Variant report

Variant	rs13389912
Chromosome Location	chr2:73110372-73110373
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr2:73110306-73111082	GM12878	blood:	n/a	chr2:73110659-73110668
2	REST	chr2:73110189-73111200	PANC-1	pancreas:	n/a	chr2:73110659-73110668
3	REST	chr2:73110186-73111219	PFSK-1	brain:	n/a	chr2:73110659-73110668
4	REST	chr2:73110023-73111043	SK-N-SH	brain:	n/a	chr2:73110659-73110668
5	REST	chr2:73110055-73111191	PANC-1	pancreas:	n/a	chr2:73110659-73110668
6	REST	chr2:73110104-73111249	ECC-1	luminal epithelium:	n/a	chr2:73110659-73110668
7	TEAD4	chr2:73110364-73111016	A549	lung:	n/a	n/a
8	REST	chr2:73110190-73111129	HepG2	liver:	n/a	chr2:73110659-73110668
9	REST	chr2:73110192-73111165	HCT-116	colon:	n/a	chr2:73110659-73110668
10	REST	chr2:73110062-73111573	A549	lung:	n/a	chr2:73110659-73110668
11	REST	chr2:73110255-73111203	HepG2	liver:	n/a	chr2:73110659-73110668
12	REST	chr2:73110329-73111010	A549	lung:	n/a	chr2:73110659-73110668
13	REST	chr2:73110247-73111159	MCF-7	breast:	n/a	chr2:73110659-73110668
14	REST	chr2:73110175-73111177	Hela-S3	cervix:	n/a	chr2:73110659-73110668
15	REST	chr2:73110293-73111037	HCT-116	colon:	n/a	chr2:73110659-73110668
16	REST	chr2:73110287-73111139	HL-60	blood:	n/a	chr2:73110659-73110668
17	REST	chr2:73110093-73111211	ECC-1	luminal epithelium:	n/a	chr2:73110659-73110668
18	REST	chr2:73110278-73111082	H1-neurons	neurons:	n/a	chr2:73110659-73110668
19	REST	chr2:73110038-73111641	HL-60	blood:	n/a	chr2:73110659-73110668
20	REST	chr2:73110103-73111176	PFSK-1	brain:	n/a	chr2:73110659-73110668
21	REST	chr2:73110162-73110940	PANC-1	pancreas:	n/a	chr2:73110659-73110668
22	REST	chr2:73110210-73111135	K562	blood:	n/a	chr2:73110659-73110668
23	REST	chr2:73110124-73111221	MCF-7	breast:	n/a	chr2:73110659-73110668

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:73102660..73104249-chr2:73108868..73110931,2	K562	blood:

Variant related genes	Relation type
SPR	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10190863	0.92[AFR][1000 genomes]
rs58191123	0.83[AFR][1000 genomes];1.00[AMR][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	nsv834259	chr2:72941118-73114106	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv532723	chr2:73088191-73219259	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 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	chr2:73110200-73110400	Enhancers	Placenta Amnion	Placenta Amnion

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