Variant report

Variant	rs4565487
Chromosome Location	chr8:117649905-117649906
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	chr8:117648998..117651079-chr8:117652280..117654357,2	K562	blood:
2	chr8:117646178..117650015-chr8:117654709..117657673,3	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10464860	0.91[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs10955786	0.83[ASN][1000 genomes]
rs11988527	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12677487	0.87[ASN][1000 genomes]
rs17743459	0.90[ASN][1000 genomes]
rs17743495	0.87[ASN][1000 genomes]
rs17743585	0.90[ASN][1000 genomes]
rs17743793	0.84[ASN][1000 genomes]
rs17805619	0.90[ASN][1000 genomes]
rs2278491	0.91[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs67991519	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7003034	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73322464	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs73701316	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1020480	chr8:117630683-117652448	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4565487	TRPS1	cis	cerebellum	SCAN

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117636400-117670800	Weak transcription	Pancreas	Pancrea
2	chr8:117637400-117656600	Weak transcription	Aorta	Aorta
3	chr8:117640600-117662000	Weak transcription	Fetal Brain Female	brain
4	chr8:117641200-117665600	Weak transcription	Fetal Brain Male	brain
5	chr8:117642000-117655800	Weak transcription	Lung	lung
6	chr8:117642400-117654800	Weak transcription	Primary B cells from cord blood	blood
7	chr8:117642400-117656600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr8:117643800-117655600	Weak transcription	Left Ventricle	heart
9	chr8:117644000-117655400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:117644000-117655600	Weak transcription	Fetal Muscle Leg	muscle
11	chr8:117644000-117655600	Weak transcription	Fetal Stomach	stomach
12	chr8:117644000-117655800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:117644000-117656600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:117644000-117657600	Weak transcription	NHEK	skin
15	chr8:117644600-117655400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:117644800-117656200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr8:117646400-117650200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr8:117646600-117656600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr8:117647200-117677800	Weak transcription	Gastric	stomach
20	chr8:117647600-117654000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:117647600-117658400	Weak transcription	Brain Hippocampus Middle	brain
22	chr8:117647800-117655000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:117648000-117650800	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr8:117648000-117655400	Weak transcription	Primary T cells from cord blood	blood
25	chr8:117648000-117667400	Weak transcription	Fetal Heart	heart
26	chr8:117648400-117650200	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr8:117648800-117655200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr8:117648800-117655200	Weak transcription	GM12878-XiMat	blood
29	chr8:117649000-117651200	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr8:117649000-117670000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr8:117649000-117670400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr8:117649200-117655600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr8:117649400-117650200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr8:117649400-117655400	Weak transcription	Fetal Thymus	thymus
35	chr8:117649800-117650000	Enhancers	Brain Germinal Matrix	brain
36	chr8:117649800-117651000	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr8:117649800-117651400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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