Variant report

Variant	rs696214
Chromosome Location	chr12:104080512-104080513
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	chr12:104078901..104081759-chr12:104083447..104084951,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10778277	1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11111716	0.82[AMR][1000 genomes]
rs11614418	0.91[CHB][hapmap];0.80[CHD][hapmap];0.98[GIH][hapmap]
rs12314920	0.92[CEU][hapmap]
rs12368532	0.92[CEU][hapmap]
rs4981017	0.92[CEU][hapmap]
rs4981018	0.92[CEU][hapmap]
rs57641074	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs697204	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs697205	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs697206	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs697207	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs697208	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs697211	0.86[CHB][hapmap]
rs703651	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7296561	0.82[AMR][1000 genomes]
rs7296691	0.89[ASW][hapmap];0.87[CHB][hapmap];0.86[GIH][hapmap];0.86[LWK][hapmap];0.87[MEX][hapmap];0.83[MKK][hapmap];0.86[TSI][hapmap];0.82[AMR][1000 genomes]
rs7303939	0.92[CEU][hapmap];0.83[TSI][hapmap]
rs7304095	0.92[CEU][hapmap]
rs7309088	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs7312283	0.87[CHB][hapmap];0.89[GIH][hapmap];0.86[TSI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv560038	chr12:104053420-104092996	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs696214	PAH	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104074800-104089400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr12:104079000-104081000	Enhancers	Fetal Intestine Large	intestine
3	chr12:104079200-104082400	Weak transcription	Fetal Muscle Leg	muscle
4	chr12:104079400-104085800	Weak transcription	Spleen	Spleen

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