Variant report

Variant	rs11975480
Chromosome Location	chr7:27074873-27074874
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	7:27071265-27080138..7:27181770-27195105	K562	blood:

Variant related genes	Relation type
ENSG00000106006	Chromatin interaction
ENSG00000106004	Chromatin interaction
ENSG00000105997	Chromatin interaction
ENSG00000254369	Chromatin interaction
ENSG00000273433	Chromatin interaction
ENSG00000272801	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1005977	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10231265	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10267442	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1082313	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13230726	0.91[AFR][1000 genomes]
rs13311400	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2015424	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs213514	0.80[ASN][1000 genomes]
rs213520	0.83[EUR][1000 genomes]
rs213532	0.81[ASN][1000 genomes]
rs2252947	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2264680	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2428420	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2428424	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2428426	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2428427	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2428428	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2428430	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2462901	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2462903	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2462905	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2462907	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2465265	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2465267	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2522822	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2522823	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2522829	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2693658	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2693666	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2712231	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2712232	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2712235	0.88[EUR][1000 genomes]
rs2712240	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2712241	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2712243	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2712249	0.88[EUR][1000 genomes]
rs2936426	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2960784	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2960785	0.80[ASN][1000 genomes]
rs2960786	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs774248	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs774254	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs774255	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs774264	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs774267	0.80[ASN][1000 genomes]
rs774269	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs799237	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025538	chr7:26482342-27376045	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
2	nsv538805	chr7:26482342-27376045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
3	nsv1018709	chr7:26990384-27216552	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
4	nsv538806	chr7:26990384-27216552	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
5	nsv967485	chr7:27066773-27082518	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
6	nsv887856	chr7:27073731-27297791	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11975480	SKAP2	cis	Whole Blood	GTEx
rs11975480	HOTAIRM1	cis	Whole Blood	GTEx
rs11975480	HOXA2	cis	Whole Blood	GTEx
rs11975480	HOXA-AS2	cis	Whole Blood	GTEx

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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