Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr5:90646998-90647334	SK-N-SH	brain:	n/a	n/a
2	EP300	chr5:90645599-90648246	SK-N-SH	brain:	n/a	chr5:90646953-90646962
3	REST	chr5:90647054-90647335	Hela-S3	cervix:	n/a	n/a
4	REST	chr5:90647068-90647221	H1-hESC	embryonic stem cell:	n/a	n/a
5	REST	chr5:90647059-90647265	SK-N-SH	brain:	n/a	n/a
6	REST	chr5:90647070-90647201	Hela-S3	cervix:	n/a	n/a
7	REST	chr5:90646965-90647358	A549	lung:	n/a	n/a
8	FOXA2	chr5:90646938-90647279	A549	lung:	n/a	n/a
9	REST	chr5:90647095-90647189	HepG2	liver:	n/a	n/a
10	EP300	chr5:90647015-90647409	SK-N-SH_RA	brain:	n/a	n/a
11	FOXA1	chr5:90647053-90647237	ECC-1	luminal epithelium:	n/a	n/a
12	EP300	chr5:90647027-90647419	SK-N-SH_RA	brain:	n/a	n/a
13	REST	chr5:90647046-90647258	SK-N-SH	brain:	n/a	n/a
14	REST	chr5:90647000-90647315	HepG2	liver:	n/a	n/a
15	FOXA2	chr5:90647042-90647367	A549	lung:	n/a	n/a
16	REST	chr5:90646988-90647329	MCF-7	breast:	n/a	n/a
17	REST	chr5:90647003-90647323	PFSK-1	brain:	n/a	n/a
18	SPI1	chr5:90646789-90647137	HL-60	blood:	n/a	chr5:90646952-90646965
19	REST	chr5:90647085-90647208	PFSK-1	brain:	n/a	n/a
20	REST	chr5:90646962-90647339	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:90646036..90648678-chr5:90674406..90676752,2	MCF-7	breast:
2	chr5:90645627..90648017-chr5:90677157..90680043,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10942629	0.82[EUR][1000 genomes]
rs11950828	0.81[EUR][1000 genomes]
rs2063461	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4916713	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4916860	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs57318317	0.83[EUR][1000 genomes]
rs60716916	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62373948	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6873839	0.80[EUR][1000 genomes]
rs6886011	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024813	chr5:90321535-90870739	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv537806	chr5:90321535-90870739	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90645000-90647600	Enhancers	Fetal Thymus	thymus
2	chr5:90646400-90663800	Weak transcription	Thymus	Thymus
3	chr5:90646600-90647400	Bivalent Enhancer	NH-A	brain
4	chr5:90646800-90647200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:90647000-90647400	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr5:90647000-90647800	Enhancers	Hela-S3	cervix

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