Variant report

Variant	rs7593172
Chromosome Location	chr2:10832935-10832936
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10178212	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1038690	0.82[AFR][1000 genomes]
rs11684157	0.89[AFR][1000 genomes]
rs11691060	0.89[AFR][1000 genomes]
rs11695330	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1387566	0.91[AFR][1000 genomes]
rs1586622	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1586623	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17364547	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17364568	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2110775	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2357656	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4233884	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4233885	0.83[EUR][1000 genomes]
rs4586606	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4614910	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4669605	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4669606	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4669607	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58445061	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72777324	0.89[ASN][1000 genomes]
rs72777332	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72777335	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7595845	0.91[AFR][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	nsv1000953	chr2:10717304-10921805	Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv535584	chr2:10717304-10921805	Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv833381	chr2:10723465-10911284	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1000731	chr2:10758657-10943882	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 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	chr2:10830800-10834400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:10830800-10837200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:10831000-10834600	Weak transcription	Pancreas	Pancrea
4	chr2:10831000-10835000	Weak transcription	Fetal Intestine Large	intestine
5	chr2:10831000-10835000	Weak transcription	Fetal Intestine Small	intestine
6	chr2:10831200-10835400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:10831600-10835000	Weak transcription	HepG2	liver

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