Variant report

Variant	rs4796920
Chromosome Location	chr18:11322867-11322868
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr18:11322780-11322930	GM12868	blood:	n/a	n/a
2	CTCF	chr18:11322760-11322910	MCF-7	breast:	n/a	n/a
3	CTCF	chr18:11322760-11322910	GM12868	blood:	n/a	n/a
4	CTCF	chr18:11322740-11322890	AG04450	lung:	n/a	n/a
5	CTCF	chr18:11322740-11322890	MCF-7	breast:	n/a	n/a
6	CTCF	chr18:11322840-11322990	GM12873	blood:	n/a	n/a
7	RAD21	chr18:11322776-11323056	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr18:11322760-11322910	GM12864	blood:	n/a	n/a
9	CTCF	chr18:11322800-11322950	HCFaa	heart:	n/a	n/a
10	ZNF143	chr18:11322808-11323022	H1-hESC	embryonic stem cell:	n/a	n/a
11	RAD21	chr18:11322728-11323075	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr18:11322840-11322990	GM12865	blood:	n/a	n/a
13	CTCF	chr18:11322740-11322890	GM12864	blood:	n/a	n/a
14	CTCF	chr18:11322800-11322950	GM06990	blood:	n/a	n/a
15	CTCF	chr18:11322760-11322910	GM12866	blood:	n/a	n/a
16	CTCF	chr18:11322780-11322930	HRPEpiC	eye:	n/a	n/a
17	CTCF	chr18:11322760-11322910	NHDF-neo	bronchial:	n/a	n/a
18	CTCF	chr18:11322729-11323038	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr18:11322718-11322974	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr18:11322760-11322910	HCT-116	colon:	n/a	n/a
21	CTCF	chr18:11322800-11322950	AG04449	skin:	n/a	n/a
22	CTCF	chr18:11322800-11322950	GM12874	blood:	n/a	n/a
23	CTCF	chr18:11322720-11322870	NB4	blood:	n/a	n/a
24	CTCF	chr18:11322840-11322990	WERI-Rb-1	eye:	n/a	n/a
25	RAD21	chr18:11322734-11323080	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr18:11322800-11322950	HEK293	kidney:	n/a	n/a
27	CTCF	chr18:11322780-11322930	HCPEpiC	choroid plexus:	n/a	n/a
28	CTCF	chr18:11322840-11322990	GM12864	blood:	n/a	n/a
29	CTCF	chr18:11322800-11322974	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr18:11322760-11322910	GM12873	blood:	n/a	n/a
31	CTCF	chr18:11322840-11322990	HCPEpiC	choroid plexus:	n/a	n/a
32	CTCF	chr18:11322720-11322870	GM12867	blood:	n/a	n/a
33	CTCF	chr18:11322860-11323010	GM12874	blood:	n/a	n/a
34	CTCF	chr18:11322760-11322910	GM12865	blood:	n/a	n/a
35	CTCF	chr18:11322820-11322970	HBMEC	blood vessel:	n/a	n/a
36	CTCF	chr18:11322840-11322990	HCT-116	colon:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000263682	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs16976089	0.93[ASN][1000 genomes]
rs376865	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs394655	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs397147	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs405515	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs455369	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs455662	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs455675	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs456908	0.81[EUR][1000 genomes]
rs457112	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs457234	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs457478	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs457626	0.81[EUR][1000 genomes]
rs457630	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs457914	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs458813	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs459329	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs459799	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs460297	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs462136	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs464224	0.81[AMR][1000 genomes]
rs464439	0.81[EUR][1000 genomes]
rs464979	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs466179	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs466320	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs466890	0.81[EUR][1000 genomes]
rs467394	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4796919	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73402962	0.96[ASN][1000 genomes]
rs98452	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458029	chr18:10814334-11662151	Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv576480	chr18:10814334-11662151	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1066659	chr18:11246502-11709409	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
4	nsv1057976	chr18:11251898-11664914	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
5	nsv543650	chr18:11251898-11664914	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
6	nsv833589	chr18:11293101-11454521	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11318800-11323400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr18:11320200-11325600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr18:11320200-11328200	Enhancers	NHDF-Ad	bronchial
4	chr18:11320400-11324800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr18:11320400-11325000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr18:11320400-11327000	Enhancers	NH-A	brain
7	chr18:11320800-11325000	Enhancers	Osteobl	bone
8	chr18:11321000-11327400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr18:11321200-11327000	Weak transcription	Fetal Muscle Leg	muscle
10	chr18:11321400-11323000	Weak transcription	HSMMtube	muscle
11	chr18:11321600-11325800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr18:11321800-11323000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr18:11321800-11323200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr18:11321800-11323400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr18:11321800-11325200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr18:11321800-11325200	Weak transcription	Fetal Thymus	thymus
17	chr18:11322000-11323200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr18:11322200-11323000	Weak transcription	HSMM	muscle
19	chr18:11322400-11325000	Weak transcription	Dnd41	blood
20	chr18:11322600-11323000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr18:11322800-11323000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr18:11322800-11323200	Enhancers	Hela-S3	cervix
23	chr18:11322800-11323400	Enhancers	A549	lung
24	chr18:11322800-11323800	Enhancers	Fetal Muscle Trunk	muscle
25	chr18:11322800-11324000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr18:11322800-11324800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr18:11322800-11327800	Enhancers	NHLF	lung

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