Variant report

Variant	rs10239578
Chromosome Location	chr7:150292194-150292195
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10085891	0.85[EUR][1000 genomes]
rs10216102	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10224387	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10227094	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10232947	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10240209	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10248553	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10255487	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10270122	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10273606	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11971770	0.89[EUR][1000 genomes]
rs11975418	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11984138	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12671922	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1317276	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1916027	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2140138	0.89[EUR][1000 genomes]
rs2140139	0.89[EUR][1000 genomes]
rs2140145	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28537284	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28829297	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4143732	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55653011	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56158089	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57604196	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs60628216	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6464081	0.89[EUR][1000 genomes]
rs6959171	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6959264	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6961075	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73727323	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73727325	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73727338	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7781704	0.87[EUR][1000 genomes]
rs7782221	0.89[EUR][1000 genomes]
rs7787987	0.89[EUR][1000 genomes]
rs7797456	0.89[EUR][1000 genomes]
rs7800143	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7802869	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7806724	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs952642	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9640279	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	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
4	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
5	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
6	esv16529	chr7:150249312-150312843	Genic enhancers Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	esv2758617	chr7:150251949-150463804	Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	esv2759573	chr7:150251949-150463804	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	esv1793193	chr7:150285801-150301569	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats	lncRNA	n/a	inside rSNPs	diseases
10	esv1800872	chr7:150285801-150301569	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	inside rSNPs	diseases
11	esv1804946	chr7:150285801-150301569	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
12	esv1814847	chr7:150285801-150301569	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	inside rSNPs	diseases
13	esv1835596	chr7:150285801-150301569	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	inside rSNPs	diseases
14	esv1841982	chr7:150285801-150301569	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
15	nsv442238	chr7:150285801-150301569	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10239578	GIMAP5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150291000-150292200	Enhancers	Spleen	Spleen
2	chr7:150291200-150292600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr7:150291200-150293200	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr7:150291200-150293800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr7:150291400-150292600	Enhancers	Primary T cells fromperipheralblood	blood
6	chr7:150291800-150292200	Enhancers	Left Ventricle	heart
7	chr7:150291800-150292600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr7:150291800-150292800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr7:150291800-150293000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr7:150291800-150293200	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr7:150291800-150293200	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr7:150292000-150292200	Enhancers	Right Atrium	heart
13	chr7:150292000-150292200	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr7:150292000-150292400	Enhancers	Adipose Nuclei	Adipose
15	chr7:150292000-150292600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr7:150292000-150292800	Enhancers	Primary T cells from cord blood	blood
17	chr7:150292000-150293000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr7:150292000-150293200	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr7:150292000-150293200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr7:150292000-150293200	Enhancers	HUVEC	blood vessel

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