Variant report

Variant	rs7819285
Chromosome Location	chr8:91212148-91212149
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:91210550..91212657-chr8:91237751..91239928,2	K562	blood:
2	chr8:91210166..91212699-chr8:91233871..91237591,3	K562	blood:
3	chr8:91180601..91182889-chr8:91210829..91212948,2	K562	blood:
4	chr8:91197950..91200166-chr8:91210110..91212853,2	K562	blood:
5	chr8:91204870..91208091-chr8:91210126..91212391,3	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10086980	0.81[LWK][hapmap]
rs10088090	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10102323	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10106513	0.95[ASN][1000 genomes]
rs10111402	0.94[CHB][hapmap];0.94[CHD][hapmap];0.88[GIH][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs10113268	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10504892	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10808584	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10956507	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10956509	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956510	0.97[ASN][1000 genomes]
rs1155031	0.81[ASN][1000 genomes]
rs12546672	0.92[ASN][1000 genomes]
rs12676309	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12676331	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12679792	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12681542	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2021728	0.83[ASN][1000 genomes]
rs2107073	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2158222	0.91[LWK][hapmap]
rs2189260	0.93[CHB][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs2189262	0.80[ASN][1000 genomes]
rs2189264	0.85[EUR][1000 genomes]
rs2214418	0.94[CHB][hapmap];0.83[GIH][hapmap];0.84[TSI][hapmap]
rs2339109	0.91[LWK][hapmap]
rs28461789	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34676253	0.90[ASN][1000 genomes]
rs4577996	0.94[CHB][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];0.89[JPT][hapmap];0.88[TSI][hapmap];0.95[ASN][1000 genomes]
rs4961178	0.98[ASN][1000 genomes]
rs4961179	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4961180	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4961181	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4961182	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4961183	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4961184	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58516164	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7010298	0.94[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.85[TSI][hapmap];0.98[ASN][1000 genomes]
rs7815299	0.94[CHB][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs7815353	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7818663	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7823556	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7828848	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7831194	0.98[ASN][1000 genomes]
rs7842059	0.93[ASN][1000 genomes]
rs9297813	0.94[CHB][hapmap];0.83[GIH][hapmap];0.84[TSI][hapmap]
rs9643253	0.90[ASN][1000 genomes]
rs978070	0.83[ASN][1000 genomes]
rs983139	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
5	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
6	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
7	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7819285	RUNX1T1	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91211400-91213200	ZNF genes & repeats	K562	blood
2	chr8:91211800-91212200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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