Variant report

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10044837	0.94[ASN][1000 genomes]
rs10055285	0.98[ASN][1000 genomes]
rs10057766	0.97[ASN][1000 genomes]
rs10060023	0.92[ASN][1000 genomes]
rs10079602	0.92[ASN][1000 genomes]
rs11241779	0.82[ASN][1000 genomes]
rs11951671	0.82[ASN][1000 genomes]
rs11958289	0.81[ASN][1000 genomes]
rs12109265	0.90[ASN][1000 genomes]
rs13158867	0.81[ASN][1000 genomes]
rs1374130	0.91[ASN][1000 genomes]
rs17152193	0.90[ASN][1000 genomes]
rs35862376	0.81[ASN][1000 genomes]
rs4240384	0.90[ASN][1000 genomes]
rs4240385	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4311414	0.90[ASN][1000 genomes]
rs4331894	0.90[ASN][1000 genomes]
rs4357030	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4540171	0.91[ASN][1000 genomes]
rs6861021	0.92[ASN][1000 genomes]
rs6861089	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6863192	0.90[ASN][1000 genomes]
rs6869863	0.80[ASN][1000 genomes]
rs6875187	0.90[ASN][1000 genomes]
rs6875763	0.90[ASN][1000 genomes]
rs6876036	0.91[ASN][1000 genomes]
rs6895658	0.80[ASN][1000 genomes]
rs6898265	0.82[CHB][hapmap]
rs7732618	0.90[ASN][1000 genomes]
rs9968605	0.90[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	nsv882822	chr5:124250018-124449375	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830474	chr5:124263628-124431299	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv599657	chr5:124284253-124330522	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6872411	ZNF608	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124300000-124311800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:124308600-124314400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr5:124308800-124311600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr5:124309400-124311000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:124309400-124311800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:124309600-124311600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:124310000-124313000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr5:124310000-124314600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:124310200-124311000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr5:124310400-124310800	Enhancers	Primary B cells from peripheral blood	blood
11	chr5:124310400-124315000	Weak transcription	Primary B cells from cord blood	blood

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