Variant report

Variant	rs62121591
Chromosome Location	chr19:56957811-56957812
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11084447	0.88[ASN][1000 genomes]
rs11084448	0.97[ASN][1000 genomes]
rs12709959	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12979827	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12984960	0.97[ASN][1000 genomes]
rs2215410	0.88[ASN][1000 genomes]
rs2288862	0.93[ASN][1000 genomes]
rs2288863	0.97[ASN][1000 genomes]
rs28815239	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4239475	0.91[ASN][1000 genomes]
rs4801159	0.97[ASN][1000 genomes]
rs4801160	0.97[ASN][1000 genomes]
rs4801161	0.97[ASN][1000 genomes]
rs4801316	0.88[ASN][1000 genomes]
rs4801318	0.97[ASN][1000 genomes]
rs4801720	0.88[ASN][1000 genomes]
rs62121592	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs62121594	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs62121597	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6509995	0.88[ASN][1000 genomes]
rs7253851	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912516	chr19:56601298-56981382	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases
2	nsv949121	chr19:56754719-57591038	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
3	nsv1062341	chr19:56794070-57273332	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
4	nsv544094	chr19:56794070-57273332	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
5	nsv1056713	chr19:56799151-57265682	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
6	nsv544095	chr19:56799151-57265682	Strong transcription ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
7	nsv580385	chr19:56918598-57072433	ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv1057240	chr19:56919831-57153659	Flanking Active TSS Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv544097	chr19:56919831-57153659	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
10	nsv580386	chr19:56924761-57072433	Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
11	nsv1055357	chr19:56933632-57190007	ZNF genes & repeats Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62121591	ZNF582-AS1	cis	Artery Tibial	GTEx

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56951600-56958400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr19:56954200-56958200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr19:56955200-56960000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr19:56955600-56959600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr19:56955800-56959600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr19:56956000-56958800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr19:56957200-56962200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr19:56957200-56987400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr19:56957400-56958400	ZNF genes & repeats	Dnd41	blood
10	chr19:56957400-56960800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
11	chr19:56957400-56960800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr19:56957400-56960800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr19:56957400-56960800	ZNF genes & repeats	Brain Anterior Caudate	brain
14	chr19:56957400-56960800	ZNF genes & repeats	Brain Cingulate Gyrus	brain
15	chr19:56957400-56960800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
16	chr19:56957400-56960800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
17	chr19:56957400-56960800	ZNF genes & repeats	Stomach Smooth Muscle	stomach
18	chr19:56957400-56961600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
19	chr19:56957400-56961600	ZNF genes & repeats	Brain Angular Gyrus	brain
20	chr19:56957400-56961800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
21	chr19:56957400-56961800	ZNF genes & repeats	Brain Germinal Matrix	brain
22	chr19:56957400-56962000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr19:56957400-56962000	ZNF genes & repeats	Fetal Brain Female	brain
24	chr19:56957400-56963000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
25	chr19:56957400-56963000	ZNF genes & repeats	Fetal Brain Male	brain
26	chr19:56957400-56963000	ZNF genes & repeats	Fetal Kidney	kidney
27	chr19:56957400-56963200	ZNF genes & repeats	Fetal Lung	lung
28	chr19:56957400-56964000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr19:56957400-56964200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
30	chr19:56957400-56968000	ZNF genes & repeats	Brain Hippocampus Middle	brain
31	chr19:56957400-56974200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
32	chr19:56957400-56976800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
33	chr19:56957400-56985000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
34	chr19:56957400-56987400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
35	chr19:56957400-56987400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr19:56957600-56958000	Active TSS	Aorta	Aorta
37	chr19:56957600-56958400	ZNF genes & repeats	Right Ventricle	heart
38	chr19:56957600-56958400	ZNF genes & repeats	HSMMtube	muscle
39	chr19:56957600-56959000	ZNF genes & repeats	Psoas Muscle	Psoas
40	chr19:56957600-56960600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
41	chr19:56957600-56960600	ZNF genes & repeats	Primary T cells from cord blood	blood
42	chr19:56957600-56960800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
43	chr19:56957600-56961000	ZNF genes & repeats	Brain Substantia Nigra	brain
44	chr19:56957600-56961000	ZNF genes & repeats	Fetal Muscle Leg	muscle
45	chr19:56957600-56961200	ZNF genes & repeats	Fetal Muscle Trunk	muscle
46	chr19:56957600-56961600	ZNF genes & repeats	Liver	Liver
47	chr19:56957600-56961600	ZNF genes & repeats	Colon Smooth Muscle	Colon
48	chr19:56957600-56962200	ZNF genes & repeats	Adipose Nuclei	Adipose
49	chr19:56957600-56962200	ZNF genes & repeats	Ovary	ovary
50	chr19:56957800-56958400	ZNF genes & repeats	Small Intestine	intestine

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