Variant report

Variant	rs7124858
Chromosome Location	chr11:65512092-65512093
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:228)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:228 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:65511664-65512573	HCT-116	colon:	n/a	n/a
2	CTCF	chr11:65512000-65512150	GM12874	blood:	n/a	n/a
3	RFX5	chr11:65511986-65512180	HepG2	liver:	n/a	n/a
4	POLR2A	chr11:65512007-65512224	HCT-116	colon:	n/a	n/a
5	TBP	chr11:65512065-65512135	K562	blood:	n/a	n/a
6	RAD21	chr11:65511950-65512390	ECC-1	luminal epithelium:	n/a	n/a
7	CTCF	chr11:65512080-65512230	HCM	heart:	n/a	n/a
8	CTCF	chr11:65511960-65512110	HVMF	connective:	n/a	n/a
9	CTCF	chr11:65512086-65512135	GM20000	blood:	n/a	n/a
10	CTCF	chr11:65511894-65512397	MCF-7	breast:	n/a	n/a
11	POLR2A	chr11:65512058-65512182	MCF-7	breast:	n/a	n/a
12	SMC3	chr11:65511935-65512329	HepG2	liver:	n/a	n/a
13	RAD21	chr11:65511885-65512337	SK-N-SH_RA	brain:	n/a	n/a
14	POLR2A	chr11:65511915-65512207	MCF-7	breast:	n/a	n/a
15	CTCF	chr11:65511960-65512110	HFF-Myc	foreskin:	n/a	n/a
16	CTCF	chr11:65511980-65512130	HAc	cerebellar:	n/a	n/a
17	POLR2A	chr11:65511888-65512328	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr11:65512020-65512170	HA-sp	spinal cord:	n/a	n/a
19	CTCF	chr11:65512060-65512210	HBMEC	blood vessel:	n/a	n/a
20	RAD21	chr11:65511752-65512438	HCT-116	colon:	n/a	n/a
21	POLR2A	chr11:65511815-65512354	HepG2	liver:	n/a	n/a
22	MAZ	chr11:65512006-65512206	HepG2	liver:	n/a	n/a
23	CTCF	chr11:65512001-65512247	MCF-7	breast:	n/a	n/a
24	CTCF	chr11:65512000-65512250	AG04450	lung:	n/a	n/a
25	RAD21	chr11:65511974-65512281	A549	lung:	n/a	n/a
26	SP1	chr11:65511936-65512269	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr11:65512060-65512210	HMF	breast:	n/a	n/a
28	CTCF	chr11:65512020-65512170	NHDF-neo	bronchial:	n/a	n/a
29	CTCF	chr11:65512028-65512209	Fibrobl	skin:	n/a	n/a
30	RAD21	chr11:65511935-65512325	HepG2	liver:	n/a	n/a
31	CTCF	chr11:65512040-65512190	HL-60	blood:	n/a	n/a
32	HEY1	chr11:65512016-65512238	HepG2	liver:	n/a	n/a
33	CTCF	chr11:65512035-65512175	HUVEC	blood vessel:	n/a	n/a
34	MAZ	chr11:65512071-65512170	K562	blood:	n/a	n/a
35	CTCF	chr11:65512040-65512190	AG04449	skin:	n/a	n/a
36	MYBL2	chr11:65511873-65512391	HepG2	liver:	n/a	n/a
37	CTCF	chr11:65512060-65512210	K562	blood:	n/a	n/a
38	CTCF	chr11:65512060-65512210	MCF-7	breast:	n/a	n/a
39	CTCF	chr11:65511907-65512223	SK-N-SH_RA	brain:	n/a	n/a
40	CTCF	chr11:65512060-65512210	GM12864	blood:	n/a	n/a
41	CTCF	chr11:65512060-65512210	WERI-Rb-1	eye:	n/a	n/a
42	SMC3	chr11:65511929-65512335	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr11:65512060-65512210	HRPEpiC	eye:	n/a	n/a
44	NFYB	chr11:65511833-65512257	Hela-S3	cervix:	n/a	chr11:65512033-65512048
45	CTCF	chr11:65512020-65512170	HRPEpiC	eye:	n/a	n/a
46	CTCF	chr11:65511882-65512286	A549	lung:	n/a	n/a
47	BRCA1	chr11:65511981-65512200	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr11:65511844-65512293	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr11:65512040-65512190	HVMF	connective:	n/a	n/a
50	CTCF	chr11:65512040-65512190	GM12873	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65510782..65513153-chr11:65513586..65515481,2	K562	blood:
2	chr11:65510264..65512208-chr11:65547345..65548979,2	K562	blood:
3	chr11:65511343..65512591-chr11:65585351..65586294,10	MCF-7	breast:
4	chr11:65509847..65512521-chr11:65541079..65543934,2	K562	blood:
5	chr11:65511597..65512884-chr11:65585147..65586477,30	MCF-7	breast:
6	chr11:65478910..65479852-chr11:65511683..65512451,2	MCF-7	breast:
7	chr11:65511713..65512488-chr11:65756361..65757355,2	MCF-7	breast:
8	chr11:65511399..65513092-chr11:65547173..65549839,3	MCF-7	breast:
9	chr11:65511623..65512514-chr11:65547091..65548129,3	MCF-7	breast:
10	chr11:65511419..65513078-chr11:65625541..65627932,2	MCF-7	breast:
11	chr11:65511937..65512528-chr11:65537362..65537959,2	MCF-7	breast:
12	chr11:65511963..65512619-chr11:65537012..65537973,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255557	TF binding region
ENSG00000175827	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000254470	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000172977	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1048924	1.00[EUR][1000 genomes]
rs1078458	1.00[EUR][1000 genomes]
rs10896054	1.00[EUR][1000 genomes]
rs1151504	1.00[EUR][1000 genomes]
rs1151520	1.00[EUR][1000 genomes]
rs1194099	1.00[EUR][1000 genomes]
rs12275175	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12283972	1.00[EUR][1000 genomes]
rs12294096	1.00[EUR][1000 genomes]
rs12294241	1.00[EUR][1000 genomes]
rs12294549	1.00[EUR][1000 genomes]
rs12721573	1.00[EUR][1000 genomes]
rs1647569	1.00[EUR][1000 genomes]
rs34035680	1.00[EUR][1000 genomes]
rs35194319	1.00[EUR][1000 genomes]
rs500667	1.00[EUR][1000 genomes]
rs508328	1.00[EUR][1000 genomes]
rs548709	1.00[EUR][1000 genomes]
rs551115	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs551986	1.00[EUR][1000 genomes]
rs56663613	1.00[EUR][1000 genomes]
rs56798161	0.81[AFR][1000 genomes]
rs56990327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs601314	1.00[EUR][1000 genomes]
rs604630	1.00[EUR][1000 genomes]
rs613953	1.00[EUR][1000 genomes]
rs614330	1.00[EUR][1000 genomes]
rs641323	1.00[EUR][1000 genomes]
rs669300	1.00[EUR][1000 genomes]
rs7106444	1.00[EUR][1000 genomes]
rs7107453	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7115662	1.00[EUR][1000 genomes]
rs72556578	1.00[EUR][1000 genomes]
rs73492420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73492424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73492432	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7934992	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897718	chr11:65140209-65577516	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1003 gene(s)	inside rSNPs	diseases
2	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
3	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
4	nsv897758	chr11:65490756-65564035	Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv983035	chr11:65494712-65529501	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65511200-65512400	Flanking Active TSS	Hela-S3	cervix
2	chr11:65511400-65512200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:65511400-65513000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:65511600-65512200	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr11:65511600-65512800	Enhancers	Spleen	Spleen
6	chr11:65511600-65513000	Enhancers	Placenta	Placenta
7	chr11:65511800-65514200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr11:65512000-65512200	Enhancers	Colonic Mucosa	Colon
9	chr11:65512000-65512800	Bivalent/Poised TSS	HepG2	liver

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