Variant report

Variant	rs55653011
Chromosome Location	chr7:150233303-150233304
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150232590..150235233-chr7:150277857..150280710,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10216102	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10227094	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10239578	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10240209	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10255487	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10270122	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10273606	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11971770	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11975418	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11984138	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12671922	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1317276	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1916027	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2140138	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2140139	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28409283	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28537284	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28829297	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35890864	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4143732	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56158089	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57604196	0.82[EUR][1000 genomes]
rs60628216	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6464081	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6959171	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6959264	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6961075	0.89[EUR][1000 genomes]
rs73727323	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73727325	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73727338	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7781704	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7782221	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7787987	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7797456	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7800143	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7802869	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7806724	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs952642	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9640279	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034409	chr7:149844639-150447071	Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1015582	chr7:149967986-150285104	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
6	nsv1025129	chr7:150146593-150266217	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	esv3395746	chr7:150181141-150300680	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	esv3341786	chr7:150220353-150269134	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv437033	chr7:150228695-150245988	Enhancers ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs55653011	GIMAP5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150230600-150234200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr7:150233000-150233800	Enhancers	Primary T cells fromperipheralblood	blood
3	chr7:150233200-150233600	Enhancers	Gastric	stomach

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