Variant report

Variant	rs983139
Chromosome Location	chr8:91231109-91231110
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:91221104..91224664-chr8:91229053..91233226,4	K562	blood:
2	chr8:91228314..91231823-chr8:91238061..91241526,6	K562	blood:
3	chr8:91227850..91231823-chr8:91238006..91241292,4	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10088090	0.86[EUR][1000 genomes]
rs10102323	0.95[EUR][1000 genomes]
rs10106513	0.98[ASN][1000 genomes]
rs10111402	0.94[CHB][hapmap];0.94[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.98[ASN][1000 genomes]
rs10113268	0.85[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10504892	0.97[EUR][1000 genomes]
rs10808584	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10956507	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10956509	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10956510	0.94[ASN][1000 genomes]
rs1155031	0.84[ASN][1000 genomes]
rs12546672	0.95[ASN][1000 genomes]
rs12676309	0.97[EUR][1000 genomes]
rs12676331	0.97[EUR][1000 genomes]
rs12679792	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12681542	0.97[EUR][1000 genomes]
rs2021728	0.86[ASN][1000 genomes]
rs2107073	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2189260	0.93[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs2189262	0.83[ASN][1000 genomes]
rs2189264	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2214418	0.94[CHB][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.84[TSI][hapmap]
rs28461789	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34676253	0.87[ASN][1000 genomes]
rs4577996	0.94[CHB][hapmap];0.94[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.87[MEX][hapmap];0.88[TSI][hapmap];0.98[ASN][1000 genomes]
rs4961178	0.95[ASN][1000 genomes]
rs4961179	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4961180	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4961181	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4961182	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4961183	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4961184	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58516164	0.97[EUR][1000 genomes]
rs7010298	0.94[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];0.85[TSI][hapmap];0.95[ASN][1000 genomes]
rs7815299	0.94[CHB][hapmap];0.94[JPT][hapmap];0.98[ASN][1000 genomes]
rs7815353	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7818663	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7819285	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7823556	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.84[JPT][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7828848	0.95[EUR][1000 genomes]
rs7831194	0.95[ASN][1000 genomes]
rs7842059	0.96[ASN][1000 genomes]
rs9297813	0.94[CHB][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.84[TSI][hapmap]
rs9643253	0.93[ASN][1000 genomes]
rs978070	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs983139	RUNX1T1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91227800-91232000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:91228400-91236800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr8:91229200-91232000	Weak transcription	K562	blood
4	chr8:91229600-91238600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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