Variant report

Variant	rs10481454
Chromosome Location	chr8:11109303-11109304
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11084951..11086615-chr8:11108350..11109872,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1047950	1.00[CHB][hapmap]
rs10481445	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11250130	0.80[CEU][hapmap]
rs11250131	1.00[CHB][hapmap]
rs11774569	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs11781637	0.80[CEU][hapmap]
rs11784572	1.00[CHB][hapmap]
rs13260727	1.00[CHB][hapmap]
rs1435277	1.00[CHB][hapmap]
rs1435282	1.00[CHB][hapmap]
rs1560971	1.00[CHB][hapmap]
rs2246606	1.00[CHB][hapmap]
rs2249804	0.80[CEU][hapmap];1.00[CHB][hapmap]
rs2250028	0.80[CEU][hapmap];1.00[CHB][hapmap]
rs2409756	1.00[CHB][hapmap]
rs2572382	1.00[CHB][hapmap]
rs2572385	1.00[CHB][hapmap]
rs2572386	1.00[CHB][hapmap]
rs2572397	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs2572398	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs2736292	1.00[CHB][hapmap]
rs2736311	1.00[CHB][hapmap]
rs4841525	1.00[CHB][hapmap]
rs6601585	1.00[CHB][hapmap]
rs7009053	0.84[JPT][hapmap]
rs9657519	0.80[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	esv1815171	chr8:10940039-11128712	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv831233	chr8:11046854-11234384	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1022525	chr8:11066191-11309356	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv539474	chr8:11066191-11309356	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv890353	chr8:11097804-11110503	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10481454	C8orf5	Cis_1M	lymphoblastoid	RTeQTL
rs10481454	C8orf5	cis	uninvolved skin	skin_eQTL
rs10481454	BLK	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11101200-11116000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:11106600-11110400	Weak transcription	Colon Smooth Muscle	Colon
3	chr8:11107600-11110800	Enhancers	Primary B cells from peripheral blood	blood
4	chr8:11108000-11109800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr8:11108000-11109800	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr8:11108200-11109800	Enhancers	Primary B cells from cord blood	blood
7	chr8:11108400-11110000	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr8:11109000-11109600	Flanking Active TSS	GM12878-XiMat	blood

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