Variant report

Variant	rs8026172
Chromosome Location	chr15:56125182-56125183
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1042477	0.95[CHB][hapmap];0.90[JPT][hapmap];0.84[YRI][hapmap];0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10851599	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11071228	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11071231	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11630780	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11632096	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11632977	0.84[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs11633263	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11633313	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12102014	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12102020	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12232351	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12898589	0.97[ASN][1000 genomes]
rs12910830	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13380185	0.97[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1509406	0.95[CEU][hapmap]
rs16976585	0.89[ASN][1000 genomes]
rs16976600	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1912398	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1912402	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2288344	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2288345	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2414444	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs28660477	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35040841	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56333939	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60482539	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60890210	0.87[ASN][1000 genomes]
rs66462353	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs67505007	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7162435	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7175686	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7176225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7179116	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7182397	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72732282	0.82[EUR][1000 genomes]
rs8024944	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8028559	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8029247	0.96[CEU][hapmap]
rs8032158	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	esv3366380	chr15:56003224-56141650	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8026172	PRTG	cis	Artery Tibial	GTEx

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56095800-56128600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:56106000-56131200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr15:56112600-56133600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr15:56114600-56128200	Weak transcription	Esophagus	oesophagus
5	chr15:56115400-56148000	Weak transcription	Ovary	ovary
6	chr15:56115800-56129800	Weak transcription	Hela-S3	cervix
7	chr15:56116400-56129000	Weak transcription	NHLF	lung
8	chr15:56116400-56129600	Weak transcription	NHDF-Ad	bronchial
9	chr15:56116400-56133400	Weak transcription	Fetal Lung	lung
10	chr15:56116600-56150600	Weak transcription	Right Ventricle	heart
11	chr15:56116800-56162200	Weak transcription	Fetal Heart	heart
12	chr15:56117600-56131200	Weak transcription	Small Intestine	intestine
13	chr15:56118000-56125800	Strong transcription	HSMM	muscle
14	chr15:56118600-56151000	Weak transcription	Fetal Kidney	kidney
15	chr15:56118800-56147000	Weak transcription	Gastric	stomach
16	chr15:56118800-56149200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr15:56118800-56151400	Weak transcription	Brain Anterior Caudate	brain
18	chr15:56119200-56133000	Weak transcription	Primary T cells from cord blood	blood
19	chr15:56119400-56134800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr15:56120000-56125600	Strong transcription	Muscle Satellite Cultured Cells	--
21	chr15:56120000-56126200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr15:56120000-56136800	Strong transcription	Liver	Liver
23	chr15:56120000-56144800	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr15:56120000-56147800	Weak transcription	HepG2	liver
25	chr15:56120200-56125600	Strong transcription	NH-A	brain
26	chr15:56120200-56125800	Strong transcription	Skeletal Muscle Male	skeletal muscle
27	chr15:56120200-56126400	Strong transcription	Osteobl	bone
28	chr15:56120600-56127600	Weak transcription	Lung	lung
29	chr15:56120600-56146600	Weak transcription	Pancreas	Pancrea
30	chr15:56120800-56126600	Weak transcription	Psoas Muscle	Psoas
31	chr15:56120800-56147200	Weak transcription	Thymus	Thymus
32	chr15:56121200-56147200	Weak transcription	Spleen	Spleen
33	chr15:56121600-56126400	Strong transcription	Placenta	Placenta
34	chr15:56121800-56125200	Strong transcription	Fetal Muscle Leg	muscle
35	chr15:56121800-56126200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr15:56121800-56126200	Strong transcription	HSMMtube	muscle
37	chr15:56121800-56135600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr15:56122000-56125200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr15:56122000-56136600	Strong transcription	Fetal Intestine Large	intestine
40	chr15:56122200-56125200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr15:56122200-56125200	Strong transcription	Duodenum Mucosa	Duodenum
42	chr15:56122200-56129000	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr15:56122200-56135400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr15:56122200-56136000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr15:56122400-56128000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr15:56122400-56136800	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr15:56122400-56145200	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr15:56122600-56134200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr15:56122600-56152000	Weak transcription	Fetal Thymus	thymus
50	chr15:56122600-56153800	Weak transcription	Primary T cells fromperipheralblood	blood

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