Variant report

Variant	rs8028950
Chromosome Location	chr15:34466687-34466688
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10775222	0.92[ASN][1000 genomes]
rs10851950	0.96[ASN][1000 genomes]
rs11072998	0.90[ASN][1000 genomes]
rs11636442	0.92[ASN][1000 genomes]
rs11852537	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11854686	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11857205	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11857684	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12591181	0.87[ASN][1000 genomes]
rs12594077	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16958829	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16958848	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1836977	0.85[ASN][1000 genomes]
rs1836978	0.95[ASN][1000 genomes]
rs1978810	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2339368	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2339369	0.90[ASN][1000 genomes]
rs28538047	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28652966	0.83[ASN][1000 genomes]
rs28768700	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28813796	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4780226	0.96[ASN][1000 genomes]
rs56731918	0.85[ASN][1000 genomes]
rs57530092	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57699120	0.85[ASN][1000 genomes]
rs57715967	0.82[ASN][1000 genomes]
rs58875083	0.85[ASN][1000 genomes]
rs59635553	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60749797	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6495558	0.82[ASN][1000 genomes]
rs6495580	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7172480	0.83[ASN][1000 genomes]
rs7172633	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7173244	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7174442	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7174586	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7175168	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7178203	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7178988	0.85[ASN][1000 genomes]
rs7181687	0.85[ASN][1000 genomes]
rs7181902	0.85[ASN][1000 genomes]
rs73376164	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73376178	0.82[ASN][1000 genomes]
rs73376181	0.82[ASN][1000 genomes]
rs73376192	0.82[ASN][1000 genomes]
rs73376193	0.82[ASN][1000 genomes]
rs73376196	0.82[ASN][1000 genomes]
rs73378126	0.85[ASN][1000 genomes]
rs73378128	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73378138	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73378141	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73378144	0.84[ASN][1000 genomes]
rs7497840	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7497951	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8025406	0.96[ASN][1000 genomes]
rs8025730	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8026939	0.83[ASN][1000 genomes]
rs8027830	0.85[ASN][1000 genomes]
rs8028932	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8031102	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8034315	0.85[ASN][1000 genomes]
rs8035493	0.92[ASN][1000 genomes]
rs8036791	0.85[ASN][1000 genomes]
rs8040732	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8040861	0.92[ASN][1000 genomes]
rs8043216	0.81[ASN][1000 genomes]
rs9920654	0.96[ASN][1000 genomes]
rs9972505	0.85[ASN][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	nsv1035579	chr15:34363159-34501115	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	esv3507159	chr15:34456709-34485891	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
3	esv3507160	chr15:34456709-34485891	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8028950	NOP10	cis	Thyroid	GTEx

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34453600-34474600	Weak transcription	Colon Smooth Muscle	Colon
2	chr15:34454000-34477400	Weak transcription	HSMM	muscle
3	chr15:34454200-34497800	Weak transcription	Osteobl	bone
4	chr15:34454600-34501200	Weak transcription	Colonic Mucosa	Colon
5	chr15:34454800-34501000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr15:34458800-34466800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr15:34459000-34478400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr15:34464600-34500400	Weak transcription	Hela-S3	cervix
9	chr15:34464800-34466800	ZNF genes & repeats	Primary B cells from cord blood	blood
10	chr15:34464800-34477000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr15:34465000-34467000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr15:34465000-34477800	Weak transcription	Thymus	Thymus
13	chr15:34465600-34468000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
14	chr15:34465800-34466800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr15:34466200-34467000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr15:34466400-34466800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr15:34466400-34466800	Weak transcription	Lung	lung
18	chr15:34466400-34468000	ZNF genes & repeats	Fetal Lung	lung
19	chr15:34466400-34500400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr15:34466600-34467000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
21	chr15:34466600-34467000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr15:34466600-34473400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr15:34466600-34482800	Weak transcription	NHDF-Ad	bronchial

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