Variant report

Variant	rs1055240
Chromosome Location	chr7:150390504-150390505
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150384449..150386247-chr7:150390461..150392753,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10248822	0.87[ASN][1000 genomes]
rs10488372	0.87[CHB][hapmap];0.91[CHD][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs1558479	0.87[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs2080051	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3800786	0.87[CHB][hapmap];0.91[CHD][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs4725928	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6464093	0.87[ASN][1000 genomes]
rs6464094	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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	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	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
6	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
7	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv967475	chr7:150323577-150610034	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv831187	chr7:150325913-150503500	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1055240	GIMAP5	Cis_1M	lymphoblastoid	RTeQTL
rs1055240	GIMAP6	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150383600-150390800	Weak transcription	Small Intestine	intestine
2	chr7:150383600-150391000	Weak transcription	Gastric	stomach
3	chr7:150383600-150391400	Weak transcription	Brain Substantia Nigra	brain
4	chr7:150383800-150392200	Weak transcription	Right Atrium	heart
5	chr7:150383800-150392200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr7:150384200-150390600	ZNF genes & repeats	GM12878-XiMat	blood
7	chr7:150385000-150391600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr7:150385800-150390600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr7:150385800-150391200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
10	chr7:150385800-150392200	Weak transcription	Brain Hippocampus Middle	brain
11	chr7:150386200-150391200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:150386600-150391200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
13	chr7:150387000-150393200	ZNF genes & repeats	Primary T cells from cord blood	blood
14	chr7:150387200-150391200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
15	chr7:150387200-150393600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
16	chr7:150387600-150390600	Genic enhancers	Dnd41	blood
17	chr7:150387600-150391400	ZNF genes & repeats	Primary B cells from cord blood	blood
18	chr7:150387800-150391200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
19	chr7:150388000-150391200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
20	chr7:150388000-150391200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
21	chr7:150388200-150390600	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr7:150388200-150391200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
23	chr7:150388200-150391600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr7:150388400-150392200	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr7:150389400-150391200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
26	chr7:150389600-150392200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr7:150389800-150390600	Weak transcription	Fetal Intestine Small	intestine
28	chr7:150390000-150391200	Weak transcription	Left Ventricle	heart
29	chr7:150390000-150392200	Weak transcription	Colonic Mucosa	Colon
30	chr7:150390000-150392600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr7:150390200-150390600	Weak transcription	Ovary	ovary
32	chr7:150390200-150391400	Weak transcription	Adipose Nuclei	Adipose
33	chr7:150390200-150392200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr7:150390200-150392200	Weak transcription	Liver	Liver
35	chr7:150390400-150391600	Weak transcription	Primary monocytes fromperipheralblood	blood

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