Variant report

Variant	rs1934628
Chromosome Location	chr1:210912467-210912468
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1770213	1.00[CHB][hapmap];0.95[GIH][hapmap];0.92[JPT][hapmap];0.82[MEX][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1770216	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1770219	0.90[GIH][hapmap];0.90[JPT][hapmap];0.88[MEX][hapmap]
rs1777245	0.91[CHB][hapmap];0.92[JPT][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1777258	0.92[JPT][hapmap]
rs1777261	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1777264	0.91[CHB][hapmap];0.85[CHD][hapmap];0.95[GIH][hapmap];0.92[JPT][hapmap];0.82[MEX][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1890839	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1890840	0.91[GIH][hapmap];0.88[MEX][hapmap]
rs1890845	1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[ASN][1000 genomes]
rs1890847	0.92[CHB][hapmap];0.80[ASN][1000 genomes]
rs1934629	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1934630	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1934636	1.00[CEU][hapmap];0.90[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];0.92[JPT][hapmap];0.94[MEX][hapmap];0.85[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2884390	1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[ASN][1000 genomes]
rs4405188	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4951564	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6665563	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7514108	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7515909	0.85[GIH][hapmap];0.88[MEX][hapmap]
rs7546472	0.81[GIH][hapmap];0.82[MEX][hapmap]
rs9429846	1.00[CHB][hapmap];0.92[JPT][hapmap];0.91[ASN][1000 genomes]
rs9429847	0.89[ASW][hapmap];0.92[CEU][hapmap];0.82[CHB][hapmap];0.82[CHD][hapmap];0.92[JPT][hapmap];0.85[LWK][hapmap];0.81[MEX][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[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	nsv873148	chr1:210665583-210994339	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv873153	chr1:210900481-210994339	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv999018	chr1:210907239-210999306	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1934628	BATF3	cis	parietal	SCAN
rs1934628	DTL	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210871200-210932000	Weak transcription	HSMM	muscle
2	chr1:210903800-210919200	Weak transcription	HSMMtube	muscle
3	chr1:210905600-210921200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr1:210910600-210921200	Weak transcription	Brain Angular Gyrus	brain

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