Variant report

Variant	rs8112318
Chromosome Location	chr19:53679571-53679572
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12460704	0.93[ASN][1000 genomes]
rs4289099	1.00[ASN][1000 genomes]
rs4801959	0.91[EUR][1000 genomes]
rs6509729	0.82[EUR][1000 genomes]
rs6509730	0.89[ASN][1000 genomes]
rs8100921	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs8111924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530807	chr19:53210488-53695881	Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers 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	43 gene(s)	inside rSNPs	diseases
2	esv3326632	chr19:53371248-53697569	Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1065143	chr19:53507142-53853363	Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv544063	chr19:53507142-53853363	ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv1058019	chr19:53507142-53904508	ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers 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	39 gene(s)	inside rSNPs	diseases
6	nsv544064	chr19:53507142-53904508	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
7	nsv912342	chr19:53581151-54010759	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv1063630	chr19:53591444-54419183	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	282 gene(s)	inside rSNPs	diseases
9	nsv1055378	chr19:53603268-53951855	Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
10	nsv544065	chr19:53603268-53951855	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
11	nsv912350	chr19:53636016-53687818	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv912351	chr19:53655493-53702508	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	esv2762999	chr19:53665818-53709353	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv960867	chr19:53677686-53681542	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53664800-53695400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr19:53668800-53683000	Weak transcription	Pancreas	Pancrea
3	chr19:53669400-53685800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr19:53669400-53695600	Weak transcription	Brain Germinal Matrix	brain
5	chr19:53669600-53682800	Weak transcription	Left Ventricle	heart
6	chr19:53669600-53682800	Weak transcription	Osteobl	bone
7	chr19:53670000-53695400	Weak transcription	Right Ventricle	heart
8	chr19:53670200-53695200	Weak transcription	Fetal Brain Female	brain
9	chr19:53670600-53682800	Weak transcription	Dnd41	blood
10	chr19:53672200-53686400	Weak transcription	Colon Smooth Muscle	Colon
11	chr19:53673600-53688200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr19:53674000-53681000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr19:53674000-53682800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr19:53674000-53695400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr19:53674000-53695600	Weak transcription	Brain Angular Gyrus	brain
16	chr19:53674000-53695600	Weak transcription	Brain Anterior Caudate	brain
17	chr19:53674200-53693600	Weak transcription	Brain Hippocampus Middle	brain
18	chr19:53674200-53693600	Weak transcription	Fetal Muscle Leg	muscle
19	chr19:53675200-53682400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr19:53676600-53693600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr19:53677000-53681600	ZNF genes & repeats	Primary B cells from cord blood	blood
22	chr19:53677200-53685800	Weak transcription	Fetal Stomach	stomach
23	chr19:53677400-53682800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr19:53677400-53685000	Weak transcription	Placenta	Placenta
25	chr19:53677600-53682600	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr19:53677600-53682600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr19:53677600-53682800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr19:53677600-53682800	Weak transcription	Adipose Nuclei	Adipose
29	chr19:53677600-53683000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr19:53677600-53686400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr19:53677600-53695600	Weak transcription	Fetal Lung	lung
32	chr19:53677800-53682000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr19:53677800-53682600	Weak transcription	Ovary	ovary
34	chr19:53678000-53682000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr19:53678000-53682000	Weak transcription	NHDF-Ad	bronchial
36	chr19:53678000-53682600	Weak transcription	Thymus	Thymus
37	chr19:53678800-53695800	Weak transcription	Aorta	Aorta
38	chr19:53679200-53683000	Weak transcription	Primary T cells from cord blood	blood

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