Variant report

Variant	rs1442462
Chromosome Location	chr1:221377994-221377995
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10863594	0.87[EUR][1000 genomes]
rs11118662	0.82[ASN][1000 genomes]
rs11118663	0.86[ASN][1000 genomes]
rs11118664	0.84[ASN][1000 genomes]
rs12120171	0.89[ASN][1000 genomes]
rs12122167	0.89[ASN][1000 genomes]
rs12124230	0.89[ASN][1000 genomes]
rs12126632	0.89[ASN][1000 genomes]
rs12127195	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs12128432	0.91[ASN][1000 genomes]
rs12140672	0.80[ASN][1000 genomes]
rs1341619	0.86[ASN][1000 genomes]
rs1539140	0.86[ASN][1000 genomes]
rs17009529	0.80[ASN][1000 genomes]
rs17009652	0.96[ASN][1000 genomes]
rs2039956	0.80[ASN][1000 genomes]
rs4420085	0.80[ASN][1000 genomes]
rs4846339	0.81[ASN][1000 genomes]
rs4846687	0.91[ASN][1000 genomes]
rs4846690	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4846692	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4846694	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4846698	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs57489853	0.80[ASN][1000 genomes]
rs59098418	0.80[ASN][1000 genomes]
rs6679997	1.00[ASN][1000 genomes]
rs6686637	0.84[ASN][1000 genomes]
rs6687985	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs67635817	0.80[ASN][1000 genomes]
rs751251	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7522767	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7539794	0.86[ASN][1000 genomes]
rs7549116	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs874287	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs894362	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9431431	0.89[ASN][1000 genomes]
rs9431445	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9431454	0.83[EUR][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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv873199	chr1:221136672-221451217	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221376200-221378000	Enhancers	Colon Smooth Muscle	Colon
2	chr1:221376600-221378000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:221376600-221378000	Enhancers	Adipose Nuclei	Adipose
4	chr1:221377000-221378000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:221377000-221378000	Enhancers	Liver	Liver
6	chr1:221377000-221378000	Enhancers	Fetal Lung	lung
7	chr1:221377200-221378000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:221377400-221378000	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr1:221377600-221378000	Enhancers	Skeletal Muscle Female	skeletal muscle

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