Variant report

Variant	rs10950601
Chromosome Location	chr7:16115592-16115593
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	chr7:16113784..16116426-chr7:16125295..16127374,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10227232	0.82[TSI][hapmap]
rs10277151	0.81[EUR][1000 genomes]
rs10487911	0.81[EUR][1000 genomes]
rs10950600	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10950604	0.80[EUR][1000 genomes]
rs11760717	0.81[EUR][1000 genomes]
rs11762563	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11766276	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11773533	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12533693	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12537658	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12539174	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12539945	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12667418	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12699766	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12699769	0.81[EUR][1000 genomes]
rs13221870	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13231996	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1405591	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1527203	0.81[EUR][1000 genomes]
rs1527205	0.81[EUR][1000 genomes]
rs17169263	1.00[CHB][hapmap]
rs17284967	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2240855	0.81[EUR][1000 genomes]
rs28444529	0.83[EUR][1000 genomes]
rs34612021	0.80[EUR][1000 genomes]
rs66933521	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6959719	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs758702	0.80[EUR][1000 genomes]
rs7777809	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7785638	0.82[ASN][1000 genomes]
rs7801576	0.81[EUR][1000 genomes];0.80[ASN][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	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv949309	chr7:15986709-16236162	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv949555	chr7:16078412-16279290	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10950601	PLXND1	trans	cerebellum	SCAN
rs10950601	HDAC9	cis	cerebellum	SCAN
rs10950601	TMEM106B	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16113600-16117400	Weak transcription	Fetal Lung	lung

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