Variant report

Variant	esv3357620
Chromosome Location	chr11:74951054-74954252
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:525)
CpG islands
(count:490)
Chromatin interactive
region (count:22)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:74952749-74952918	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:74952687-74952993	K562	blood:	n/a	n/a
3	ATF3	chr11:74952515-74953036	K562	blood:	n/a	n/a
4	BACH1	chr11:74952712-74952993	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr11:74952116-74952443	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCLAF1	chr11:74952601-74953085	GM12878	blood:	n/a	n/a
7	BHLHE40	chr11:74951388-74951751	K562	blood:	n/a	chr11:74951656-74951672
8	BHLHE40	chr11:74952704-74953043	GM12878	blood:	n/a	n/a
9	BHLHE40	chr11:74952360-74953143	K562	blood:	n/a	n/a
10	BHLHE40	chr11:74953507-74953603	K562	blood:	n/a	n/a
11	BRCA1	chr11:74952733-74952941	H1-hESC	embryonic stem cell:	n/a	n/a
12	BRCA1	chr11:74952719-74952944	HepG2	liver:	n/a	n/a
13	CBX3	chr11:74952649-74953049	K562	blood:	n/a	n/a
14	CBX3	chr11:74952666-74952959	K562	blood:	n/a	n/a
15	CCNT2	chr11:74951808-74953252	K562	blood:	n/a	chr11:74951881-74951890
16	CEBPB	chr11:74952796-74952979	HepG2	liver:	n/a	n/a
17	CEBPB	chr11:74952788-74952979	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr11:74952657-74953004	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD1	chr11:74952511-74953352	IMR90	lung:	n/a	n/a
20	CHD1	chr11:74952841-74952970	GM12878	blood:	n/a	n/a
21	CHD2	chr11:74952734-74952972	HepG2	liver:	n/a	n/a
22	CHD2	chr11:74952824-74952958	Hela-S3	cervix:	n/a	n/a
23	CHD2	chr11:74952665-74952899	K562	blood:	n/a	n/a
24	CHD2	chr11:74952628-74953081	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD2	chr11:74952652-74952961	GM12878	blood:	n/a	n/a
26	CREB1	chr11:74952025-74953166	HepG2	liver:	n/a	n/a
27	CREB1	chr11:74952592-74953102	H1-hESC	embryonic stem cell:	n/a	n/a
28	CREB1	chr11:74952089-74952501	H1-hESC	embryonic stem cell:	n/a	n/a
29	CREB1	chr11:74952301-74953102	A549	lung:	n/a	n/a
30	CTBP2	chr11:74951385-74953406	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr11:74952506-74952520	GM12891	blood:	n/a	n/a
32	CTCF	chr11:74952760-74952910	NHLF	lung:	n/a	n/a
33	CTCF	chr11:74952760-74952910	GM12871	blood:	n/a	n/a
34	CTCF	chr11:74952780-74952930	WERI-Rb-1	eye:	n/a	n/a
35	CTCF	chr11:74952722-74952993	A549	lung:	n/a	n/a
36	CTCF	chr11:74952673-74953139	MCF-7	breast:	n/a	n/a
37	CTCF	chr11:74952231-74952251	GM12892	blood:	n/a	n/a
38	CTCF	chr11:74952574-74953161	A549	lung:	n/a	n/a
39	CTCF	chr11:74952595-74953079	K562	blood:	n/a	n/a
40	CTCF	chr11:74952740-74952890	GM12868	blood:	n/a	n/a
41	CTCF	chr11:74952320-74952322	MCF-7	breast:	n/a	n/a
42	CTCF	chr11:74952740-74952890	AG09309	skin:	n/a	n/a
43	CTCF	chr11:74952780-74952930	HMF	breast:	n/a	n/a
44	CTCF	chr11:74953050-74953059	GM19240	blood:	n/a	n/a
45	CTCF	chr11:74952740-74952890	GM12872	blood:	n/a	n/a
46	CTCF	chr11:74952683-74953029	ProgFib	skin:	n/a	n/a
47	CTCF	chr11:74952800-74952950	GM12878	blood:	n/a	n/a
48	CTCF	chr11:74952760-74952910	HVMF	connective:	n/a	n/a
49	CTCF	chr11:74952701-74953048	SK-N-SH_RA	brain:	n/a	n/a
50	CTCF	chr11:74952720-74952870	GM12864	blood:	n/a	n/a

(count:490 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:74951923-74951973	SK-N-SH_RA	brain:	n/a
2	chr11:74952165-74952215	AoSMC	blood vessel:	n/a
3	chr11:74951923-74951973	SK-N-SH_RA	brain:	n/a
4	chr11:74952165-74952215	AoSMC	blood vessel:	n/a
5	chr11:74953082-74953132	HPAEpiC	pulmonary alveolar:	n/a
6	chr11:74952787-74952837	K562	blood:	n/a
7	chr11:74953490-74953540	HIPEpiC	eye:	n/a
8	chr11:74953082-74953132	AoSMC	blood vessel:	n/a
9	chr11:74953490-74953540	NB4	blood:	n/a
10	chr11:74951359-74951409	SAEC	small airway:	n/a
11	chr11:74951179-74951229	Jurkat	blood:	n/a
12	chr11:74952165-74952215	HCPEpiC	choroid plexus:	n/a
13	chr11:74951179-74951229	HEEpiC	esophagus:	n/a
14	chr11:74952787-74952837	GM19239	blood:	n/a
15	chr11:74952787-74952837	HEK293	kidney:	embryo
16	chr11:74953490-74953540	GM19239	blood:	n/a
17	chr11:74951923-74951973	LNCaP	prostate:	n/a
18	chr11:74953490-74953540	HCM	heart:	n/a
19	chr11:74953490-74953540	Caco-2	colon:	n/a
20	chr11:74951923-74951973	HepG2	liver:	n/a
21	chr11:74951179-74951229	HIPEpiC	eye:	n/a
22	chr11:74953082-74953132	NT2-D1	testis:	n/a
23	chr11:74953082-74953132	AG09319	gingival:	n/a
24	chr11:74951923-74951973	PFSK-1	brain:	n/a
25	chr11:74952790-74952840	PANC-1	pancreas:	n/a
26	chr11:74952787-74952837	SK-N-SH_RA	brain:	n/a
27	chr11:74952165-74952215	GM12892	blood:	n/a
28	chr11:74951179-74951229	HCM	heart:	n/a
29	chr11:74951179-74951229	MCF-7	breast:	n/a
30	chr11:74952787-74952837	NT2-D1	testis:	n/a
31	chr11:74952165-74952215	U87	brain:	n/a
32	chr11:74953490-74953540	AG04449	skin:	fetal
33	chr11:74951179-74951229	Caco-2	colon:	n/a
34	chr11:74953490-74953540	NHBE	bronchial:	n/a
35	chr11:74952790-74952840	AoSMC	blood vessel:	n/a
36	chr11:74951923-74951973	Hela-S3	cervix:	n/a
37	chr11:74952787-74952837	AG10803	skin:	n/a
38	chr11:74953490-74953540	HMEC	breast:	n/a
39	chr11:74951179-74951229	H1-hESC	embryonic stem cell:	embryo
40	chr11:74951923-74951973	HRE	kidney:	n/a
41	chr11:74951179-74951229	RPTEC	kidney:	n/a
42	chr11:74952790-74952840	HRE	kidney:	n/a
43	chr11:74951179-74951229	AG04450	lung:	fetal
44	chr11:74952787-74952837	HPAEpiC	pulmonary alveolar:	n/a
45	chr11:74952790-74952840	HRCEpiC	kidney:	n/a
46	chr11:74953490-74953540	PFSK-1	brain:	n/a
47	chr11:74952787-74952837	HUVEC	blood vessel:	n/a
48	chr11:74953082-74953132	Caco-2	colon:	n/a
49	chr11:74951359-74951409	MCF-7	breast:	n/a
50	chr11:74952787-74952837	AG09319	gingival:	n/a

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:74915518..74916204-chr11:74952277..74953016,2	MCF-7	breast:
2	chr11:74952768..74954538-chr11:74955270..74959114,3	K562	blood:
3	chr11:74660462..74662157-chr11:74951131..74952954,2	K562	blood:
4	chr11:74952691..74953296-chr11:75095152..75095848,2	K562	blood:
5	chr11:74855250..74856195-chr11:74952793..74953318,2	K562	blood:
6	chr11:74733622..74734624-chr11:74952400..74953312,9	MCF-7	breast:
7	chr11:74855244..74856442-chr11:74952713..74953475,5	MCF-7	breast:
8	chr11:74924673..74926005-chr11:74952370..74953068,4	MCF-7	breast:
9	chr11:74925000..74926013-chr11:74952324..74953354,12	MCF-7	breast:
10	chr11:74953050..74955146-chr11:75048496..75050415,2	K562	blood:
11	chr11:74640083..74642436-chr11:74952777..74954746,3	MCF-7	breast:
12	chr11:74742652..74743217-chr11:74952410..74953405,2	K562	blood:
13	chr11:74733768..74734574-chr11:74952444..74953243,2	MCF-7	breast:
14	chr11:74657727..74660130-chr11:74951983..74953797,2	K562	blood:
15	chr11:74735572..74736278-chr11:74952296..74952887,2	K562	blood:
16	chr11:74925158..74925973-chr11:74952278..74953089,3	K562	blood:
17	chr11:74923854..74925700-chr11:74949115..74951246,2	K562	blood:
18	chr11:74952321..74952936-chr12:76424646..76425589,2	HCT-116	colon:
19	chr11:74659830..74661713-chr11:74952303..74954332,2	MCF-7	breast:
20	chr11:74733402..74734825-chr11:74952350..74953292,7	K562	blood:
21	chr11:74930581..74931130-chr11:74952289..74952870,2	K562	blood:
22	chr11:74920713..74922645-chr11:74953043..74955609,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARRB1-1	chr11:74952051-74952218	ENSG00000255136.1
2	lnc-ARRB1-1	chr11:74952051-74952092	ENSG00000255136.2

No data

Variant related genes	Relation type
ENSG00000255136	TF binding region
TPBGL	TF binding region
ENSG00000255136	CpG island
TPBGL	CpG island
ENSG00000166435	chromatin interactions
ENSG00000118363	chromatin interactions
ENSG00000139289	chromatin interactions

Extended variants
information (count: 94 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567531983	chr11:74951095-74951096	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536697857	chr11:74951096-74951097	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185092987	chr11:74951097-74951098	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148147627	chr11:74951104-74951105	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539157887	chr11:74951133-74951134	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs557949251	chr11:74951135-74951136	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs189798256	chr11:74951151-74951152	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs557605847	chr11:74951186-74951187	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs7927563	chr11:74951191-74951192	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs372988684	chr11:74951234-74951235	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs376991311	chr11:74951241-74951242	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs142622341	chr11:74951303-74951304	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs575868229	chr11:74951314-74951315	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs573545638	chr11:74951320-74951321	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs542566086	chr11:74951325-74951326	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs552550203	chr11:74951328-74951329	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs369791319	chr11:74951356-74951357	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs193161366	chr11:74951367-74951368	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs572578462	chr11:74951377-74951378	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs74495577	chr11:74951417-74951418	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs565124024	chr11:74951426-74951427	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs531164080	chr11:74951444-74951445	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs184600776	chr11:74951460-74951461	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs561667078	chr11:74951493-74951494	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs530336852	chr11:74951508-74951509	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs7927925	chr11:74951534-74951535	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs545014302	chr11:74951540-74951541	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs566887469	chr11:74951564-74951565	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs376212661	chr11:74951566-74951567	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs80061879	chr11:74951568-74951569	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs563132958	chr11:74951588-74951589	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs77276998	chr11:74951620-74951621	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs556884224	chr11:74951624-74951625	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs567503446	chr11:74951718-74951719	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs536180134	chr11:74951749-74951750	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs117519402	chr11:74951796-74951797	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs572541895	chr11:74951799-74951800	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs544684066	chr11:74951841-74951842	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs558279221	chr11:74951920-74951921	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs575741373	chr11:74951974-74951975	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs146907924	chr11:74952055-74952056	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
42	rs575335603	chr11:74952088-74952089	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
43	rs561327607	chr11:74952122-74952123	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
44	rs138623574	chr11:74952139-74952140	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
45	rs540961364	chr11:74952140-74952141	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
46	rs189930706	chr11:74952161-74952162	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
47	rs142698935	chr11:74952295-74952296	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs113616037	chr11:74952431-74952432	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs552692995	chr11:74952497-74952498	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs150733827	chr11:74952556-74952557	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Hodgkin''s lymphoma	18641027	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:459 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74945400-74951600	Weak transcription	Ovary	ovary
2	chr11:74950000-74951200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:74950200-74951200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
4	chr11:74950200-74951200	Enhancers	H9 Cell Line	embryonic stem cell
5	chr11:74950400-74951200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
6	chr11:74950600-74951200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:74950600-74951400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:74950800-74951200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
9	chr11:74951000-74951200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
10	chr11:74951000-74951200	Bivalent/Poised TSS	Primary T helper cells PMA-I stimulated	--
11	chr11:74951000-74951400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:74951000-74951400	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:74951000-74951400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
14	chr11:74951000-74951400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
15	chr11:74951000-74951400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:74951000-74951400	Bivalent Enhancer	Brain Germinal Matrix	brain
17	chr11:74951000-74951400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr11:74951000-74951400	Bivalent Enhancer	Fetal Stomach	stomach
19	chr11:74951000-74951600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
20	chr11:74951000-74952200	Enhancers	Spleen	Spleen
21	chr11:74951000-74953200	Active TSS	Brain Anterior Caudate	brain
22	chr11:74951000-74953400	Active TSS	Brain Angular Gyrus	brain
23	chr11:74951000-74953600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
24	chr11:74951200-74951400	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
25	chr11:74951200-74951400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
26	chr11:74951200-74951400	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
27	chr11:74951200-74951400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:74951200-74951400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
29	chr11:74951200-74951400	Bivalent/Poised TSS	Primary T helper memory cells from peripheral blood 2	blood
30	chr11:74951200-74951400	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
31	chr11:74951200-74951400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
32	chr11:74951200-74951400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
33	chr11:74951200-74951400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
34	chr11:74951200-74951400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
35	chr11:74951200-74951400	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr11:74951200-74951400	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
37	chr11:74951200-74951400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:74951200-74951400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr11:74951200-74951400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
40	chr11:74951200-74951400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr11:74951200-74951400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:74951200-74951400	Bivalent/Poised TSS	Adipose Nuclei	Adipose
43	chr11:74951200-74951400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
44	chr11:74951200-74951400	Bivalent Enhancer	Fetal Muscle Leg	muscle
45	chr11:74951200-74951400	Bivalent Enhancer	Placenta	Placenta
46	chr11:74951200-74951400	Enhancers	Right Atrium	heart
47	chr11:74951200-74951400	Bivalent Enhancer	HepG2	liver
48	chr11:74951200-74951400	Bivalent Enhancer	HUVEC	blood vessel
49	chr11:74951200-74951600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
50	chr11:74951200-74951600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links