Variant report

Variant	rs73034922
Chromosome Location	chr19:38452448-38452449
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs17249138	0.80[AMR][1000 genomes]
rs17249336	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55752822	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55785437	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55813548	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55946812	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55974157	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55983118	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55994045	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56080901	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56184201	0.80[AMR][1000 genomes]
rs56207124	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56230664	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56246446	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56251160	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56252444	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56300335	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56676595	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6508755	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7245962	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7254248	0.84[EUR][1000 genomes]
rs7257266	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7258011	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73027472	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73027480	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73036634	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73036658	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7343065	0.88[EUR][1000 genomes]
rs8100199	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs73034922	ZNF781	cis	Thyroid	GTEx
rs73034922	AC012309.5	cis	Esophagus Mucosa	GTEx
rs73034922	AC012309.5	cis	Thyroid	GTEx
rs73034922	AC012309.5	cis	Artery Tibial	GTEx
rs73034922	AC012309.5	cis	Heart Left Ventricle	GTEx
rs73034922	AC012309.5	cis	Esophagus Muscularis	GTEx

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38425000-38454000	Weak transcription	HSMMtube	muscle
2	chr19:38430600-38453600	Weak transcription	Aorta	Aorta
3	chr19:38438400-38455600	Enhancers	Primary B cells from peripheral blood	blood
4	chr19:38439600-38453000	Weak transcription	Gastric	stomach
5	chr19:38441400-38456800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:38444000-38453200	Weak transcription	Pancreas	Pancrea
7	chr19:38444200-38453800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:38444600-38453600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr19:38444600-38456800	Weak transcription	Colonic Mucosa	Colon
10	chr19:38445200-38453200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr19:38445200-38453200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr19:38445200-38456400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr19:38445200-38456400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr19:38445400-38457000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr19:38445600-38453200	Weak transcription	Fetal Intestine Large	intestine
16	chr19:38446400-38456600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr19:38447000-38453200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr19:38448000-38453200	Weak transcription	Stomach Mucosa	stomach
19	chr19:38449800-38456800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr19:38450200-38453200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr19:38450400-38453200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr19:38450600-38453200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr19:38451000-38453200	Weak transcription	Duodenum Mucosa	Duodenum
24	chr19:38451000-38453200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr19:38451000-38453200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr19:38451000-38454000	Weak transcription	Ovary	ovary
27	chr19:38452000-38452600	Genic enhancers	Muscle Satellite Cultured Cells	--
28	chr19:38452000-38454800	Enhancers	NHDF-Ad	bronchial
29	chr19:38452200-38453000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr19:38452200-38453000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr19:38452200-38453600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr19:38452200-38453600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr19:38452200-38454000	Enhancers	HUVEC	blood vessel
34	chr19:38452200-38454000	Enhancers	Osteobl	bone
35	chr19:38452400-38452600	Weak transcription	Primary B cells from cord blood	blood
36	chr19:38452400-38453200	Weak transcription	A549	lung
37	chr19:38452400-38453200	Enhancers	GM12878-XiMat	blood
38	chr19:38452400-38453200	Weak transcription	NH-A	brain
39	chr19:38452400-38453400	Weak transcription	HSMM	muscle
40	chr19:38452400-38456600	Weak transcription	Primary T cells from cord blood	blood

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