Variant report

Variant	rs72979226
Chromosome Location	chr1:76302222-76302223
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11161699	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11164042	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11578480	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11579752	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11584577	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11588643	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11810154	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12118229	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12118306	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12130832	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12138018	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12142247	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12145870	0.80[EUR][1000 genomes]
rs1498311	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17647178	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17647711	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17848068	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2029682	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4403585	0.82[ASN][1000 genomes]
rs4646960	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5745325	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5745331	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5745347	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5745383	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5745430	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60550898	0.88[ASN][1000 genomes]
rs6656501	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6664254	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6675212	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6704444	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs721204	1.00[ASN][1000 genomes]
rs74090722	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs74090730	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519329	chr1:75830438-76358591	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1014072	chr1:76200531-76460726	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv535005	chr1:76200531-76460726	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv1795237	chr1:76268573-76383565	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv1800125	chr1:76269439-76379497	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv1799260	chr1:76269439-76383297	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv1847721	chr1:76269439-76383565	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1004669	chr1:76301198-76409451	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr1:76295800-76307800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr1:76300800-76304600	Weak transcription	Psoas Muscle	Psoas
3	chr1:76301600-76303000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr1:76301600-76304600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:76301800-76303000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:76302000-76303200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr1:76302200-76302800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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