Variant report

Variant	rs612447
Chromosome Location	chr19:53131956-53131957
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1012531	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1012532	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1089757	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1089758	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1089762	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs365701	0.80[ASN][1000 genomes]
rs446825	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs507321	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs555278	0.81[ASN][1000 genomes]
rs585516	0.94[ASN][1000 genomes]
rs598692	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs657259	0.83[ASN][1000 genomes]
rs672333	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057296	chr19:52950339-53396986	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv833874	chr19:53058014-53257875	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv912305	chr19:53092465-53349850	Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv912306	chr19:53092465-53400760	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv912307	chr19:53092465-53433054	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv912308	chr19:53092465-53436337	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv912309	chr19:53092465-53440653	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv912310	chr19:53092465-53451291	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv828616	chr19:53095216-53137823	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv912311	chr19:53103875-53212361	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
11	nsv912312	chr19:53103875-53296371	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	nsv912313	chr19:53103875-53436337	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised 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	30 gene(s)	inside rSNPs	diseases
13	nsv912314	chr19:53105547-53144082	Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
14	nsv912315	chr19:53105547-53149967	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
15	nsv912316	chr19:53105547-53158023	Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
16	nsv912317	chr19:53105547-53440653	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
17	nsv1066762	chr19:53112568-53552217	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
18	nsv912318	chr19:53118278-53451291	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
19	nsv458744	chr19:53120559-53236331	Genic enhancers Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
20	nsv580028	chr19:53120559-53236331	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
21	esv3489404	chr19:53121944-53391394	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
22	esv3489405	chr19:53121944-53391394	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
23	nsv1066876	chr19:53123577-53157096	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs612447	ZNF83	cis	Whole Blood	GTEx

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53107000-53136600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:53117800-53140400	Weak transcription	Brain Substantia Nigra	brain
3	chr19:53117800-53140400	Weak transcription	Fetal Heart	heart
4	chr19:53118000-53140400	Weak transcription	Right Ventricle	heart
5	chr19:53118600-53132800	Strong transcription	Fetal Stomach	stomach
6	chr19:53119600-53132800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr19:53120400-53132000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr19:53120600-53132000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr19:53120600-53139800	Weak transcription	NHLF	lung
10	chr19:53121200-53140800	Weak transcription	HSMMtube	muscle
11	chr19:53121400-53132800	Strong transcription	Primary B cells from peripheral blood	blood
12	chr19:53121400-53132800	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr19:53121400-53140200	Weak transcription	NHDF-Ad	bronchial
14	chr19:53121400-53140400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr19:53121400-53140400	Weak transcription	Stomach Mucosa	stomach
16	chr19:53121400-53140400	Weak transcription	NH-A	brain
17	chr19:53121600-53132600	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr19:53121600-53140200	Weak transcription	HepG2	liver
19	chr19:53121600-53140800	Weak transcription	Brain Angular Gyrus	brain
20	chr19:53122000-53133000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr19:53122200-53132800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr19:53122200-53140400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr19:53123200-53132000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr19:53123200-53139600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr19:53123200-53140400	Weak transcription	Brain Anterior Caudate	brain
26	chr19:53123200-53140400	Weak transcription	HMEC	breast
27	chr19:53123400-53132200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr19:53124200-53132600	Strong transcription	Fetal Intestine Large	intestine
29	chr19:53124200-53132800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr19:53124600-53132800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
31	chr19:53124800-53136800	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr19:53125000-53140600	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr19:53126200-53140400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr19:53126200-53140400	Weak transcription	Colon Smooth Muscle	Colon
35	chr19:53126600-53140400	Weak transcription	Pancreas	Pancrea
36	chr19:53126600-53140400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr19:53127000-53140800	Weak transcription	Ovary	ovary
38	chr19:53127800-53138000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr19:53128000-53140200	Weak transcription	Fetal Kidney	kidney
40	chr19:53128400-53132200	Strong transcription	Lung	lung
41	chr19:53128400-53132400	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr19:53128400-53137400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr19:53128600-53136600	Weak transcription	Fetal Lung	lung
44	chr19:53128800-53140000	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr19:53129000-53132800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
46	chr19:53129000-53140200	Weak transcription	Brain Germinal Matrix	brain
47	chr19:53129000-53140600	Weak transcription	Stomach Smooth Muscle	stomach
48	chr19:53129200-53140200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr19:53129200-53140400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr19:53129200-53140400	Weak transcription	Fetal Thymus	thymus

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