Variant report

Variant	esv3343139
Chromosome Location	chr11:64121226-64123624
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:506)
CpG islands
(count:61)
Chromatin interactive
region (count:39)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:506 , 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	chr11:64122701-64122980	K562	blood:	n/a	n/a
2	ARID3A	chr11:64122629-64122937	HepG2	liver:	n/a	n/a
3	ATF2	chr11:64122543-64122807	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF3	chr11:64122518-64123040	K562	blood:	n/a	n/a
5	ATF3	chr11:64122574-64122964	K562	blood:	n/a	n/a
6	ATF3	chr11:64122555-64123002	A549	lung:	n/a	n/a
7	BACH1	chr11:64122562-64123110	H1-hESC	embryonic stem cell:	n/a	n/a
8	BATF	chr11:64122619-64122877	GM12878	blood:	n/a	chr11:64122783-64122794
9	BCL3	chr11:64122444-64123302	A549	lung:	n/a	n/a
10	BCL3	chr11:64122582-64123022	A549	lung:	n/a	n/a
11	BCLAF1	chr11:64122478-64122945	GM12878	blood:	n/a	n/a
12	BHLHE40	chr11:64122569-64123102	K562	blood:	n/a	n/a
13	BHLHE40	chr11:64122765-64122854	A549	lung:	n/a	n/a
14	BHLHE40	chr11:64122624-64122884	GM12878	blood:	n/a	n/a
15	BRCA1	chr11:64122617-64122927	Hela-S3	cervix:	n/a	n/a
16	BRCA1	chr11:64122817-64122893	HepG2	liver:	n/a	n/a
17	CBX3	chr11:64122441-64123382	K562	blood:	n/a	n/a
18	CCNT2	chr11:64122581-64122986	K562	blood:	n/a	n/a
19	CEBPB	chr11:64122618-64122799	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr11:64122563-64122944	K562	blood:	n/a	n/a
21	CEBPB	chr11:64122538-64123012	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr11:64122575-64122775	HepG2	liver:	n/a	n/a
23	CEBPB	chr11:64122657-64122931	A549	lung:	n/a	n/a
24	CEBPB	chr11:64122696-64122881	K562	blood:	n/a	n/a
25	CEBPD	chr11:64122473-64122863	HepG2	liver:	n/a	n/a
26	CHD1	chr11:64122597-64122708	H1-hESC	embryonic stem cell:	n/a	n/a
27	CHD2	chr11:64122654-64122846	GM12878	blood:	n/a	n/a
28	CHD2	chr11:64122707-64122979	K562	blood:	n/a	n/a
29	CHD2	chr11:64122557-64122997	Hela-S3	cervix:	n/a	n/a
30	CHD2	chr11:64122532-64122847	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD2	chr11:64122859-64122883	HepG2	liver:	n/a	n/a
32	CREB1	chr11:64122503-64123210	A549	lung:	n/a	n/a
33	CTCF	chr11:64122620-64122770	SAEC	small airway:	n/a	n/a
34	CTCF	chr11:64122583-64122914	GM10266	blood:	n/a	n/a
35	CTCF	chr11:64122579-64122931	Medullo	brain:	n/a	n/a
36	CTCF	chr11:64122700-64122850	GM12865	blood:	n/a	n/a
37	CTCF	chr11:64122487-64123008	A549	lung:	n/a	n/a
38	CTCF	chr11:64122660-64122810	HPAF	blood vessel:	n/a	n/a
39	CTCF	chr11:64122660-64122810	AG10803	skin:	n/a	n/a
40	CTCF	chr11:64122493-64123032	GM12878	blood:	n/a	n/a
41	CTCF	chr11:64122660-64122810	SAEC	small airway:	n/a	n/a
42	CTCF	chr11:64122660-64122810	HBMEC	blood vessel:	n/a	n/a
43	CTCF	chr11:64122602-64122898	GM13977	blood:	n/a	n/a
44	CTCF	chr11:64122660-64122810	Caco-2	colon:	n/a	n/a
45	CTCF	chr11:64122700-64122850	NHEK	skin:	n/a	n/a
46	CTCF	chr11:64122594-64122944	HepG2	liver:	n/a	n/a
47	CTCF	chr11:64122680-64122830	WERI-Rb-1	eye:	n/a	n/a
48	CTCF	chr11:64122660-64122810	GM12865	blood:	n/a	n/a
49	CTCF	chr11:64122680-64122830	HRE	kidney:	n/a	n/a
50	CTCF	chr11:64122640-64122790	GM12865	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:64122743-64122793	SK-N-SH_RA	brain:	n/a
2	chr11:64122743-64122793	NHBE	bronchial:	n/a
3	chr11:64122743-64122793	NHDF-neo	bronchial:	n/a
4	chr11:64122743-64122793	ECC-1	luminal epithelium:	n/a
5	chr11:64122743-64122793	SK-N-MC	brain:	n/a
6	chr11:64122743-64122793	Hepatocyte	liver:	n/a
7	chr11:64122743-64122793	RPTEC	kidney:	n/a
8	chr11:64122743-64122793	SAEC	small airway:	n/a
9	chr11:64122743-64122793	HUVEC	blood vessel:	n/a
10	chr11:64122743-64122793	HRE	kidney:	n/a
11	chr11:64122743-64122793	AG04450	lung:	fetal
12	chr11:64122743-64122793	HIPEpiC	eye:	n/a
13	chr11:64122743-64122793	HCM	heart:	n/a
14	chr11:64122743-64122793	IMR90	lung:	fetal
15	chr11:64122743-64122793	U87	brain:	n/a
16	chr11:64122743-64122793	SKMC	muscle:	n/a
17	chr11:64122743-64122793	GM12892	blood:	n/a
18	chr11:64122743-64122793	SK-N-SH	brain:	n/a
19	chr11:64122743-64122793	HCF	heart:	n/a
20	chr11:64122743-64122793	AG09309	skin:	n/a
21	chr11:64122743-64122793	NB4	blood:	n/a
22	chr11:64122743-64122793	T-47D	breast:	n/a
23	chr11:64122743-64122793	HL-60	blood:	n/a
24	chr11:64122743-64122793	GM12878	blood:	n/a
25	chr11:64122743-64122793	ProgFib	skin:	n/a
26	chr11:64122743-64122793	GM06990	blood:	n/a
27	chr11:64122743-64122793	HEEpiC	esophagus:	n/a
28	chr11:64122743-64122793	PANC-1	pancreas:	n/a
29	chr11:64122743-64122793	HCT-116	colon:	n/a
30	chr11:64122743-64122793	PrEC	prostate:	n/a
31	chr11:64122743-64122793	AoSMC	blood vessel:	n/a
32	chr11:64122743-64122793	AG10803	skin:	n/a
33	chr11:64122743-64122793	AG09319	gingival:	n/a
34	chr11:64122743-64122793	A549	lung:	n/a
35	chr11:64122743-64122793	HRPEpiC	eye:	n/a
36	chr11:64122743-64122793	GM19239	blood:	n/a
37	chr11:64122743-64122793	HepG2	liver:	n/a
38	chr11:64122743-64122793	NH-A	brain:	n/a
39	chr11:64122743-64122793	BJ	skin:	n/a
40	chr11:64122743-64122793	HEK293	kidney:	embryo
41	chr11:64122743-64122793	MCF-7	breast:	n/a
42	chr11:64122743-64122793	CMK	blood:	n/a
43	chr11:64122743-64122793	HCPEpiC	choroid plexus:	n/a
44	chr11:64122743-64122793	PFSK-1	brain:	n/a
45	chr11:64122743-64122793	HNPCEpiC	eye:	n/a
46	chr11:64122743-64122793	NT2-D1	testis:	n/a
47	chr11:64122743-64122793	HRCEpiC	kidney:	n/a
48	chr11:64122743-64122793	ovcar-3	ovarian:	n/a
49	chr11:64122743-64122793	HPAEpiC	pulmonary alveolar:	n/a
50	chr11:64122743-64122793	Hela-S3	cervix:	n/a

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64111304..64115119-chr11:64121660..64123596,3	MCF-7	breast:
2	chr11:64082853..64088243-chr11:64119014..64129028,17	MCF-7	breast:
3	chr11:62607992..62610437-chr11:64119993..64122417,2	MCF-7	breast:
4	chr11:63995120..63997968-chr11:64121307..64123121,2	K562	blood:
5	chr11:64123441..64125427-chr11:64411243..64414199,2	K562	blood:
6	chr11:64083913..64086967-chr11:64122125..64127376,8	MCF-7	breast:
7	chr11:64085446..64086052-chr11:64122259..64122861,3	K562	blood:
8	chr11:64013318..64016582-chr11:64121712..64124866,3	MCF-7	breast:
9	chr11:64073125..64074029-chr11:64122872..64123422,2	MCF-7	breast:
10	chr11:64035813..64037361-chr11:64122945..64124562,2	K562	blood:
11	chr11:64007008..64012234-chr11:64122125..64125548,6	K562	blood:
12	chr11:64052517..64054991-chr11:64119891..64124085,3	K562	blood:
13	chr11:64122273..64122886-chr11:64216141..64216666,2	K562	blood:
14	chr11:64083884..64087111-chr11:64122613..64125426,3	K562	blood:
15	chr11:64038885..64039522-chr11:64122350..64122916,2	MCF-7	breast:
16	chr11:64067348..64069448-chr11:64121257..64124209,2	K562	blood:
17	chr11:64073021..64075424-chr11:64122972..64125774,2	MCF-7	breast:
18	chr11:64071691..64076218-chr11:64119080..64123328,5	MCF-7	breast:
19	chr11:64119430..64124364-chr11:64124831..64128743,7	MCF-7	breast:
20	chr11:64085427..64086263-chr11:64122198..64123128,2	MCF-7	breast:
21	chr11:64084510..64086819-chr11:64119650..64121961,3	MCF-7	breast:
22	chr11:64085156..64086417-chr11:64121827..64123266,8	MCF-7	breast:
23	chr11:63972047..63977847-chr11:64122012..64128099,8	K562	blood:
24	chr11:64108620..64111741-chr11:64119418..64122798,4	MCF-7	breast:
25	chr11:64069494..64072253-chr11:64119496..64122184,3	MCF-7	breast:
26	chr11:64051486..64055490-chr11:64121214..64124233,3	MCF-7	breast:
27	chr11:64083348..64086402-chr11:64116093..64121800,6	K562	blood:
28	chr11:64073758..64075517-chr11:64122696..64124221,2	K562	blood:
29	chr11:64018758..64019464-chr11:64122319..64123422,3	K562	blood:
30	chr11:64081246..64082787-chr11:64121396..64124105,2	K562	blood:
31	chr11:64106209..64107766-chr11:64119904..64122675,2	MCF-7	breast:
32	chr11:64053599..64055406-chr11:64121641..64123731,2	K562	blood:
33	chr11:64109688..64110714-chr11:64122196..64123136,4	MCF-7	breast:
34	chr11:64122681..64124729-chr11:64134765..64136961,2	K562	blood:
35	chr11:64122365..64123400-chr11:64216043..64217247,4	MCF-7	breast:
36	chr11:64109671..64110552-chr11:64122307..64123186,2	K562	blood:
37	chr11:63972384..63977847-chr11:64121311..64126015,8	K562	blood:
38	chr11:64084196..64085100-chr11:64122250..64123142,2	K562	blood:
39	chr11:64083996..64085045-chr11:64122370..64123374,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RPS6KA4-1	chr11:64122815-64123100	NONHSAT021990

No data

Variant related genes	Relation type
CCDC88B	TF binding region
RPS6KA4	TF binding region
CCDC88B	CpG island
RPS6KA4	CpG island
ENSG00000219435	chromatin interactions
ENSG00000256940	chromatin interactions
ENSG00000173264	chromatin interactions
ENSG00000149761	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000237410	chromatin interactions
ENSG00000126432	chromatin interactions
ENSG00000168071	chromatin interactions
ENSG00000181908	chromatin interactions
ENSG00000149782	chromatin interactions
ENSG00000149781	chromatin interactions
ENSG00000173457	chromatin interactions
ENSG00000162302	chromatin interactions
ENSG00000221273	chromatin interactions
ENSG00000002330	chromatin interactions
ENSG00000173153	chromatin interactions
ENSG00000110011	chromatin interactions
ENSG00000173486	chromatin interactions
ENSG00000173113	chromatin interactions

Extended variants
information (count: 104 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141842076	chr11:64121264-64121265	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
2	rs373925959	chr11:64121265-64121266	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
3	rs377362144	chr11:64121278-64121279	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
4	rs185293546	chr11:64121363-64121364	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
5	rs576002731	chr11:64121422-64121423	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
6	rs370555215	chr11:64121452-64121453	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
7	rs201832683	chr11:64121458-64121459	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
8	rs375087093	chr11:64121485-64121486	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
9	rs377669904	chr11:64121509-64121510	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
10	rs368462558	chr11:64121516-64121517	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
11	rs371985275	chr11:64121517-64121518	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
12	rs35974392	chr11:64121536-64121537	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
13	rs558256802	chr11:64121582-64121583	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
14	rs571788762	chr11:64121584-64121585	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
15	rs540864966	chr11:64121602-64121603	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
16	rs561141914	chr11:64121607-64121608	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
17	rs199683609	chr11:64121622-64121623	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
18	rs12798408	chr11:64121657-64121658	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs561447182	chr11:64121698-64121699	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
20	rs563409848	chr11:64121753-64121754	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
21	rs531768101	chr11:64121769-64121770	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
22	rs551785866	chr11:64121773-64121774	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
23	rs571810522	chr11:64122033-64122034	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
24	rs57480353	chr11:64122045-64122046	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs190067102	chr11:64122060-64122061	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
26	rs12281471	chr11:64122134-64122135	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs60216569	chr11:64122162-64122163	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
28	rs370604268	chr11:64122163-64122164	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
29	rs57984058	chr11:64122172-64122173	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
30	rs199751146	chr11:64122173-64122174	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
31	rs200543489	chr11:64122175-64122176	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
32	rs556837954	chr11:64122200-64122201	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
33	rs377574995	chr11:64122242-64122243	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
34	rs182700120	chr11:64122260-64122261	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
35	rs118002009	chr11:64122279-64122280	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	mRNA abundance
36	rs117660951	chr11:64122288-64122289	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	mRNA abundance
37	rs558117826	chr11:64122289-64122290	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
38	rs376261200	chr11:64122290-64122291	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
39	rs571853091	chr11:64122349-64122350	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
40	rs111634105	chr11:64122352-64122353	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
41	rs567001169	chr11:64122367-64122368	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
42	rs541133470	chr11:64122411-64122412	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
43	rs184990127	chr11:64122427-64122428	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
44	rs574597736	chr11:64122477-64122478	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
45	rs36095194	chr11:64122520-64122521	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
46	rs543231292	chr11:64122529-64122530	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
47	rs115133970	chr11:64122556-64122557	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
48	rs189846712	chr11:64122567-64122568	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
49	rs545466286	chr11:64122587-64122588	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
50	rs73484024	chr11:64122610-64122611	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:96)

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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	21785460	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	17217626	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	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
Anaplastic thyroid cancer	18753363	CNVD
Prostate cancer	18779856	CNVD
Cancer	17160897	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
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:390 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64110000-64122400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr11:64110200-64125000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr11:64110200-64125200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr11:64110800-64121400	Strong transcription	Primary T cells from cord blood	blood
5	chr11:64110800-64122400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr11:64110800-64122400	Weak transcription	Lung	lung
7	chr11:64110800-64122800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr11:64110800-64123400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr11:64111000-64121800	Weak transcription	Right Ventricle	heart
10	chr11:64111000-64122400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr11:64111000-64122400	Weak transcription	Colon Smooth Muscle	Colon
12	chr11:64111000-64122400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr11:64111000-64122400	Weak transcription	Right Atrium	heart
14	chr11:64111000-64122600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr11:64111000-64124200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr11:64111000-64125000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr11:64111200-64121800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr11:64111200-64121800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr11:64111200-64122400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr11:64111400-64122400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr11:64111400-64122600	Weak transcription	Gastric	stomach
22	chr11:64111800-64125000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr11:64112000-64125000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr11:64113800-64125000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr11:64115000-64121600	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr11:64115000-64121600	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr11:64115000-64121800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr11:64115000-64121800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:64115000-64122400	Weak transcription	K562	blood
30	chr11:64115400-64125600	Weak transcription	GM12878-XiMat	blood
31	chr11:64115800-64125000	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr11:64116000-64122000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr11:64116200-64121800	Weak transcription	A549	lung
34	chr11:64116200-64122400	Weak transcription	Brain Substantia Nigra	brain
35	chr11:64116200-64122400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr11:64116200-64122400	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr11:64116400-64121600	Strong transcription	Primary B cells from peripheral blood	blood
38	chr11:64116400-64122400	Weak transcription	Brain Hippocampus Middle	brain
39	chr11:64116600-64122600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:64116800-64122400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:64116800-64122800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:64116800-64124400	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr11:64117600-64121600	Weak transcription	Hela-S3	cervix
44	chr11:64117600-64122400	Weak transcription	Colonic Mucosa	Colon
45	chr11:64118200-64122200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr11:64118400-64123200	Enhancers	Fetal Muscle Leg	muscle
47	chr11:64118600-64121600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr11:64119000-64123200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:64119200-64122000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr11:64119400-64123200	Strong transcription	Thymus	Thymus

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