Variant report

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr5:57937441-57937630	HepG2	liver:	n/a	n/a
2	REST	chr5:57937338-57937822	MCF-7	breast:	n/a	n/a
3	REST	chr5:57937367-57937860	ECC-1	luminal epithelium:	n/a	n/a
4	REST	chr5:57937485-57937667	A549	lung:	n/a	n/a
5	REST	chr5:57937397-57937679	SK-N-SH	brain:	n/a	n/a
6	REST	chr5:57937364-57937713	HepG2	liver:	n/a	n/a
7	REST	chr5:57937427-57937727	HL-60	blood:	n/a	n/a
8	REST	chr5:57937308-57937677	PFSK-1	brain:	n/a	n/a
9	REST	chr5:57937288-57937794	HL-60	blood:	n/a	n/a
10	REST	chr5:57937434-57937641	PFSK-1	brain:	n/a	n/a
11	REST	chr5:57937466-57937654	K562	blood:	n/a	n/a
12	REST	chr5:57937274-57937866	ECC-1	luminal epithelium:	n/a	n/a
13	REST	chr5:57937313-57937685	H1-hESC	embryonic stem cell:	n/a	n/a
14	REST	chr5:57937433-57937610	PFSK-1	brain:	n/a	n/a
15	REST	chr5:57937320-57937692	H1-hESC	embryonic stem cell:	n/a	n/a
16	REST	chr5:57937410-57937708	GM12878	blood:	n/a	n/a
17	REST	chr5:57937393-57937902	MCF-7	breast:	n/a	n/a
18	REST	chr5:57937336-57937693	Hela-S3	cervix:	n/a	n/a
19	REST	chr5:57937375-57937847	PFSK-1	brain:	n/a	n/a
20	TEAD4	chr5:57937326-57937728	A549	lung:	n/a	n/a
21	REST	chr5:57937366-57937741	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:57932028..57933873-chr5:57935161..57938695,3	K562	blood:

No data

Variant related genes	Relation type
RAB3C	TF binding region

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10060568	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1158196	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12054892	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12653046	1.00[CEU][hapmap];0.87[CHB][hapmap];0.80[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs159004	0.86[YRI][hapmap]
rs159007	0.86[YRI][hapmap]
rs16877131	0.96[CEU][hapmap];0.83[JPT][hapmap];0.82[EUR][1000 genomes]
rs1833611	1.00[CEU][hapmap];0.87[CHB][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2279980	1.00[CEU][hapmap];0.91[JPT][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58662773	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59064450	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6898044	1.00[CEU][hapmap];0.87[CHB][hapmap];0.87[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72760264	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7723730	0.93[EUR][1000 genomes]
rs9292170	0.96[YRI][hapmap];0.90[AFR][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	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1029145	chr5:57905821-58141221	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv830311	chr5:57912546-58105636	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57933600-57944000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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