Variant report

Variant	rs10851599
Chromosome Location	chr15:56154064-56154065
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	chr15:56142489..56144203-chr15:56152079..56154618,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11071228	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11071231	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11632096	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11632295	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11633263	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11633313	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11636123	0.83[EUR][1000 genomes]
rs11637576	0.83[EUR][1000 genomes]
rs12102014	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12102020	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12232351	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12595359	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13380185	0.83[AFR][1000 genomes]
rs1509406	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16976600	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1912398	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1912402	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2089635	0.81[EUR][1000 genomes]
rs2089636	0.81[EUR][1000 genomes]
rs2102465	0.80[EUR][1000 genomes]
rs2288344	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28660477	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28770330	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28778631	0.83[EUR][1000 genomes]
rs28863270	0.83[EUR][1000 genomes]
rs56333939	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60482539	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs66462353	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67505007	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7162435	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7175686	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7176225	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7179116	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7182397	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72732282	0.85[EUR][1000 genomes]
rs8024944	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8026172	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8027843	0.82[CHB][hapmap]
rs8028559	0.81[EUR][1000 genomes]
rs8032158	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8038884	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9920158	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9920159	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9920184	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv457157	chr15:55722213-56255774	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv569539	chr15:55722213-56255774	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv833017	chr15:55965957-56157912	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10851599	PRTG	cis	Artery Tibial	GTEx

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56116800-56162200	Weak transcription	Fetal Heart	heart
2	chr15:56122600-56154800	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr15:56122600-56156600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr15:56122800-56156000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr15:56127200-56155400	Strong transcription	Osteobl	bone
6	chr15:56127200-56155800	Strong transcription	HSMM	muscle
7	chr15:56129000-56157400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr15:56132000-56164800	Weak transcription	Small Intestine	intestine
9	chr15:56133600-56154400	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr15:56134400-56156600	Weak transcription	Colon Smooth Muscle	Colon
11	chr15:56135000-56156600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr15:56138200-56161800	Weak transcription	K562	blood
13	chr15:56138600-56154400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr15:56139400-56155400	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr15:56140200-56155600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr15:56142800-56155400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr15:56145800-56155400	Strong transcription	Fetal Intestine Large	intestine
18	chr15:56146200-56155000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr15:56146400-56155600	Strong transcription	Liver	Liver
20	chr15:56147200-56154800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr15:56148000-56160400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr15:56148200-56154400	Weak transcription	Thymus	Thymus
23	chr15:56148200-56155000	Weak transcription	Pancreas	Pancrea
24	chr15:56148200-56174400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr15:56148800-56161800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr15:56149000-56163600	Weak transcription	Gastric	stomach
27	chr15:56149000-56164800	Weak transcription	Aorta	Aorta
28	chr15:56149000-56177600	Weak transcription	Spleen	Spleen
29	chr15:56149400-56154400	Strong transcription	A549	lung
30	chr15:56150000-56154400	Strong transcription	NH-A	brain
31	chr15:56150000-56155400	Strong transcription	Placenta	Placenta
32	chr15:56150200-56154400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr15:56150200-56154400	Strong transcription	NHDF-Ad	bronchial
34	chr15:56150400-56155400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr15:56150400-56155600	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr15:56150600-56154600	Strong transcription	Skeletal Muscle Male	skeletal muscle
37	chr15:56151000-56154200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr15:56152000-56155200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr15:56152400-56154800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr15:56152400-56156600	Weak transcription	Fetal Kidney	kidney
41	chr15:56152400-56164800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr15:56152600-56155400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr15:56152800-56154400	Weak transcription	Fetal Lung	lung
44	chr15:56152800-56154400	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr15:56152800-56155800	Weak transcription	Fetal Thymus	thymus
46	chr15:56152800-56165000	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr15:56152800-56174600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr15:56153000-56154600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr15:56153000-56154600	Weak transcription	Fetal Muscle Leg	muscle
50	chr15:56153000-56154600	Weak transcription	Rectal Mucosa Donor 29	rectum

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