Variant report

Variant	rs1916027
Chromosome Location	chr7:150284035-150284036
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10085891	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10216102	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10224387	0.86[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10227094	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10232947	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10235151	0.82[CEU][hapmap];0.88[YRI][hapmap]
rs10239578	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10240209	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10248553	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10255487	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10270122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10273606	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11971770	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs11975418	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11984138	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12671922	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1317276	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2140138	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs2140139	0.90[EUR][1000 genomes]
rs2140145	0.85[EUR][1000 genomes]
rs28537284	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28829297	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3088115	0.82[CEU][hapmap];0.82[CHB][hapmap]
rs3735085	0.82[CEU][hapmap];0.82[CHB][hapmap];0.92[YRI][hapmap]
rs4143732	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55653011	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56158089	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57604196	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60628216	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6464081	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs6959171	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6959264	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6961075	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73727323	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73727325	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73727338	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7781704	0.88[EUR][1000 genomes]
rs7782221	0.90[EUR][1000 genomes]
rs7787987	0.90[EUR][1000 genomes]
rs7797456	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7800143	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7802869	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7806724	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs952642	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9640279	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.94[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
rs1916027	GIMAP5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:39 , 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	chr7:150281800-150284400	Enhancers	Spleen	Spleen
5	chr7:150281800-150284600	Enhancers	Primary T cells fromperipheralblood	blood
6	chr7:150281800-150285000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr7:150282000-150284800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr7:150282000-150285000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr7:150282400-150284200	Enhancers	Right Ventricle	heart
10	chr7:150282400-150285400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr7:150282400-150285400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr7:150282600-150284600	Enhancers	Right Atrium	heart
13	chr7:150282600-150285000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr7:150282800-150285000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr7:150282800-150285200	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr7:150283000-150284600	Enhancers	Primary hematopoietic stem cells	blood
17	chr7:150283000-150284800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr7:150283200-150284400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr7:150283200-150284800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr7:150283200-150285000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:150283200-150285400	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr7:150283400-150284200	Enhancers	Primary B cells from cord blood	blood
23	chr7:150283400-150284400	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr7:150283400-150284400	Flanking Active TSS	HUVEC	blood vessel
25	chr7:150283400-150284600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr7:150283400-150284600	Enhancers	Fetal Thymus	thymus
27	chr7:150283400-150284600	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr7:150283400-150285000	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr7:150283400-150285000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:150283400-150285200	Enhancers	Dnd41	blood
31	chr7:150283600-150284200	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr7:150283600-150284400	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr7:150283600-150284600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr7:150283800-150284200	Flanking Active TSS	GM12878-XiMat	blood
35	chr7:150283800-150284400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr7:150283800-150284800	Weak transcription	Brain Anterior Caudate	brain
37	chr7:150284000-150284400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr7:150284000-150284400	Enhancers	Duodenum Mucosa	Duodenum
39	chr7:150284000-150284600	Enhancers	Duodenum Smooth Muscle	Duodenum

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