Variant report

Variant	rs516481
Chromosome Location	chr7:99470851-99470852
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:99470145..99472550-chr7:99473069..99474850,2	K562	blood:

Variant related genes	Relation type
ENSG00000244623	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10215184	1.00[ASN][1000 genomes]
rs10225908	1.00[ASN][1000 genomes]
rs10236386	1.00[ASN][1000 genomes]
rs10245581	1.00[ASN][1000 genomes]
rs10272125	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11505840	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11505841	1.00[ASN][1000 genomes]
rs11977827	1.00[ASN][1000 genomes]
rs11980179	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11981167	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17161997	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2082743	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28371764	1.00[ASN][1000 genomes]
rs28449324	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28988579	1.00[ASN][1000 genomes]
rs34096782	1.00[ASN][1000 genomes]
rs34288759	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34395561	1.00[ASN][1000 genomes]
rs34868357	1.00[ASN][1000 genomes]
rs34967184	1.00[ASN][1000 genomes]
rs35141942	1.00[ASN][1000 genomes]
rs35405904	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35649099	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs472667	1.00[ASN][1000 genomes]
rs480596	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs487813	1.00[ASN][1000 genomes]
rs501275	1.00[ASN][1000 genomes]
rs517284	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs523407	1.00[ASN][1000 genomes]
rs528144	1.00[ASN][1000 genomes]
rs545400	1.00[ASN][1000 genomes]
rs549061	1.00[ASN][1000 genomes]
rs558002	1.00[ASN][1000 genomes]
rs558112	1.00[ASN][1000 genomes]
rs559239	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs565079	1.00[ASN][1000 genomes]
rs568859	1.00[ASN][1000 genomes]
rs57256111	1.00[ASN][1000 genomes]
rs57772941	1.00[ASN][1000 genomes]
rs579424	1.00[ASN][1000 genomes]
rs580123	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs583353	1.00[ASN][1000 genomes]
rs585071	1.00[ASN][1000 genomes]
rs599151	1.00[ASN][1000 genomes]
rs613963	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs620020	1.00[ASN][1000 genomes]
rs641761	1.00[ASN][1000 genomes]
rs642761	1.00[ASN][1000 genomes]
rs646563	1.00[ASN][1000 genomes]
rs648515	1.00[ASN][1000 genomes]
rs660629	1.00[ASN][1000 genomes]
rs663476	1.00[ASN][1000 genomes]
rs663493	1.00[ASN][1000 genomes]
rs663495	1.00[ASN][1000 genomes]
rs66629054	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs667660	1.00[ASN][1000 genomes]
rs66953435	1.00[ASN][1000 genomes]
rs671673	1.00[ASN][1000 genomes]
rs675644	1.00[ASN][1000 genomes]
rs678040	1.00[ASN][1000 genomes]
rs679320	1.00[ASN][1000 genomes]
rs680055	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs687134	1.00[ASN][1000 genomes]
rs688926	1.00[ASN][1000 genomes]
rs694924	1.00[ASN][1000 genomes]
rs694939	1.00[ASN][1000 genomes]
rs6957718	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6960775	1.00[ASN][1000 genomes]
rs7787525	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7798789	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs800666	1.00[ASN][1000 genomes]
rs800667	1.00[ASN][1000 genomes]
rs800673	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	esv1829865	chr7:99430678-99755141	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
2	esv1830649	chr7:99430678-99755141	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
3	esv1792388	chr7:99468155-99497338	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	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	chr7:99458200-99489600	Weak transcription	Pancreas	Pancrea
2	chr7:99465200-99475400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:99468400-99487200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr7:99470000-99489600	Weak transcription	Gastric	stomach
5	chr7:99470400-99486800	Weak transcription	Primary T cells from cord blood	blood
6	chr7:99470400-99487000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:99470600-99474000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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