Variant report

Variant	rs2158785
Chromosome Location	chr7:86386989-86386990
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:86381256..86384040-chr7:86386428..86390003,4	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10238436	0.86[CEU][hapmap];0.81[CHD][hapmap];0.84[MEX][hapmap]
rs10239714	0.91[CEU][hapmap];0.86[CHB][hapmap];0.80[CHD][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10274631	0.91[CEU][hapmap];0.86[CHB][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10276808	0.89[ASW][hapmap];0.91[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.94[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12671181	0.83[GIH][hapmap]
rs12704284	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12704286	0.91[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];0.93[MEX][hapmap];0.94[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13237764	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2189813	0.91[CEU][hapmap];0.86[CHB][hapmap];0.80[CHD][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2237547	0.91[CEU][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];0.93[MEX][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes]
rs2237548	0.91[CEU][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2237550	0.91[CEU][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.89[YRI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2237553	0.91[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2237554	0.91[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2237555	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2237556	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2237558	0.91[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2282963	0.81[CEU][hapmap];0.86[CHB][hapmap];0.81[AMR][1000 genomes]
rs2282964	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35540420	0.86[GIH][hapmap]
rs56932446	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6465083	0.80[CHB][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6943659	0.86[CHB][hapmap];0.93[MEX][hapmap];0.83[TSI][hapmap]
rs6947784	0.93[CHB][hapmap];0.89[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs757656	0.91[CEU][hapmap];0.86[CHB][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs917071	0.91[CEU][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];0.86[MEX][hapmap];0.92[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][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	nsv1025032	chr7:86032479-86642973	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv831053	chr7:86268171-86440999	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1025277	chr7:86299224-87206007	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
4	nsv538999	chr7:86299224-87206007	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv532147	chr7:86299225-87121975	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2158785	SRI	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86377600-86389200	Weak transcription	Brain Cingulate Gyrus	brain
2	chr7:86379600-86400200	Weak transcription	Fetal Brain Female	brain
3	chr7:86379800-86389200	Weak transcription	Brain Anterior Caudate	brain
4	chr7:86382400-86389200	Weak transcription	Brain Angular Gyrus	brain
5	chr7:86384800-86389200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr7:86385000-86389000	Weak transcription	Brain Hippocampus Middle	brain
7	chr7:86386800-86387200	Enhancers	Fetal Heart	heart

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