Variant report

Variant	rs12501288
Chromosome Location	chr4:22683681-22683682
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11939160	0.94[EUR][1000 genomes]
rs12500024	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12501513	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12506103	0.85[CHB][hapmap]
rs12508070	0.85[CHB][hapmap]
rs12512285	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12640382	0.92[EUR][1000 genomes]
rs1485829	0.85[CHB][hapmap]
rs16872876	0.92[EUR][1000 genomes]
rs16872878	0.94[EUR][1000 genomes]
rs1843486	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35819520	0.81[EUR][1000 genomes]
rs60749274	0.92[EUR][1000 genomes]
rs6448174	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6448175	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6832682	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6833215	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6856346	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73801118	0.94[EUR][1000 genomes]
rs73801147	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73801148	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73801149	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73801150	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73801151	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7655837	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7656016	0.92[EUR][1000 genomes]
rs7657828	0.85[CHB][hapmap]
rs7657970	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7658624	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7679304	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7689638	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7695833	0.85[CHB][hapmap]
rs7696375	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9884549	0.85[CHB][hapmap]

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	esv3349061	chr4:22379581-22887563	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv821634	chr4:22427074-22865948	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv829883	chr4:22666326-22842517	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22678600-22687000	Weak transcription	Thymus	Thymus
2	chr4:22678800-22687200	Weak transcription	Fetal Thymus	thymus
3	chr4:22682000-22683800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:22682000-22684600	Weak transcription	Fetal Intestine Large	intestine
5	chr4:22682200-22684800	Weak transcription	Fetal Intestine Small	intestine
6	chr4:22682200-22686600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr4:22682200-22687000	Weak transcription	Fetal Muscle Leg	muscle
8	chr4:22682200-22687200	Weak transcription	HSMM	muscle
9	chr4:22682200-22694600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr4:22682400-22692200	Weak transcription	Liver	Liver
11	chr4:22682600-22683800	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr4:22682600-22689400	Weak transcription	Primary T cells from cord blood	blood
13	chr4:22682600-22691000	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr4:22682800-22686800	Weak transcription	HSMMtube	muscle
15	chr4:22683200-22684200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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