Variant report

Variant	rs62121597
Chromosome Location	chr19:56974255-56974256
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11084448	0.87[ASN][1000 genomes]
rs12709959	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12979827	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12984960	0.87[ASN][1000 genomes]
rs17207432	0.89[AMR][1000 genomes]
rs17207481	0.89[AMR][1000 genomes]
rs2288862	0.84[ASN][1000 genomes]
rs2288863	0.87[ASN][1000 genomes]
rs28815239	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34403290	0.82[AMR][1000 genomes]
rs35215648	0.93[AMR][1000 genomes]
rs35520457	0.89[AMR][1000 genomes]
rs36147582	0.89[AMR][1000 genomes]
rs4239475	0.82[ASN][1000 genomes]
rs4801159	0.87[ASN][1000 genomes]
rs4801160	0.87[ASN][1000 genomes]
rs4801161	0.87[ASN][1000 genomes]
rs4801318	0.87[ASN][1000 genomes]
rs62121591	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62121592	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62121594	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7253851	0.87[ASN][1000 genomes]
rs8113270	0.84[AMR][1000 genomes]
rs9646635	0.89[AMR][1000 genomes]
rs9749084	0.89[AMR][1000 genomes]
rs9749115	0.84[AMR][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
rs62121597	ZNF582-AS1	cis	Artery Tibial	GTEx

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56957200-56987400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr19:56957400-56976800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
3	chr19:56957400-56985000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
4	chr19:56957400-56987400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
5	chr19:56957400-56987400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:56965800-56977400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
7	chr19:56966400-56975200	ZNF genes & repeats	Liver	Liver
8	chr19:56966400-56979800	ZNF genes & repeats	Ovary	ovary
9	chr19:56967200-56987600	Weak transcription	Fetal Heart	heart
10	chr19:56969400-56987600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr19:56969600-56975600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr19:56970000-56975800	ZNF genes & repeats	Fetal Stomach	stomach
13	chr19:56970200-56981400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr19:56971600-56974600	ZNF genes & repeats	Pancreas	Pancrea
15	chr19:56971800-56974600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr19:56972000-56974600	ZNF genes & repeats	Esophagus	oesophagus
17	chr19:56972600-56974800	ZNF genes & repeats	Adipose Nuclei	Adipose
18	chr19:56972800-56974400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
19	chr19:56972800-56974400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr19:56972800-56974600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
21	chr19:56972800-56974800	ZNF genes & repeats	Rectal Smooth Muscle	rectum
22	chr19:56972800-56987600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr19:56973000-56974400	ZNF genes & repeats	Fetal Brain Female	brain
24	chr19:56973000-56974800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr19:56973000-56981400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr19:56973000-56981600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr19:56973200-56974600	Strong transcription	Skeletal Muscle Male	skeletal muscle
28	chr19:56973200-56975000	ZNF genes & repeats	Fetal Intestine Large	intestine
29	chr19:56973200-56981000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr19:56973400-56974600	Strong transcription	Brain Angular Gyrus	brain
31	chr19:56973400-56981600	Weak transcription	Psoas Muscle	Psoas
32	chr19:56973400-56983600	Weak transcription	Dnd41	blood
33	chr19:56973600-56974400	ZNF genes & repeats	Fetal Muscle Leg	muscle
34	chr19:56973600-56981800	Weak transcription	Left Ventricle	heart
35	chr19:56973800-56974400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
36	chr19:56973800-56974600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr19:56973800-56976600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr19:56974000-56974400	ZNF genes & repeats	Brain Anterior Caudate	brain
39	chr19:56974000-56974600	ZNF genes & repeats	Brain Germinal Matrix	brain
40	chr19:56974000-56975400	Weak transcription	Colon Smooth Muscle	Colon
41	chr19:56974000-56975800	Weak transcription	Primary T cells from cord blood	blood
42	chr19:56974000-56975800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr19:56974000-56975800	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr19:56974000-56976000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr19:56974000-56981000	Weak transcription	Fetal Muscle Trunk	muscle
46	chr19:56974000-56981400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr19:56974000-56981600	Weak transcription	Right Ventricle	heart
48	chr19:56974200-56974400	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
49	chr19:56974200-56974800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr19:56974200-56975600	Weak transcription	Brain Cingulate Gyrus	brain

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