Variant report

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1022103	0.88[JPT][hapmap];0.90[ASN][1000 genomes]
rs1039865	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10873966	0.80[JPT][hapmap];0.94[ASN][1000 genomes]
rs11162417	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11162425	0.94[ASN][1000 genomes]
rs11162429	0.93[ASN][1000 genomes]
rs11579434	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12095545	0.94[ASN][1000 genomes]
rs12126871	0.83[EUR][1000 genomes]
rs12133075	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12184300	0.94[ASN][1000 genomes]
rs12758374	0.86[CEU][hapmap];0.88[JPT][hapmap];0.82[YRI][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1323094	0.93[ASN][1000 genomes]
rs1890850	0.93[ASN][1000 genomes]
rs2025612	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2025613	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2025614	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2146612	0.96[ASN][1000 genomes]
rs2208966	0.94[ASN][1000 genomes]
rs4650382	0.80[JPT][hapmap];0.88[ASN][1000 genomes]
rs4650619	0.83[ASN][1000 genomes]
rs4650620	0.80[JPT][hapmap];0.82[ASN][1000 genomes]
rs60588097	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs616518	0.93[ASN][1000 genomes]
rs638232	0.89[ASN][1000 genomes]
rs640124	0.93[ASN][1000 genomes]
rs653899	0.93[ASN][1000 genomes]
rs689374	0.93[ASN][1000 genomes]
rs7524877	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	nsv1013008	chr1:78463173-78958701	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv535012	chr1:78463173-78958701	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	esv1850497	chr1:78596312-78645701	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78584200-78630600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr1:78608800-78614600	Weak transcription	Psoas Muscle	Psoas
3	chr1:78609000-78618000	Weak transcription	Colonic Mucosa	Colon
4	chr1:78609200-78624600	Weak transcription	Pancreas	Pancrea
5	chr1:78609200-78624800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:78609400-78619000	Weak transcription	Fetal Intestine Small	intestine
7	chr1:78609600-78620800	Weak transcription	Fetal Intestine Large	intestine
8	chr1:78609800-78613400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr1:78609800-78614400	Weak transcription	Small Intestine	intestine
10	chr1:78610200-78613600	Weak transcription	HepG2	liver
11	chr1:78611000-78613000	Enhancers	Hela-S3	cervix
12	chr1:78611600-78631400	Weak transcription	Liver	Liver
13	chr1:78612200-78613000	Strong transcription	Duodenum Mucosa	Duodenum

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