Variant report

Variant	rs2068814
Chromosome Location	chr1:222923001-222923002
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:222884251..222887401-chr1:222921761..222924955,3	K562	blood:
2	chr1:222915794..222918060-chr1:222921429..222924390,2	K562	blood:

Variant related genes	Relation type
ENSG00000186063	Chromatin interaction
ENSG00000162819	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11490203	0.82[ASN][1000 genomes]
rs12043288	0.95[CEU][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs12073392	0.81[ASN][1000 genomes]
rs12749296	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17532708	0.95[CEU][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs2378603	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2378606	0.84[ASN][1000 genomes]
rs2378607	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28521319	0.88[EUR][1000 genomes]
rs28654270	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28765200	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28787398	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34311160	0.82[ASN][1000 genomes]
rs34885880	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35300015	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35725247	0.88[EUR][1000 genomes]
rs35806535	0.88[CHB][hapmap];0.93[CHD][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs4240935	0.84[ASN][1000 genomes]
rs4282830	0.91[EUR][1000 genomes]
rs61824331	0.90[EUR][1000 genomes]
rs61825253	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61825254	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61825255	0.83[EUR][1000 genomes]
rs61825258	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61825259	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6683071	0.88[CHB][hapmap];0.97[CHD][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs6700083	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873205	chr1:222718718-222923351	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2068814	TGFB2	cis	cerebellum	SCAN
rs2068814	HHIPL2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222917000-222925400	Weak transcription	Stomach Mucosa	stomach
2	chr1:222922000-222923200	Weak transcription	Primary B cells from cord blood	blood
3	chr1:222923000-222924800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:222923000-222929000	Enhancers	Primary B cells from peripheral blood	blood

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