Variant report

Variant	rs61838099
Chromosome Location	chr1:222986122-222986123
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:222985776-222986143	HepG2	liver:	n/a	chr1:222985956-222985973 chr1:222985959-222985972 chr1:222985961-222985972 chr1:222985959-222985970 chr1:222985961-222985972

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:222980666..222982501-chr1:222985818..222988302,2	K562	blood:

Variant related genes	Relation type
DISP1	TF binding region
ENSG00000228106	TF binding region

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10495202	0.87[EUR][1000 genomes]
rs1132369	0.87[EUR][1000 genomes]
rs1132371	0.87[EUR][1000 genomes]
rs17475431	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17475753	0.87[EUR][1000 genomes]
rs17475774	0.87[EUR][1000 genomes]
rs17534704	0.87[EUR][1000 genomes]
rs17534774	0.84[EUR][1000 genomes]
rs17535004	0.87[EUR][1000 genomes]
rs17535032	0.85[EUR][1000 genomes]
rs17535137	0.87[EUR][1000 genomes]
rs28362013	0.84[ASN][1000 genomes]
rs34096996	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34139393	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34151467	0.87[EUR][1000 genomes]
rs34225287	0.87[EUR][1000 genomes]
rs34229647	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34277924	0.87[EUR][1000 genomes]
rs34299243	0.87[EUR][1000 genomes]
rs34300028	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34505570	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34690779	0.87[EUR][1000 genomes]
rs34713681	0.87[EUR][1000 genomes]
rs34755094	0.87[EUR][1000 genomes]
rs34761499	0.87[EUR][1000 genomes]
rs34791822	0.87[EUR][1000 genomes]
rs34804073	0.87[EUR][1000 genomes]
rs34893395	0.87[EUR][1000 genomes]
rs34898792	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34950986	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35131473	0.87[EUR][1000 genomes]
rs35197173	0.89[EUR][1000 genomes]
rs35270311	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35283922	0.87[EUR][1000 genomes]
rs35356885	0.87[EUR][1000 genomes]
rs35399857	0.87[EUR][1000 genomes]
rs35497286	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35591569	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35756512	0.87[EUR][1000 genomes]
rs35787799	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36032255	0.87[EUR][1000 genomes]
rs36066427	0.87[EUR][1000 genomes]
rs36083483	0.84[ASN][1000 genomes]
rs36090356	0.86[EUR][1000 genomes]
rs4609435	0.84[ASN][1000 genomes]
rs61838105	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61838107	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61838112	0.84[ASN][1000 genomes]
rs61838113	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61838114	0.84[ASN][1000 genomes]
rs61838115	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61838118	0.87[EUR][1000 genomes]
rs61838119	0.87[EUR][1000 genomes]
rs61839587	0.87[EUR][1000 genomes]
rs61839588	0.87[EUR][1000 genomes]
rs61839600	0.87[EUR][1000 genomes]
rs61839601	0.86[EUR][1000 genomes]
rs61839602	0.86[EUR][1000 genomes]
rs71644708	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv873206	chr1:222985197-223124916	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr1:222958800-222987800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:222983600-222987800	Enhancers	HepG2	liver
3	chr1:222984200-222987200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:222984600-222986600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:222985400-222987200	Weak transcription	Fetal Kidney	kidney
6	chr1:222985600-222986800	Weak transcription	Fetal Intestine Small	intestine
7	chr1:222985600-222987000	Weak transcription	Fetal Intestine Large	intestine

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