Variant report

Variant	rs73155823
Chromosome Location	chr7:150166691-150166692
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150164063..150168544-chr7:150171397..150173219,4	K562	blood:
2	chr7:150154830..150157825-chr7:150166560..150169292,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1113485	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11769211	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1608627	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2140595	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2373748	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2373749	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56693569	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58111571	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59777480	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60114833	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61342202	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6464067	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6947973	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6969414	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73155829	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs73155823	GIMAP8	cis	Skin Sun Exposed Lower leg	GTEx
rs73155823	GIMAP8	cis	Adipose Subcutaneous	GTEx
rs73155823	GIMAP8	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150158000-150168000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr7:150158400-150174200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:150160600-150168400	Genic enhancers	Primary monocytes fromperipheralblood	blood
4	chr7:150161200-150175200	Weak transcription	Small Intestine	intestine
5	chr7:150161200-150178400	Weak transcription	Esophagus	oesophagus
6	chr7:150162200-150176600	Weak transcription	Colonic Mucosa	Colon
7	chr7:150162800-150171000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr7:150163000-150166800	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr7:150163000-150166800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:150163000-150167800	Active TSS	Right Atrium	heart
11	chr7:150163400-150171400	Genic enhancers	Primary T cells fromperipheralblood	blood
12	chr7:150163600-150176600	Weak transcription	Primary B cells from cord blood	blood
13	chr7:150163800-150167800	Active TSS	Ovary	ovary
14	chr7:150164200-150167200	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
15	chr7:150164200-150169000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr7:150164200-150169400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr7:150164200-150175400	Weak transcription	Gastric	stomach
18	chr7:150164400-150169000	Weak transcription	Liver	Liver
19	chr7:150164400-150178000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr7:150164600-150168000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr7:150164800-150166800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr7:150165000-150170400	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr7:150165400-150168000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr7:150165600-150175000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
25	chr7:150165600-150176600	Weak transcription	Fetal Intestine Small	intestine
26	chr7:150165600-150179200	Weak transcription	Brain Hippocampus Middle	brain
27	chr7:150166200-150166800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr7:150166400-150166800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr7:150166400-150168000	Active TSS	Adipose Nuclei	Adipose
30	chr7:150166400-150169000	Weak transcription	GM12878-XiMat	blood
31	chr7:150166400-150172600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr7:150166400-150176600	Weak transcription	Fetal Thymus	thymus
33	chr7:150166600-150166800	Active TSS	Left Ventricle	heart
34	chr7:150166600-150166800	Genic enhancers	HUVEC	blood vessel
35	chr7:150166600-150167400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr7:150166600-150167600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr7:150166600-150167600	Weak transcription	Lung	lung
38	chr7:150166600-150167600	Weak transcription	Spleen	Spleen
39	chr7:150166600-150167800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr7:150166600-150168200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr7:150166600-150168400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr7:150166600-150171000	Genic enhancers	Primary T cells from cord blood	blood
43	chr7:150166600-150171600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
44	chr7:150166600-150172600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr7:150166600-150172800	Weak transcription	Right Ventricle	heart
46	chr7:150166600-150173000	Weak transcription	Placenta	Placenta
47	chr7:150166600-150175200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr7:150166600-150175400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr7:150166600-150178800	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr7:150166600-150179200	Weak transcription	Fetal Muscle Leg	muscle

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