Variant report

Variant	rs4272282
Chromosome Location	chr7:150206362-150206363
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10238154	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12216545	0.96[ASN][1000 genomes]
rs12531779	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12536875	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12536876	0.93[ASN][1000 genomes]
rs1464746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1464748	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1464749	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1464750	0.96[CEU][hapmap];0.89[CHB][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2272092	0.81[JPT][hapmap]
rs3735081	0.83[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4342497	0.96[CEU][hapmap];0.89[CHB][hapmap];0.87[MEX][hapmap];0.98[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4510754	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4529370	0.93[ASN][1000 genomes]
rs4574761	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4725904	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56272032	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6464080	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv1031309	chr7:150171651-150222230	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	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

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs4272282	GIMAP4	cis	parietal	SCAN
rs4272282	GIMAP4	Cis_1M	lymphoblastoid	RTeQTL
rs4272282	GIMAP4	cis	multi-tissue	Pritchard
rs4272282	CNTNAP2	cis	cerebellum	SCAN
rs4272282	MAFF	trans	multi-tissue	Pritchard
rs4272282	GIMAP2	cis	parietal	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150201600-150211200	Weak transcription	Thymus	Thymus
2	chr7:150202400-150207200	Weak transcription	Dnd41	blood
3	chr7:150202600-150211000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr7:150202800-150206400	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr7:150202800-150206400	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr7:150202800-150206800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:150202800-150210800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:150203600-150206800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr7:150203800-150211200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr7:150205000-150207800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr7:150205400-150208200	Enhancers	Primary T cells from cord blood	blood
12	chr7:150205400-150211000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr7:150205600-150208800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr7:150205600-150209400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr7:150205600-150209600	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr7:150205600-150211000	Enhancers	Primary T cells fromperipheralblood	blood
17	chr7:150205800-150206400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr7:150205800-150207200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr7:150205800-150207200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr7:150205800-150207200	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr7:150205800-150209800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr7:150206000-150206600	Enhancers	Primary T helper naive cells from peripheral blood	blood

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