Variant report

Variant	rs10485927
Chromosome Location	chr7:78664486-78664487
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:78656805..78659401-chr7:78662080..78664588,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1014797	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs1014798	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs10225728	1.00[TSI][hapmap]
rs10225940	1.00[CEU][hapmap]
rs10226562	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs10226710	1.00[CEU][hapmap]
rs10228655	0.89[CEU][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs10232513	1.00[CEU][hapmap]
rs10232994	1.00[CEU][hapmap]
rs10233023	1.00[CEU][hapmap]
rs10236869	1.00[CEU][hapmap]
rs10237768	1.00[CEU][hapmap]
rs10241786	1.00[CEU][hapmap]
rs10244720	1.00[CEU][hapmap]
rs10249662	1.00[CEU][hapmap];0.81[YRI][hapmap]
rs10250886	1.00[CEU][hapmap]
rs10254541	1.00[CEU][hapmap]
rs10254557	1.00[CEU][hapmap]
rs10255028	1.00[CEU][hapmap]
rs10268461	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs10281393	1.00[CEU][hapmap]
rs10485922	1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs10485928	1.00[CEU][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151778	1.00[CHD][hapmap]
rs17151853	1.00[CEU][hapmap]
rs17151861	1.00[CEU][hapmap]
rs17151887	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs17151958	1.00[CHD][hapmap]
rs17406392	0.80[CEU][hapmap]
rs17471316	0.88[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs1799001	0.88[GIH][hapmap]
rs2363929	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41435246	1.00[ASN][1000 genomes]
rs6466443	0.88[GIH][hapmap]
rs6979739	1.00[TSI][hapmap]
rs7787164	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464598	chr7:78492642-79483480	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv607659	chr7:78492642-79483480	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv482826	chr7:78548319-78717605	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv471642	chr7:78548320-78717605	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1029799	chr7:78608097-79061737	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv831040	chr7:78623195-78831998	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv607660	chr7:78644077-78666050	Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10485927	PHTF2	cis	parietal	SCAN

Chromatin state (count:0 , 50 per page) page:

No data

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