Variant report

Variant	rs502997
Chromosome Location	chr1:47946305-47946306
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10158498	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10158499	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10749868	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10890483	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10890484	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10890485	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1337527	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1337528	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1415541	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1572547	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1572548	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2065946	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2065947	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2065948	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs498352	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs512014	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs513464	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs517384	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs518025	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs570605	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs578633	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs663650	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6693428	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7517146	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7528714	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7537527	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7540974	0.82[AMR][1000 genomes]
rs7543774	0.88[EUR][1000 genomes]
rs7544826	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7547288	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7552647	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7555100	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[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	nsv1001779	chr1:47884229-48111485	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv871299	chr1:47889417-48057890	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	esv2755190	chr1:47907580-48048680	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47934400-47950600	Weak transcription	Right Atrium	heart
2	chr1:47942000-47946800	Enhancers	Liver	Liver
3	chr1:47944000-47948400	Weak transcription	Lung	lung
4	chr1:47944200-47946800	Enhancers	Stomach Mucosa	stomach
5	chr1:47944400-47948600	Weak transcription	Adipose Nuclei	Adipose
6	chr1:47944600-47947800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:47945600-47947200	Weak transcription	Colonic Mucosa	Colon
8	chr1:47945800-47948000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr1:47946000-47946800	Weak transcription	A549	lung

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