Variant report

Variant	rs12682044
Chromosome Location	chr8:91238566-91238567
allele	A/G
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:91179428..91181917-chr8:91237030..91238602,2	K562	blood:
2	chr8:91143606..91145604-chr8:91237948..91239469,2	K562	blood:
3	chr8:91187662..91190502-chr8:91236582..91238750,2	K562	blood:
4	chr8:91179428..91181917-chr8:91237030..91239652,3	K562	blood:
5	chr8:91235807..91240613-chr8:91250967..91255237,5	K562	blood:
6	chr8:91210550..91212657-chr8:91237751..91239928,2	K562	blood:
7	chr8:91228314..91231823-chr8:91238061..91241526,6	K562	blood:
8	chr8:91237101..91239532-chr8:91255640..91258349,3	K562	blood:
9	chr8:91227850..91231823-chr8:91238006..91241292,4	K562	blood:

No data

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10086980	0.94[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.92[GIH][hapmap];0.82[JPT][hapmap];0.94[TSI][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10096924	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12679473	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12679936	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12681301	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12681563	0.84[EUR][1000 genomes]
rs13253603	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13275049	0.95[ASN][1000 genomes]
rs13276534	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13439055	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16904163	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2056839	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2056840	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2158222	0.94[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.94[GIH][hapmap];0.88[JPT][hapmap];0.94[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2189258	0.95[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap];0.87[TSI][hapmap];0.95[ASN][1000 genomes]
rs2339108	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2339109	0.94[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.94[GIH][hapmap];0.88[JPT][hapmap];0.94[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28465357	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2879344	0.80[EUR][1000 genomes]
rs33958462	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62530359	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67438267	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7842660	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9642892	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9643256	0.94[CEU][hapmap];0.94[CHB][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9643257	0.82[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs968950	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12682044	RUNX1T1	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91229600-91238600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr8:91235600-91240000	Transcr. at gene 5' and 3'	K562	blood
3	chr8:91237000-91240600	Weak transcription	Hela-S3	cervix

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