Variant report

Variant	rs4473934
Chromosome Location	chr7:150284442-150284443
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10215009	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10216065	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10226091	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10231133	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10231482	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10236504	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10240847	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10277380	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11982892	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12537216	0.90[EUR][1000 genomes]
rs12537905	0.82[JPT][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1522596	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1522597	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1608157	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17553490	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1916004	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1916011	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1916012	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1916028	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2373810	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2373812	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28763707	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2888663	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34920034	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4439037	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55855717	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56194161	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62501527	0.91[EUR][1000 genomes]
rs66873945	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6968637	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7778374	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7786392	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7788153	0.81[EUR][1000 genomes]
rs7791295	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7796156	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7803206	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7803501	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9690525	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9691152	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
7	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
8	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
9	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
10	esv3477858	chr7:150283319-150288217	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
11	esv3477859	chr7:150283319-150288217	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4473934	GIMAP4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150281000-150285200	Enhancers	Primary T helper cells fromperipheralblood	blood
2	chr7:150281400-150285200	Enhancers	Primary T cells from cord blood	blood
3	chr7:150281600-150284600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr7:150281800-150284600	Enhancers	Primary T cells fromperipheralblood	blood
5	chr7:150281800-150285000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr7:150282000-150284800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr7:150282000-150285000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr7:150282400-150285400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr7:150282400-150285400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr7:150282600-150284600	Enhancers	Right Atrium	heart
11	chr7:150282600-150285000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr7:150282800-150285000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr7:150282800-150285200	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr7:150283000-150284600	Enhancers	Primary hematopoietic stem cells	blood
15	chr7:150283000-150284800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr7:150283200-150284800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr7:150283200-150285000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:150283200-150285400	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr7:150283400-150284600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr7:150283400-150284600	Enhancers	Fetal Thymus	thymus
21	chr7:150283400-150284600	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr7:150283400-150285000	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr7:150283400-150285000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:150283400-150285200	Enhancers	Dnd41	blood
25	chr7:150283600-150284600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr7:150283800-150284800	Weak transcription	Brain Anterior Caudate	brain
27	chr7:150284000-150284600	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr7:150284200-150285000	Enhancers	GM12878-XiMat	blood
29	chr7:150284400-150284600	Enhancers	Colon Smooth Muscle	Colon
30	chr7:150284400-150284800	Enhancers	Brain Cingulate Gyrus	brain
31	chr7:150284400-150285000	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr7:150284400-150285000	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr7:150284400-150285000	Enhancers	Adipose Nuclei	Adipose
34	chr7:150284400-150285200	Enhancers	HUVEC	blood vessel

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