Variant report

Variant	rs1014168
Chromosome Location	chr7:120024966-120024967
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	chr7:120020344..120022950-chr7:120023648..120028182,4	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10156047	0.82[CEU][hapmap]
rs10156120	0.82[CEU][hapmap]
rs10264724	0.82[CEU][hapmap]
rs10277228	0.82[CEU][hapmap]
rs1035014	0.88[CEU][hapmap];0.82[AMR][1000 genomes]
rs10488287	0.94[CEU][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10488290	0.81[TSI][hapmap]
rs10953908	0.94[CEU][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10953910	0.81[TSI][hapmap]
rs11765076	0.81[TSI][hapmap]
rs11769050	0.81[TSI][hapmap]
rs11772156	0.81[TSI][hapmap]
rs11773299	0.84[CEU][hapmap];0.86[EUR][1000 genomes]
rs12533932	0.88[CEU][hapmap];0.82[AMR][1000 genomes]
rs12539149	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12666459	0.88[CEU][hapmap];0.82[AMR][1000 genomes]
rs12706276	0.94[CEU][hapmap]
rs12706279	0.87[CEU][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12706280	0.94[CEU][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12706282	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706283	1.00[JPT][hapmap]
rs1304206	0.94[CEU][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17324055	0.81[TSI][hapmap]
rs17376968	0.81[TSI][hapmap]
rs1860704	0.88[CEU][hapmap];0.80[AMR][1000 genomes]
rs1860705	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs1861064	0.82[CEU][hapmap]
rs1990429	0.88[CEU][hapmap];0.82[AMR][1000 genomes]
rs2024234	1.00[JPT][hapmap]
rs2191734	0.82[AMR][1000 genomes]
rs2191736	0.94[CEU][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2191737	0.94[CEU][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2402525	0.88[CEU][hapmap];0.82[AMR][1000 genomes]
rs2402526	0.88[CEU][hapmap];0.82[AMR][1000 genomes]
rs2402527	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4730956	0.87[CEU][hapmap];0.82[AMR][1000 genomes]
rs4730958	0.94[CEU][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4730960	0.94[CEU][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6466741	0.82[AMR][1000 genomes]
rs6942715	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7792980	0.88[CEU][hapmap];0.80[AMR][1000 genomes]
rs7805413	0.88[CEU][hapmap]
rs7809257	0.81[TSI][hapmap]
rs7810357	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8180795	0.94[CEU][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024920	chr7:120002420-120083753	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv516686	chr7:120015843-120223084	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv1026821	chr7:120020317-120190437	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1014168	PTPRZ1	cis	parietal	SCAN
rs1014168	RNF133	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120024800-120028800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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