Variant report

Variant	rs1194272
Chromosome Location	chr1:72698655-72698656
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10889943	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1194266	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1194268	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1194274	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1194279	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1194280	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1194285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1211567	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1211923	1.00[EUR][1000 genomes]
rs1675351	1.00[EUR][1000 genomes]
rs1675353	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1675354	1.00[EUR][1000 genomes]
rs1675355	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1776015	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2630393	0.84[EUR][1000 genomes]
rs2630396	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2630426	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2630427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2630428	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2630429	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2630430	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2630432	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2630433	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2630436	0.89[EUR][1000 genomes]
rs2630437	0.89[EUR][1000 genomes]
rs2821237	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2821238	0.89[EUR][1000 genomes]
rs2821241	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2821243	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2821245	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2821249	0.84[EUR][1000 genomes]
rs2821283	1.00[EUR][1000 genomes]
rs2821284	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2821287	1.00[EUR][1000 genomes]
rs2821289	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2821290	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2821291	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2821299	1.00[EUR][1000 genomes]
rs2821300	1.00[EUR][1000 genomes]
rs4344270	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56256157	0.89[EUR][1000 genomes]
rs72680874	0.89[EUR][1000 genomes]
rs72680879	0.89[EUR][1000 genomes]
rs9425076	1.00[EUR][1000 genomes]
rs9425080	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	nsv461939	chr1:72555489-72717743	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv546482	chr1:72555489-72717743	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1013250	chr1:72603540-72762582	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv830192	chr1:72616562-72806118	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv461951	chr1:72634912-72707226	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	n/a	n/a	inside rSNPs	diseases
11	nsv546485	chr1:72634912-72707226	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	n/a	n/a	inside rSNPs	diseases
12	nsv1014832	chr1:72642420-72823477	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	nsv534997	chr1:72642420-72823477	Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
14	nsv546486	chr1:72654730-72729142	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72692200-72698800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:72697200-72701600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:72698200-72698800	Enhancers	Colon Smooth Muscle	Colon
4	chr1:72698200-72698800	Enhancers	Duodenum Smooth Muscle	Duodenum
5	chr1:72698200-72698800	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr1:72698200-72700600	Enhancers	HepG2	liver

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