Variant report

Variant	rs4841457
Chromosome Location	chr8:10773511-10773512
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:10712367..10714043-chr8:10772145..10774622,2	K562	blood:
2	chr8:10772875..10774544-chr8:10783945..10785619,2	K562	blood:
3	chr8:10772740..10774724-chr8:10885497..10887029,2	K562	blood:
4	chr8:10772724..10774931-chr8:11141877..11143411,2	K562	blood:

Variant related genes	Relation type
ENSG00000104643	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10090444	0.85[EUR][1000 genomes]
rs10107145	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11250086	0.83[AMR][1000 genomes]
rs11250092	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11250093	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11250094	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11776368	0.83[ASN][1000 genomes]
rs11777007	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11783749	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12542037	0.84[EUR][1000 genomes]
rs13270870	0.82[AMR][1000 genomes]
rs34741518	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4073948	0.93[EUR][1000 genomes]
rs4240671	0.80[AMR][1000 genomes]
rs4240672	0.80[AMR][1000 genomes]
rs4554431	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4841458	0.83[ASN][1000 genomes]
rs6984496	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6985109	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6992103	0.83[ASN][1000 genomes]
rs7005884	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7015168	0.83[ASN][1000 genomes]
rs7016385	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7821826	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7823296	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7833435	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7834121	0.80[AMR][1000 genomes]
rs7837038	0.83[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	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4841457	C8orf5	Cis_1M	lymphoblastoid	RTeQTL
rs4841457	BLK	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:3 , 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	chr8:10773400-10774200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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