Variant report

Variant	rs2605574
Chromosome Location	chr11:93136444-93136445
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:93135720..93137774-chr11:93142733..93145703,2	K562	blood:

Variant related genes	Relation type
ENSG00000165325	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1456238	0.93[CEU][hapmap];0.92[JPT][hapmap];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1869914	0.93[CEU][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1975820	0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs2259633	0.93[CEU][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2446061	0.80[CEU][hapmap];0.85[JPT][hapmap]
rs2605580	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2605581	0.80[CEU][hapmap];0.85[JPT][hapmap];0.83[EUR][1000 genomes]
rs2605583	0.85[JPT][hapmap]
rs2608214	0.86[CEU][hapmap];0.94[CHD][hapmap];0.92[JPT][hapmap];0.85[TSI][hapmap]
rs2608215	0.86[CEU][hapmap];0.92[JPT][hapmap]
rs2658773	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2658775	0.93[CEU][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2658776	0.93[CEU][hapmap];0.92[JPT][hapmap]
rs2658777	0.93[CEU][hapmap];0.85[JPT][hapmap]
rs2658778	0.80[CEU][hapmap];0.94[CHD][hapmap];0.85[JPT][hapmap]
rs2658779	0.80[CEU][hapmap];0.94[CHD][hapmap]
rs2658781	0.80[CEU][hapmap];1.00[CHD][hapmap]
rs2658791	0.80[EUR][1000 genomes]
rs2925355	0.82[CHD][hapmap];0.92[JPT][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2925362	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2925938	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3019205	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3019206	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3019221	0.82[CHD][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];0.96[TSI][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3019222	0.86[ASN][1000 genomes]
rs3019223	0.86[ASN][1000 genomes]
rs3020057	0.93[CEU][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3020061	0.81[LWK][hapmap]
rs3020073	0.81[CEU][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];0.93[JPT][hapmap];0.93[TSI][hapmap];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3020076	0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3020083	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72972357	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72972364	0.89[EUR][1000 genomes];0.96[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	nsv1039134	chr11:92790000-93219942	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
3	nsv1035530	chr11:93114111-93148948	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv555941	chr11:93129893-93181050	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv439	chr11:93135936-93171682	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2605574	BRI3	trans	parietal	SCAN
rs2605574	CCDC67	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93126800-93145200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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