Variant report

Variant	rs6752731
Chromosome Location	chr2:180684007-180684008
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:180683248..180686048-chr2:180688712..180690525,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10153833	0.92[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap]
rs10930887	0.89[CEU][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12328338	0.80[MEX][hapmap]
rs13014793	0.88[JPT][hapmap]
rs13014995	0.85[CEU][hapmap]
rs1352111	0.92[CEU][hapmap];0.86[CHB][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1383413	0.84[CEU][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs165373	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs165374	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]
rs165379	0.92[CEU][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs165380	0.92[CEU][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];0.96[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs165381	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs187745	0.92[CEU][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1906012	0.92[CHB][hapmap]
rs194674	0.89[CEU][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2219670	0.80[MEX][hapmap]
rs2367797	0.92[MEX][hapmap];0.84[TSI][hapmap]
rs259831	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs259833	0.89[CEU][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2630539	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28520865	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs357708	0.88[JPT][hapmap]
rs357709	0.88[JPT][hapmap]
rs357711	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs357712	0.92[CEU][hapmap];0.86[CHB][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs357714	0.92[CEU][hapmap];0.86[CHB][hapmap];0.85[CHD][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs55869281	0.94[ASN][1000 genomes]
rs56388438	0.96[ASN][1000 genomes]
rs6725456	0.92[CEU][hapmap]
rs7557122	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7588035	0.85[CEU][hapmap]
rs7597666	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7608363	0.88[JPT][hapmap]

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
rs6752731	EVX2	cis	cerebellum	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180682800-180686800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:180682800-180688400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:180682800-180690400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:180683200-180690400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:180683800-180684400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr2:180684000-180684200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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