Variant report

Variant	rs5355
Chromosome Location	chr1:169695870-169695871
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12742961	1.00[JPT][hapmap]
rs2223286	0.85[JPT][hapmap]
rs2272819	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2272917	1.00[JPT][hapmap]
rs2272918	1.00[JPT][hapmap]
rs3917458	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3917460	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4987347	1.00[CEU][hapmap];0.81[TSI][hapmap];0.97[EUR][1000 genomes]
rs4987352	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs4987353	0.85[JPT][hapmap]
rs4987357	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4987361	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes]
rs4987364	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs4987367	0.85[JPT][hapmap]
rs4987369	0.85[JPT][hapmap]
rs4987373	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.90[TSI][hapmap];0.97[EUR][1000 genomes]
rs4987377	1.00[EUR][1000 genomes]
rs4987396	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4987397	1.00[CEU][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4987404	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56747461	0.93[EUR][1000 genomes]
rs60909528	0.97[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	nsv532586	chr1:169593222-169713184	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv3451367	chr1:169630075-169976964	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats 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	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169691600-169698400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:169691800-169698200	Weak transcription	Left Ventricle	heart
3	chr1:169694600-169696600	Flanking Active TSS	Liver	Liver
4	chr1:169695200-169696200	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr1:169695800-169696200	Enhancers	HepG2	liver
6	chr1:169695800-169696400	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr1:169695800-169696600	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr1:169695800-169697000	Enhancers	Stomach Mucosa	stomach

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