Variant report

Variant	rs7571561
Chromosome Location	chr2:213386267-213386268
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10167244	0.86[JPT][hapmap]
rs10188926	0.86[JPT][hapmap]
rs10194540	0.86[JPT][hapmap]
rs10202760	0.86[JPT][hapmap]
rs13383863	0.85[JPT][hapmap]
rs13388956	0.86[JPT][hapmap]
rs13393577	0.86[JPT][hapmap]
rs13400881	0.86[JPT][hapmap]
rs13413335	1.00[JPT][hapmap]
rs13417523	1.00[JPT][hapmap]
rs1351593	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1394780	0.86[JPT][hapmap]
rs1531788	0.89[EUR][1000 genomes]
rs16848751	0.89[EUR][1000 genomes]
rs16848753	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2128322	1.00[ASN][1000 genomes]
rs2128323	1.00[ASN][1000 genomes]
rs2178575	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2178576	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2888093	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs4404217	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[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];1.00[ASN][1000 genomes]
rs6435708	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6435709	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6712295	0.86[JPT][hapmap]
rs6724920	1.00[ASN][1000 genomes]
rs6756468	0.86[JPT][hapmap]
rs6761143	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7561571	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7564590	0.88[CEU][hapmap];0.85[TSI][hapmap];0.89[EUR][1000 genomes]
rs7565257	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7571642	1.00[ASN][1000 genomes]
rs7573568	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7598042	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[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	nsv432024	chr2:213314899-213446726	Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv948878	chr2:213345197-213534298	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1008463	chr2:213356335-213388695	Enhancers ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
4	nsv1014479	chr2:213370690-213413231	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7571561	PRH1	trans	cerebellum	SCAN
rs7571561	LANCL1	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213382600-213391800	Weak transcription	Brain Substantia Nigra	brain
2	chr2:213383600-213392200	Weak transcription	Aorta	Aorta
3	chr2:213383800-213388400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:213384400-213395400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:213385800-213386800	Weak transcription	Fetal Heart	heart

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