Variant report

Variant	rs4738564
Chromosome Location	chr8:54920607-54920608
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:54920187..54922299-chr8:54928015..54929687,2	K562	blood:
2	chr8:54918491..54920858-chr8:54923659..54925913,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10101097	0.83[AMR][1000 genomes]
rs10113246	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11986577	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11993367	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11997954	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12674671	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12677696	0.86[EUR][1000 genomes]
rs2037068	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs28494618	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4440612	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4506187	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4737457	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4738586	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs60183530	0.81[AMR][1000 genomes]
rs61319412	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6473900	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7009781	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72614666	0.81[AMR][1000 genomes]
rs7464767	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9643824	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2758160	chr8:54832990-55016965	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2759617	chr8:54832990-55016965	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv427821	chr8:54832990-55016965	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4738564	MRPL15	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54871600-54932600	Weak transcription	Fetal Brain Male	brain
2	chr8:54892200-54932400	Weak transcription	Stomach Mucosa	stomach
3	chr8:54899200-54933400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:54899800-54932200	Weak transcription	Brain Substantia Nigra	brain
5	chr8:54900600-54922000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr8:54900800-54928400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr8:54900800-54931200	Weak transcription	Right Ventricle	heart
8	chr8:54900800-54932800	Weak transcription	Fetal Kidney	kidney
9	chr8:54901400-54926600	Weak transcription	Pancreas	Pancrea
10	chr8:54903400-54924800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr8:54903800-54923800	Weak transcription	Brain Hippocampus Middle	brain
12	chr8:54903800-54931400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr8:54903800-54932600	Weak transcription	Brain Anterior Caudate	brain
14	chr8:54903800-54933000	Weak transcription	Aorta	Aorta
15	chr8:54903800-54933400	Weak transcription	Esophagus	oesophagus
16	chr8:54904000-54922600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr8:54904000-54933600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:54904200-54926000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:54905400-54922400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr8:54905400-54926600	Weak transcription	Ovary	ovary
21	chr8:54905600-54922000	Weak transcription	Colon Smooth Muscle	Colon
22	chr8:54908200-54926800	Weak transcription	Osteobl	bone
23	chr8:54908200-54931000	Weak transcription	Thymus	Thymus
24	chr8:54909000-54921800	Weak transcription	Fetal Heart	heart
25	chr8:54909000-54923800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr8:54909000-54928800	Weak transcription	Gastric	stomach
27	chr8:54909000-54930800	Weak transcription	HUVEC	blood vessel
28	chr8:54909000-54931800	Weak transcription	Lung	lung
29	chr8:54909200-54922000	Weak transcription	NHDF-Ad	bronchial
30	chr8:54909200-54932200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:54909200-54933000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr8:54909600-54923800	Weak transcription	Psoas Muscle	Psoas
33	chr8:54909800-54928600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr8:54910400-54921600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr8:54910400-54932800	Weak transcription	Fetal Brain Female	brain
36	chr8:54910600-54924000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr8:54910600-54926600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr8:54910800-54922000	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr8:54911000-54922600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr8:54911000-54923800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr8:54911000-54926400	Weak transcription	HSMMtube	muscle
42	chr8:54911000-54932800	Weak transcription	NH-A	brain
43	chr8:54911200-54926600	Weak transcription	NHLF	lung
44	chr8:54911400-54921400	Weak transcription	HMEC	breast
45	chr8:54911400-54926800	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr8:54911400-54931000	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr8:54911600-54931000	Weak transcription	Adipose Nuclei	Adipose
48	chr8:54912400-54923800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr8:54912600-54926600	Weak transcription	Liver	Liver
50	chr8:54912600-54930800	Weak transcription	Hela-S3	cervix

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