Variant report

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr19:51980538-51981061	PFSK-1	brain:	n/a	n/a
2	ATF1	chr19:51980645-51980980	K562	blood:	n/a	n/a
3	REST	chr19:51980726-51981067	ECC-1	luminal epithelium:	n/a	n/a
4	REST	chr19:51980634-51981088	HL-60	blood:	n/a	n/a
5	REST	chr19:51980589-51981061	ECC-1	luminal epithelium:	n/a	n/a
6	JUN	chr19:51980671-51980953	HepG2	liver:	n/a	chr19:51980793-51980806
7	REST	chr19:51980440-51981211	HL-60	blood:	n/a	n/a
8	JUND	chr19:51980645-51980961	HepG2	liver:	n/a	n/a
9	JUND	chr19:51980620-51980976	K562	blood:	n/a	n/a
10	POLR2A	chr19:51980291-51984365	K562	blood:	n/a	n/a
11	REST	chr19:51980607-51981204	K562	blood:	n/a	n/a
12	REST	chr19:51980582-51981009	PFSK-1	brain:	n/a	n/a
13	REST	chr19:51980618-51980989	MCF-7	breast:	n/a	n/a
14	REST	chr19:51980704-51980968	Hela-S3	cervix:	n/a	n/a
15	REST	chr19:51980648-51980961	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:51971316..51973681-chr19:51979133..51981319,3	K562	blood:

No data

Variant related genes	Relation type
CEACAM18	TF binding region
ENSG00000268957	Chromatin interaction

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10411438	0.94[EUR][1000 genomes]
rs10413469	0.92[EUR][1000 genomes]
rs12327789	0.94[EUR][1000 genomes]
rs12327792	0.94[EUR][1000 genomes]
rs12327796	0.94[EUR][1000 genomes]
rs12327808	0.94[EUR][1000 genomes]
rs4267441	0.94[EUR][1000 genomes]
rs55731985	1.00[ASN][1000 genomes]
rs62115064	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62115078	0.88[EUR][1000 genomes]
rs62115079	0.92[EUR][1000 genomes]
rs62115080	0.94[EUR][1000 genomes]
rs62115081	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62116163	0.94[EUR][1000 genomes]
rs62116166	1.00[ASN][1000 genomes]
rs62116174	1.00[ASN][1000 genomes]
rs62116361	1.00[ASN][1000 genomes]
rs62116364	1.00[ASN][1000 genomes]
rs62116365	1.00[ASN][1000 genomes]
rs62116366	1.00[ASN][1000 genomes]
rs62116367	1.00[ASN][1000 genomes]
rs62116368	1.00[ASN][1000 genomes]
rs726763	0.94[EUR][1000 genomes]
rs73067310	1.00[ASN][1000 genomes]
rs73067312	1.00[ASN][1000 genomes]
rs73067320	1.00[ASN][1000 genomes]
rs73067322	1.00[ASN][1000 genomes]
rs73067324	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066308	chr19:51680133-52103974	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv544049	chr19:51680133-52103974	Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	nsv544051	chr19:51944903-52147459	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51975800-51981600	Enhancers	Fetal Intestine Small	intestine
2	chr19:51975800-51981800	Enhancers	Fetal Intestine Large	intestine
3	chr19:51978400-51981400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr19:51979200-51982000	Weak transcription	HepG2	liver
5	chr19:51979600-51981800	Weak transcription	Stomach Mucosa	stomach
6	chr19:51980400-51982600	Enhancers	K562	blood
7	chr19:51980600-51981000	Enhancers	Primary neutrophils fromperipheralblood	blood

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