Variant report

Variant	rs165374
Chromosome Location	chr2:180678258-180678259
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr2:180677404-180678305	MCF-7	breast:	n/a	chr2:180677442-180677451 chr2:180677457-180677466

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:180676125..180678431-chr2:180681304..180683534,2	K562	blood:

Variant related genes	Relation type
ENSG00000213126	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10153833	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs10930887	0.96[CEU][hapmap];0.95[GIH][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13014995	0.92[CEU][hapmap]
rs1352111	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[EUR][1000 genomes]
rs1383413	0.84[CEU][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs165373	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs165379	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs165380	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs165381	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs187745	0.92[CEU][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1906012	0.92[CHB][hapmap];0.81[JPT][hapmap]
rs194674	0.96[CEU][hapmap];0.95[GIH][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2367797	0.85[CEU][hapmap];0.88[MEX][hapmap];0.84[TSI][hapmap]
rs259831	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs259833	0.96[CEU][hapmap];0.95[GIH][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2630539	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28520865	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs357711	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs357712	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs357714	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[GIH][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap]
rs4894131	0.81[CEU][hapmap]
rs55869281	0.88[ASN][1000 genomes]
rs56388438	0.89[ASN][1000 genomes]
rs6725456	0.92[CEU][hapmap]
rs6752731	0.92[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7557122	0.92[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7588035	0.92[CEU][hapmap]
rs7597666	0.92[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[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	nsv1002305	chr2:180568558-180812846	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv428731	chr2:180629389-180805171	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs165374	EVX2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180677400-180679000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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