Variant report

Variant	rs614490
Chromosome Location	chr12:30001757-30001758
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10843534	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10843545	0.82[AMR][1000 genomes]
rs11050518	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11050519	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11050525	0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11050526	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11050528	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11050536	0.82[AMR][1000 genomes]
rs11050537	0.82[AMR][1000 genomes]
rs12812577	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12813154	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12821746	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12828727	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs188549	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2200275	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2220131	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs302310	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs302313	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs302360	0.84[ASN][1000 genomes]
rs416697	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs444711	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132449	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7133117	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7136398	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73069892	0.99[ASN][1000 genomes]
rs73071610	0.97[ASN][1000 genomes]
rs73071623	0.92[ASN][1000 genomes]
rs7962909	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7979574	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv469191	chr12:29939628-30098770	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv557958	chr12:29939628-30098770	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv526146	chr12:29989292-30112823	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv557975	chr12:30000388-30022105	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29996200-30003000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:30001400-30001800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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