Variant report

Variant	rs3917819
Chromosome Location	chr1:169564889-169564890
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr1:169564889-169565436	PANC-1	pancreas:	n/a	n/a
2	REST	chr1:169564814-169565593	ECC-1	luminal epithelium:	n/a	n/a
3	REST	chr1:169564719-169565709	MCF-7	breast:	n/a	n/a
4	SIN3AK20	chr1:169564856-169565584	MCF-7	breast:	n/a	n/a
5	REST	chr1:169564807-169565554	GM12878	blood:	n/a	n/a
6	REST	chr1:169564788-169565665	ECC-1	luminal epithelium:	n/a	n/a
7	REST	chr1:169564855-169565531	HL-60	blood:	n/a	n/a
8	REST	chr1:169564521-169565730	HL-60	blood:	n/a	n/a
9	REST	chr1:169564884-169565556	A549	lung:	n/a	n/a
10	REST	chr1:169564793-169565487	MCF-7	breast:	n/a	n/a
11	REST	chr1:169564889-169565434	Hela-S3	cervix:	n/a	n/a
12	REST	chr1:169564867-169565557	HCT-116	colon:	n/a	n/a
13	REST	chr1:169564827-169565497	HepG2	liver:	n/a	n/a
14	REST	chr1:169564883-169565440	SK-N-SH	brain:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:169562439..169565344-chr1:169568413..169571209,3	K562	blood:
2	chr1:169564132..169566509-chr1:169578988..169581892,2	K562	blood:

No data

Variant related genes	Relation type
SELP	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12129457	1.00[ASN][1000 genomes]
rs1569471	0.83[ASW][hapmap];1.00[CHB][hapmap];0.89[LWK][hapmap];0.87[MKK][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes]
rs3917771	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3917779	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3917792	0.93[AFR][1000 genomes]
rs3917795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3917797	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3917802	0.96[AFR][1000 genomes]
rs3917803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3917806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3917811	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3917820	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3917824	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.98[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3917862	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6132	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6133	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.98[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6135	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs742125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs742126	0.96[AFR][1000 genomes]
rs9287095	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9332579	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer 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	56 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	chr1:169558800-169570000	Weak transcription	Primary T cells from cord blood	blood
2	chr1:169559200-169570400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:169561600-169565000	Weak transcription	Liver	Liver
4	chr1:169564000-169570200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr1:169564200-169565200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:169564200-169565200	Enhancers	GM12878-XiMat	blood
7	chr1:169564400-169569800	Weak transcription	Primary T helper cells PMA-I stimulated	--

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