Variant report

Variant	rs12541922
Chromosome Location	chr8:105848710-105848711
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:105839051..105841998-chr8:105848629..105851497,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1020825	0.85[ASN][1000 genomes]
rs1020827	0.85[ASN][1000 genomes]
rs11778594	0.84[ASN][1000 genomes]
rs12550629	0.98[ASN][1000 genomes]
rs12675629	0.98[ASN][1000 genomes]
rs12682250	0.98[ASN][1000 genomes]
rs1271157	0.94[ASN][1000 genomes]
rs13249699	0.99[ASN][1000 genomes]
rs13250265	0.99[ASN][1000 genomes]
rs13260237	0.99[ASN][1000 genomes]
rs13271377	0.98[ASN][1000 genomes]
rs13276884	0.98[ASN][1000 genomes]
rs13278112	0.98[ASN][1000 genomes]
rs13278977	0.98[ASN][1000 genomes]
rs13279244	0.98[ASN][1000 genomes]
rs1380688	0.98[ASN][1000 genomes]
rs1841316	0.98[ASN][1000 genomes]
rs1841317	0.98[ASN][1000 genomes]
rs1841318	0.98[ASN][1000 genomes]
rs957335	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv1032476	chr8:105609904-106030916	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv539710	chr8:105609904-106030916	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv465754	chr8:105764528-105878832	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
7	nsv611836	chr8:105764528-105878832	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105847600-105849000	Enhancers	HMEC	breast
2	chr8:105847800-105848800	Enhancers	NHEK	skin
3	chr8:105848400-105848800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:105848400-105848800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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