Variant report

Variant	rs7180421
Chromosome Location	chr15:50000272-50000273
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10851478	1.00[YRI][hapmap]
rs10851479	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes]
rs11070706	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[YRI][hapmap]
rs11634947	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11637582	0.93[CHB][hapmap]
rs11852336	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12232355	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs12591317	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12591659	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12902960	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12906134	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12906972	0.82[EUR][1000 genomes]
rs12907944	0.85[EUR][1000 genomes]
rs12908635	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs12912703	0.91[CHB][hapmap];0.83[EUR][1000 genomes]
rs1395901	1.00[CEU][hapmap];0.93[CHB][hapmap];0.82[EUR][1000 genomes]
rs17402115	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[YRI][hapmap]
rs17404727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17483319	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs1911612	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs1948975	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1976551	0.93[CHB][hapmap]
rs34694913	0.81[EUR][1000 genomes]
rs34941109	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4775816	0.83[EUR][1000 genomes]
rs62022665	0.84[EUR][1000 genomes]
rs62022700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7172906	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8032688	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8033476	0.92[CHB][hapmap]
rs925104	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[YRI][hapmap];0.81[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	nsv1044277	chr15:49921547-50702386	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542380	chr15:49921547-50702386	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv569393	chr15:49977687-50012256	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7180421	COPS2	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49996200-50001600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr15:49998400-50001000	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr15:49998600-50001200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr15:49999600-50002600	Weak transcription	Aorta	Aorta
5	chr15:50000000-50000600	Enhancers	Monocytes-CD14+_RO01746	blood

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