Variant report

Variant	rs4554431
Chromosome Location	chr8:10771638-10771639
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10770919..10772954-chr8:10785860..10787582,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10107145	0.80[AMR][1000 genomes]
rs10903332	0.93[ASN][1000 genomes]
rs10903333	0.93[ASN][1000 genomes]
rs11250086	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11776368	1.00[ASN][1000 genomes]
rs11777034	0.81[ASN][1000 genomes]
rs11780501	0.81[ASN][1000 genomes]
rs11986699	0.87[ASN][1000 genomes]
rs11990550	0.93[ASN][1000 genomes]
rs11993591	0.87[ASN][1000 genomes]
rs12548184	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13270870	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17778581	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34497451	0.93[ASN][1000 genomes]
rs34741518	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4240671	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4240672	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4256557	0.87[ASN][1000 genomes]
rs4326350	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4520127	0.93[ASN][1000 genomes]
rs4840525	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4841457	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4841458	1.00[ASN][1000 genomes]
rs4841461	0.87[ASN][1000 genomes]
rs6988281	0.81[ASN][1000 genomes]
rs6992103	1.00[ASN][1000 genomes]
rs6997839	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6997997	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7015168	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7016385	0.83[ASN][1000 genomes]
rs7814762	0.87[ASN][1000 genomes]
rs7821826	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7823296	0.83[ASN][1000 genomes]
rs7834121	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7834248	0.85[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs7837038	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7843470	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7843666	0.86[AMR][1000 genomes];0.86[EUR][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	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1017836	chr8:10591801-10803617	Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1034988	chr8:10591801-10804243	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv831232	chr8:10606053-10774948	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1025190	chr8:10756331-10802566	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4554431	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10762400-10778800	Weak transcription	Brain Angular Gyrus	brain
2	chr8:10765800-10778400	Weak transcription	Pancreas	Pancrea
3	chr8:10770800-10772600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:10771000-10771800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:10771400-10772800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:10771600-10771800	Bivalent Enhancer	Placenta	Placenta

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