Variant report

Variant	rs72680874
Chromosome Location	chr1:72532536-72532537
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10889943	0.89[EUR][1000 genomes]
rs1194266	0.89[EUR][1000 genomes]
rs1194268	0.89[EUR][1000 genomes]
rs1194272	0.89[EUR][1000 genomes]
rs1194274	0.81[EUR][1000 genomes]
rs1194279	0.89[EUR][1000 genomes]
rs1194280	0.85[EUR][1000 genomes]
rs1194285	0.89[EUR][1000 genomes]
rs1211567	0.89[EUR][1000 genomes]
rs1211923	0.89[EUR][1000 genomes]
rs1675351	0.89[EUR][1000 genomes]
rs1675353	0.89[EUR][1000 genomes]
rs1675354	0.89[EUR][1000 genomes]
rs1675355	0.89[EUR][1000 genomes]
rs1776015	0.89[EUR][1000 genomes]
rs2630393	0.94[EUR][1000 genomes]
rs2630396	0.89[EUR][1000 genomes]
rs2630426	0.89[EUR][1000 genomes]
rs2630427	0.89[EUR][1000 genomes]
rs2630428	0.89[EUR][1000 genomes]
rs2630429	0.89[EUR][1000 genomes]
rs2630430	0.89[EUR][1000 genomes]
rs2630432	0.89[EUR][1000 genomes]
rs2630433	0.89[EUR][1000 genomes]
rs2630436	0.89[EUR][1000 genomes]
rs2630437	0.89[EUR][1000 genomes]
rs2821237	0.89[EUR][1000 genomes]
rs2821238	0.89[EUR][1000 genomes]
rs2821241	0.89[EUR][1000 genomes]
rs2821243	0.89[EUR][1000 genomes]
rs2821245	0.94[EUR][1000 genomes]
rs2821249	0.94[EUR][1000 genomes]
rs2821283	0.89[EUR][1000 genomes]
rs2821284	0.89[EUR][1000 genomes]
rs2821287	0.89[EUR][1000 genomes]
rs2821289	0.89[EUR][1000 genomes]
rs2821290	0.89[EUR][1000 genomes]
rs2821291	0.89[EUR][1000 genomes]
rs2821299	0.89[EUR][1000 genomes]
rs2821300	0.89[EUR][1000 genomes]
rs4344270	0.89[EUR][1000 genomes]
rs56256157	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72680879	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425076	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9425080	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817447	chr1:72098815-72558020	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv916783	chr1:72196061-72707953	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1007910	chr1:72247302-72543998	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1007073	chr1:72419858-72734657	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1006076	chr1:72477436-72700903	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv534996	chr1:72477436-72700903	Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv428454	chr1:72504469-72926256	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv546479	chr1:72509490-72555807	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv2763318	chr1:72515717-72543691	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72531800-72532600	Enhancers	Rectal Smooth Muscle	rectum
2	chr1:72532000-72532800	Enhancers	Colon Smooth Muscle	Colon
3	chr1:72532200-72532600	Enhancers	Left Ventricle	heart
4	chr1:72532200-72532800	Enhancers	Stomach Smooth Muscle	stomach
5	chr1:72532400-72532800	Enhancers	Duodenum Smooth Muscle	Duodenum

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