K562	blood:	n/a	chr11:75479075-75479083 chr11:75479164-75479174

(count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:75479652-75479702	HCT-116	colon:	n/a
2	chr11:75479652-75479702	HCT-116	colon:	n/a
3	chr11:75480171-75480221	PANC-1	pancreas:	n/a
4	chr11:75479475-75479525	SK-N-MC	brain:	n/a
5	chr11:75479463-75479513	SK-N-SH	brain:	n/a
6	chr11:75479827-75479877	GM12892	blood:	n/a
7	chr11:75479825-75479875	MCF-7	breast:	n/a
8	chr11:75480171-75480221	AG09309	skin:	n/a
9	chr11:75480246-75480296	HNPCEpiC	eye:	n/a
10	chr11:75479475-75479525	HRCEpiC	kidney:	n/a
11	chr11:75480246-75480296	HIPEpiC	eye:	n/a
12	chr11:75479825-75479875	HepG2	liver:	n/a
13	chr11:75479408-75479458	NHDF-neo	bronchial:	n/a
14	chr11:75480246-75480296	HepG2	liver:	n/a
15	chr11:75479408-75479458	MCF-7	breast:	n/a
16	chr11:75479408-75479458	HPAEpiC	pulmonary alveolar:	n/a
17	chr11:75480246-75480296	AG10803	skin:	n/a
18	chr11:75479408-75479458	SK-N-SH	brain:	n/a
19	chr11:75479408-75479458	T-47D	breast:	n/a
20	chr11:75479825-75479875	CMK	blood:	n/a
21	chr11:75479475-75479525	HepG2	liver:	n/a
22	chr11:75479475-75479525	GM12891	blood:	n/a
23	chr11:75479825-75479875	H1-hESC	embryonic stem cell:	embryo
24	chr11:75479679-75479729	NB4	blood:	n/a
25	chr11:75479463-75479513	AG09309	skin:	n/a
26	chr11:75480171-75480221	HCT-116	colon:	n/a
27	chr11:75480246-75480296	NHBE	bronchial:	n/a
28	chr11:75479825-75479875	HCT-116	colon:	n/a
29	chr11:75479408-75479458	HMEC	breast:	n/a
30	chr11:75479475-75479525	PFSK-1	brain:	n/a
31	chr11:75480246-75480296	T-47D	breast:	n/a
32	chr11:75479825-75479875	RPTEC	kidney:	n/a
33	chr11:75479475-75479525	GM12878	blood:	n/a
34	chr11:75479679-75479729	GM12892	blood:	n/a
35	chr11:75479463-75479513	NH-A	brain:	n/a
36	chr11:75479475-75479525	HEEpiC	esophagus:	n/a
37	chr11:75479475-75479525	HRPEpiC	eye:	n/a
38	chr11:75480171-75480221	NHBE	bronchial:	n/a
39	chr11:75479475-75479525	AoSMC	blood vessel:	n/a
40	chr11:75479652-75479702	U87	brain:	n/a
41	chr11:75479827-75479877	PrEC	prostate:	n/a
42	chr11:75480171-75480221	AoSMC	blood vessel:	n/a
43	chr11:75479652-75479702	MCF-7	breast:	n/a
44	chr11:75479463-75479513	HEEpiC	esophagus:	n/a
45	chr11:75479475-75479525	SKMC	muscle:	n/a
46	chr11:75479652-75479702	HUVEC	blood vessel:	n/a
47	chr11:75480246-75480296	Caco-2	colon:	n/a
48	chr11:75479652-75479702	HCF	heart:	n/a
49	chr11:75479827-75479877	MCF-7	breast:	n/a
50	chr11:75479652-75479702	HMEC	breast:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:75479283..75479917-chr20:5100199..5101145,2	NB4	blood:
2	chr11:75416987..75417519-chr11:75478728..75479439,2	MCF-7	breast:
3	chr11:75479619..75482168-chr11:75525507..75528188,2	MCF-7	breast:
4	chr11:75477223..75481853-chr11:75500623..75503657,5	MCF-7	breast:
5	chr11:75479943..75481752-chr11:75484660..75487387,2	MCF-7	breast:
6	chr11:75479690..75481343-chr11:75485366..75487526,2	K562	blood:
7	chr11:75478711..75481665-chr11:75512333..75514833,3	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAP6-2	chr11:75479539-75479692	XLOC_009505
2	lnc-MOGAT2-3	chr11:75479844-75480157	NONHSAT023128
3	lnc-MAP6-2	chr11:75479539-75479692	ENSG00000247867

No data

Variant related genes	Relation type
ENSG00000247867	TF binding region
DGAT2	TF binding region
ENSG00000247867	CpG island
DGAT2	CpG island
ENSG00000255507	chromatin interactions
ENSG00000198382	chromatin interactions
ENSG00000254814	chromatin interactions
ENSG00000132646	chromatin interactions
ENSG00000062282	chromatin interactions
ENSG00000254826	chromatin interactions
SEC24A	miRNA target sites
ATL2	miRNA target sites

Extended variants
information (count: 110 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142263233	chr11:75478731-75478732	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs376184486	chr11:75478734-75478735	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs369472955	chr11:75478760-75478761	Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs559611502	chr11:75478933-75478934	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs573033190	chr11:75478990-75478991	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs35194231	chr11:75479014-75479015	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs117394901	chr11:75479015-75479016	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs35597706	chr11:75479097-75479098	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs565124310	chr11:75479104-75479105	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs146179144	chr11:75479135-75479136	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs114534757	chr11:75479140-75479141	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs75999611	chr11:75479154-75479155	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs374157302	chr11:75479163-75479164	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs12294375	chr11:75479165-75479166	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs73504548	chr11:75479188-75479189	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs546939237	chr11:75479253-75479254	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs76556602	chr11:75479254-75479255	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs60736389	chr11:75479264-75479265	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs532716590	chr11:75479275-75479276	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs374566184	chr11:75479297-75479298	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs138247524	chr11:75479303-75479304	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs537928507	chr11:75479339-75479340	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs555066395	chr11:75479409-75479410	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	4 gene(s)	Overlapped CNVs	n/a
24	rs377454895	chr11:75479418-75479419	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	4 gene(s)	Overlapped CNVs	n/a
25	rs553256875	chr11:75479444-75479445	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	4 gene(s)	Overlapped CNVs	n/a
26	rs528070511	chr11:75479468-75479469	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	4 gene(s)	Overlapped CNVs	n/a
27	rs573171396	chr11:75479527-75479528	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs181107588	chr11:75479547-75479548	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
29	rs545362114	chr11:75479560-75479561	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
30	rs558763355	chr11:75479573-75479574	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
31	rs575532498	chr11:75479580-75479581	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
32	rs543939419	chr11:75479588-75479589	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
33	rs369890740	chr11:75479630-75479631	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
34	rs34258418	chr11:75479637-75479638	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
35	rs529614098	chr11:75479645-75479646	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
36	rs540222457	chr11:75479649-75479650	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
37	rs184024595	chr11:75479654-75479655	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
38	rs140947438	chr11:75479664-75479665	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
39	rs552476872	chr11:75479677-75479678	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
40	rs569077779	chr11:75479691-75479692	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
41	rs557569807	chr11:75479700-75479701	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs548350895	chr11:75479741-75479742	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs568543500	chr11:75479745-75479746	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs534078339	chr11:75479772-75479773	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs554199251	chr11:75479783-75479784	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs570891875	chr11:75479825-75479826	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs150209566	chr11:75479829-75479830	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs558908306	chr11:75479833-75479834	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs575306291	chr11:75479834-75479835	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs544401362	chr11:75479837-75479838	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Melanoma	18172304	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21482786	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	16608533	CNVD
Usher syndrome	18421352	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Ovarian cancer	21240255	CNVD

Chromatin state (count:462 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75474800-75479000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr11:75475200-75479000	Weak transcription	Pancreas	Pancrea
3	chr11:75475600-75479200	Weak transcription	HMEC	breast
4	chr11:75475800-75478800	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr11:75475800-75478800	Weak transcription	Liver	Liver
6	chr11:75476200-75478800	Enhancers	HepG2	liver
7	chr11:75477000-75479000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr11:75477000-75479000	Enhancers	GM12878-XiMat	blood
9	chr11:75477000-75479200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr11:75477000-75479200	Enhancers	Adipose Nuclei	Adipose
11	chr11:75477400-75479000	Weak transcription	Gastric	stomach
12	chr11:75477600-75479000	Enhancers	K562	blood
13	chr11:75477800-75479000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:75477800-75479000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr11:75477800-75479200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:75477800-75479200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:75477800-75479200	Bivalent Enhancer	Fetal Muscle Leg	muscle
18	chr11:75477800-75479400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:75478000-75479000	Enhancers	Primary B cells from peripheral blood	blood
20	chr11:75478000-75479200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:75478000-75481800	Enhancers	Fetal Heart	heart
22	chr11:75478200-75478800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr11:75478200-75478800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
24	chr11:75478200-75479200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:75478200-75479400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:75478200-75479400	Enhancers	Spleen	Spleen
27	chr11:75478400-75479000	Bivalent Enhancer	Colonic Mucosa	Colon
28	chr11:75478400-75479000	Enhancers	Stomach Smooth Muscle	stomach
29	chr11:75478400-75479400	Enhancers	Left Ventricle	heart
30	chr11:75478400-75480000	Enhancers	Lung	lung
31	chr11:75478600-75479000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr11:75478600-75479000	Weak transcription	Right Atrium	heart
33	chr11:75478600-75479000	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr11:75478600-75479200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr11:75478600-75479200	Bivalent Enhancer	Fetal Intestine Large	intestine
36	chr11:75478800-75479000	Enhancers	Primary B cells from cord blood	blood
37	chr11:75478800-75479000	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr11:75478800-75479000	Enhancers	Liver	Liver
39	chr11:75478800-75479000	Enhancers	Brain Angular Gyrus	brain
40	chr11:75478800-75479000	Enhancers	Brain Hippocampus Middle	brain
41	chr11:75478800-75479000	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr11:75478800-75479000	Bivalent Enhancer	Colon Smooth Muscle	Colon
43	chr11:75478800-75479000	Enhancers	Placenta Amnion	Placenta Amnion
44	chr11:75478800-75479000	Enhancers	Rectal Smooth Muscle	rectum
45	chr11:75478800-75479000	Enhancers	A549	lung
46	chr11:75478800-75479000	Enhancers	Hela-S3	cervix
47	chr11:75478800-75479200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
48	chr11:75478800-75479200	Enhancers	Primary hematopoietic stem cells	blood
49	chr11:75478800-75479200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr11:75478800-75479200	Bivalent Enhancer	Fetal Intestine Small	intestine

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