Variant report

Variant	rs60732696
Chromosome Location	chr19:56982610-56982611
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10404523	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10408921	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10410530	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10413986	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10423274	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3760848	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4801322	0.83[ASN][1000 genomes]
rs66718632	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7258501	0.83[ASN][1000 genomes]
rs8112950	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
rs60732696	ZNF667	cis	Nerve Tibial	GTEx

Chromatin state (count:67 , 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	chr19:56957400-56985000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
3	chr19:56957400-56987400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
4	chr19:56957400-56987400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:56967200-56987600	Weak transcription	Fetal Heart	heart
6	chr19:56969400-56987600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr19:56972800-56987600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr19:56973400-56983600	Weak transcription	Dnd41	blood
9	chr19:56975600-56985200	ZNF genes & repeats	Brain Germinal Matrix	brain
10	chr19:56975600-56987200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr19:56976800-56987200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr19:56978000-56984400	ZNF genes & repeats	Adipose Nuclei	Adipose
13	chr19:56979800-56985000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
14	chr19:56980000-56986000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
15	chr19:56980200-56984000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
16	chr19:56980200-56984000	ZNF genes & repeats	Fetal Stomach	stomach
17	chr19:56980200-56985000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
18	chr19:56980400-56983800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr19:56980400-56984000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr19:56980400-56985800	ZNF genes & repeats	Fetal Intestine Small	intestine
21	chr19:56980400-56987200	ZNF genes & repeats	Fetal Brain Female	brain
22	chr19:56981000-56984000	Strong transcription	Brain Anterior Caudate	brain
23	chr19:56981000-56984200	Strong transcription	Fetal Muscle Trunk	muscle
24	chr19:56981000-56984800	ZNF genes & repeats	Fetal Intestine Large	intestine
25	chr19:56981000-56987600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
26	chr19:56981000-56988000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
27	chr19:56981200-56983400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr19:56981200-56983800	ZNF genes & repeats	Stomach Smooth Muscle	stomach
29	chr19:56981200-56985200	ZNF genes & repeats	Aorta	Aorta
30	chr19:56981200-56985600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr19:56981400-56982800	ZNF genes & repeats	Lung	lung
32	chr19:56981400-56983000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr19:56981400-56983800	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr19:56981400-56983800	ZNF genes & repeats	Brain Substantia Nigra	brain
35	chr19:56981400-56984000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr19:56981400-56984200	Strong transcription	HSMMtube	muscle
37	chr19:56981400-56985400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr19:56981400-56986000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
39	chr19:56981400-56987600	ZNF genes & repeats	Ovary	ovary
40	chr19:56981600-56983400	Strong transcription	Brain Angular Gyrus	brain
41	chr19:56981600-56983800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
42	chr19:56981600-56984000	Strong transcription	Right Ventricle	heart
43	chr19:56981600-56984400	ZNF genes & repeats	Primary B cells from cord blood	blood
44	chr19:56981600-56984400	Strong transcription	Placenta Amnion	Placenta Amnion
45	chr19:56981600-56984600	Strong transcription	Psoas Muscle	Psoas
46	chr19:56981600-56985200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
47	chr19:56981800-56983600	Strong transcription	Fetal Kidney	kidney
48	chr19:56981800-56983600	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr19:56982000-56983200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr19:56982000-56984800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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