Variant report

Variant	rs12675530
Chromosome Location	chr8:91155100-91155101
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:91151874..91154123-chr8:91154645..91156445,2	K562	blood:
2	chr8:91155035..91157497-chr8:91163156..91166027,2	K562	blood:
3	chr8:91152815..91155655-chr8:91173130..91176716,3	K562	blood:
4	chr3:73159952..73160589-chr8:91154816..91155815,2	Hela-S3	cervix:
5	chr17:41463347..41467581-chr8:91153836..91156836,7	K562	blood:
6	chr17:41398631..41400267-chr8:91153816..91155335,2	K562	blood:
7	chr17:41463347..41467815-chr8:91153835..91156835,9	K562	blood:
8	chr3:73159943..73160600-chr8:91154835..91155836,3	HCT-116	colon:
9	chr8:91152980..91155385-chr8:91174154..91176618,2	K562	blood:
10	chr8:91152701..91155166-chr8:91157223..91159554,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000223247	Chromatin interaction
ENSG00000188825	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10504888	1.00[JPT][hapmap]
rs10504891	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13312921	0.92[JPT][hapmap]
rs13312937	0.82[ASW][hapmap]
rs16901941	0.91[JPT][hapmap];0.93[MEX][hapmap]
rs16902273	1.00[JPT][hapmap];0.93[MEX][hapmap]
rs16902355	1.00[JPT][hapmap]
rs16902376	0.82[ASW][hapmap];0.80[MKK][hapmap]
rs16902558	1.00[JPT][hapmap]
rs16902840	0.96[LWK][hapmap];0.97[MKK][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes]
rs16903927	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16903948	1.00[YRI][hapmap]
rs16904011	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16904012	0.89[AFR][1000 genomes]
rs16904073	1.00[CEU][hapmap]
rs1805811	0.92[JPT][hapmap]
rs1805824	0.92[JPT][hapmap]
rs1805826	0.92[JPT][hapmap];0.93[MEX][hapmap]
rs1805837	0.92[JPT][hapmap]
rs1805843	0.80[MKK][hapmap]
rs1805855	1.00[JPT][hapmap];0.93[MEX][hapmap]
rs1805862	1.00[JPT][hapmap]
rs1805880	1.00[JPT][hapmap]
rs1805882	1.00[JPT][hapmap]
rs1805885	1.00[JPT][hapmap];0.85[MEX][hapmap]
rs1805888	1.00[JPT][hapmap];0.93[MEX][hapmap]
rs1805894	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs1805901	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs1805902	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap]
rs1805907	1.00[CEU][hapmap];0.86[CHB][hapmap];0.92[JPT][hapmap]
rs1805910	0.95[YRI][hapmap];0.89[AFR][1000 genomes]
rs1805911	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs1805912	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs1805914	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs1805915	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2074594	1.00[JPT][hapmap]
rs2074595	1.00[JPT][hapmap]
rs2158423	0.81[MEX][hapmap]
rs2280779	0.92[JPT][hapmap];0.93[MEX][hapmap]
rs3026287	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs3358	0.91[JPT][hapmap]
rs3758145	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58769148	0.92[AFR][1000 genomes]
rs6980740	0.96[AFR][1000 genomes]
rs6982611	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6997558	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7000324	0.81[MEX][hapmap]
rs7001425	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7017507	0.84[AFR][1000 genomes]
rs73291278	0.93[AFR][1000 genomes]
rs73291282	0.93[AFR][1000 genomes]
rs73291299	0.81[AFR][1000 genomes]
rs73293212	0.86[AFR][1000 genomes]
rs73308364	0.99[AFR][1000 genomes]
rs73308442	0.89[AFR][1000 genomes]
rs769418	0.92[JPT][hapmap];0.93[MEX][hapmap]
rs7813378	1.00[JPT][hapmap]
rs7817950	0.90[AFR][1000 genomes]
rs7818138	0.91[JPT][hapmap]
rs7818433	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7822497	0.93[AFR][1000 genomes]
rs7822786	1.00[JPT][hapmap]
rs7826471	1.00[JPT][hapmap]
rs7834706	0.90[AFR][1000 genomes]
rs7836381	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7844005	1.00[JPT][hapmap];0.93[MEX][hapmap]
rs7845155	1.00[JPT][hapmap]
rs7845669	1.00[JPT][hapmap]
rs909190	0.96[AFR][1000 genomes]
rs9693170	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758164	chr8:91000786-91329669	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2759628	chr8:91000786-91329669	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	esv2757281	chr8:91090821-91235335	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv34347	chr8:91101339-91179126	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
5	nsv470225	chr8:91113616-91229254	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	nsv891184	chr8:91114698-91222654	Active TSS Genic enhancers Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	nsv824687	chr8:91144854-91177488	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	esv35109	chr8:91150726-91226940	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	esv3363164	chr8:91152801-91155349	Weak transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv818643	chr8:91153308-91212148	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12675530	ISG15	trans	brain	seeQTL
rs12675530	IFI44L	trans	brain	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91152800-91155400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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