Variant report

Variant	rs282020
Chromosome Location	chr1:91854963-91854964
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10493845	0.86[ASN][1000 genomes]
rs10801862	0.86[ASN][1000 genomes]
rs10923007	0.86[ASN][1000 genomes]
rs10923010	0.86[ASN][1000 genomes]
rs1158436	0.84[ASN][1000 genomes]
rs12093493	0.85[ASN][1000 genomes]
rs12562636	0.81[ASN][1000 genomes]
rs12564233	0.94[ASN][1000 genomes]
rs12566254	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12566743	1.00[ASN][1000 genomes]
rs12568445	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12568483	0.88[ASN][1000 genomes]
rs17131417	0.99[ASN][1000 genomes]
rs17131419	0.81[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs182218	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1823868	0.88[ASN][1000 genomes]
rs192519	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs281935	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs281979	0.86[ASN][1000 genomes]
rs281992	0.86[ASN][1000 genomes]
rs281996	0.85[ASN][1000 genomes]
rs281998	0.86[ASN][1000 genomes]
rs282014	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs282050	0.87[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs282053	0.93[ASN][1000 genomes]
rs34390075	0.91[ASN][1000 genomes]
rs4084488	0.99[ASN][1000 genomes]
rs4509624	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4658212	0.88[ASN][1000 genomes]
rs4658217	0.88[AMR][1000 genomes]
rs4658219	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4658220	1.00[ASN][1000 genomes]
rs4658221	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4658222	0.93[ASN][1000 genomes]
rs56738625	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs58424833	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs59078007	1.00[ASN][1000 genomes]
rs72726276	0.81[ASN][1000 genomes]
rs72970318	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs72970328	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs72970335	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs72970337	0.94[ASN][1000 genomes]
rs7513687	0.88[ASN][1000 genomes]
rs7521314	0.86[ASN][1000 genomes]
rs876761	0.88[ASN][1000 genomes]
rs9324372	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs988203	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949516	chr1:91644418-92109261	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv1796351	chr1:91722083-91872374	Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv546806	chr1:91780408-91875505	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs282020	HFM1	cis	Nerve Tibial	GTEx
rs282020	HFM1	cis	Artery Tibial	GTEx
rs282020	HFM1	cis	Artery Aorta	GTEx

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:91853200-91855600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:91853200-91856400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:91853200-91857000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:91853200-91857600	Weak transcription	Ovary	ovary
5	chr1:91853200-91859800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:91853200-91866800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:91853200-91869200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr1:91853200-91869200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr1:91853200-91869400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:91853200-91869600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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