Variant report

Variant	rs659522
Chromosome Location	chr18:11925943-11925944
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:87)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:87 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr18:11925664-11926273	MCF-7	breast:	n/a	n/a
2	CEBPD	chr18:11925666-11926226	K562	blood:	n/a	n/a
3	FOXA2	chr18:11925706-11926186	HepG2	liver:	n/a	n/a
4	MAX	chr18:11925800-11926101	K562	blood:	n/a	n/a
5	SIRT6	chr18:11925727-11926300	K562	blood:	n/a	n/a
6	MYC	chr18:11925737-11926183	K562	blood:	n/a	n/a
7	CEBPD	chr18:11925780-11926256	K562	blood:	n/a	n/a
8	CBX3	chr18:11925737-11926048	K562	blood:	n/a	n/a
9	MEF2A	chr18:11925727-11926078	K562	blood:	n/a	n/a
10	MAFF	chr18:11925810-11925980	K562	blood:	n/a	n/a
11	MAX	chr18:11925807-11925987	K562	blood:	n/a	n/a
12	BHLHE40	chr18:11925753-11926157	K562	blood:	n/a	n/a
13	RCOR1	chr18:11925831-11926030	Hela-S3	cervix:	n/a	n/a
14	TRIM28	chr18:11925835-11926109	K562	blood:	n/a	n/a
15	JUN	chr18:11925832-11926128	K562	blood:	n/a	n/a
16	MEF2A	chr18:11925688-11926036	K562	blood:	n/a	n/a
17	ZMIZ1	chr18:11925752-11926125	K562	blood:	n/a	n/a
18	ZNF143	chr18:11925849-11926084	K562	blood:	n/a	n/a
19	POLR2A	chr18:11925747-11926021	K562	blood:	n/a	n/a
20	TRIM28	chr18:11925677-11926269	K562	blood:	n/a	n/a
21	ARID3A	chr18:11925618-11926210	K562	blood:	n/a	n/a
22	NR2F2	chr18:11925650-11926363	HepG2	liver:	n/a	n/a
23	TEAD4	chr18:11925721-11926269	HepG2	liver:	n/a	n/a
24	MXI1	chr18:11925828-11926042	K562	blood:	n/a	n/a
25	GABPA	chr18:11925738-11926073	K562	blood:	n/a	n/a
26	TBL1XR1	chr18:11925785-11926184	K562	blood:	n/a	n/a
27	HDAC2	chr18:11925803-11926103	K562	blood:	n/a	n/a
28	ATF1	chr18:11925758-11926103	K562	blood:	n/a	n/a
29	STAT5A	chr18:11925701-11926258	K562	blood:	n/a	n/a
30	TAL1	chr18:11925731-11926210	K562	blood:	n/a	n/a
31	MYC	chr18:11925832-11925967	K562	blood:	n/a	n/a
32	FOXA1	chr18:11925676-11926249	HepG2	liver:	n/a	n/a
33	RCOR1	chr18:11925544-11926313	K562	blood:	n/a	n/a
34	TCF7L2	chr18:11925825-11926268	Hela-S3	cervix:	n/a	n/a
35	TEAD4	chr18:11925589-11926361	K562	blood:	n/a	n/a
36	CCNT2	chr18:11925742-11926189	K562	blood:	n/a	n/a
37	NR2F2	chr18:11925669-11926302	K562	blood:	n/a	n/a
38	HMGN3	chr18:11925786-11926265	K562	blood:	n/a	n/a
39	TBL1XR1	chr18:11925707-11926193	K562	blood:	n/a	n/a
40	NR2F2	chr18:11925805-11926213	HepG2	liver:	n/a	n/a
41	PML	chr18:11925686-11926174	K562	blood:	n/a	n/a
42	RCOR1	chr18:11925757-11926271	K562	blood:	n/a	n/a
43	GATA1	chr18:11925228-11926398	PBDE	blood:	n/a	n/a
44	CEBPB	chr18:11925785-11926082	K562	blood:	n/a	n/a
45	MAZ	chr18:11925768-11926198	K562	blood:	n/a	n/a
46	ELK1	chr18:11925812-11925968	K562	blood:	n/a	n/a
47	HDAC2	chr18:11925730-11926173	HepG2	liver:	n/a	n/a
48	FOXA1	chr18:11925753-11926255	HepG2	liver:	n/a	n/a
49	TEAD4	chr18:11925642-11926224	K562	blood:	n/a	n/a
50	EP300	chr18:11925837-11926056	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr18:11907322..11909854-chr18:11924483..11927242,3	K562	blood:
2	chr18:11907320..11908885-chr18:11925742..11927633,2	K562	blood:
3	chr18:11925754..11927617-chr18:11981335..11983833,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000267661	TF binding region
ENSG00000154889	Chromatin interaction
ENSG00000141401	Chromatin interaction
ENSG00000273141	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs586496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs603364	1.00[AMR][1000 genomes]
rs615026	1.00[AMR][1000 genomes]
rs630821	1.00[AMR][1000 genomes]
rs639598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs640434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs643107	1.00[AMR][1000 genomes]
rs664515	1.00[AMR][1000 genomes]
rs664698	1.00[AMR][1000 genomes]
rs665562	1.00[AMR][1000 genomes]
rs683498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9949849	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3362008	chr18:11647654-11959830	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1055453	chr18:11776790-12110135	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv543654	chr18:11776790-12110135	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	esv2758470	chr18:11897023-12076102	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	esv2758713	chr18:11897023-12076102	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv909383	chr18:11904266-11926730	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv909384	chr18:11907374-12101109	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
8	nsv1063339	chr18:11909588-11979264	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv576495	chr18:11917410-11986557	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	nsv962489	chr18:11920674-11929409	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11922200-11927200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr18:11923200-11927600	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr18:11924000-11926200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr18:11925200-11926400	Enhancers	Hela-S3	cervix
5	chr18:11925200-11927400	Weak transcription	Fetal Lung	lung
6	chr18:11925200-11927600	Enhancers	HepG2	liver
7	chr18:11925200-11927800	Enhancers	K562	blood
8	chr18:11925800-11926200	Enhancers	Skeletal Muscle Male	skeletal muscle

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