Variant report

Variant	rs6508720
Chromosome Location	chr19:37906760-37906761
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11083424	0.86[EUR][1000 genomes]
rs2112921	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56917663	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61290534	0.84[AFR][1000 genomes]
rs6508718	0.81[AFR][1000 genomes]
rs7254780	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7255938	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7259321	0.82[EUR][1000 genomes]
rs8100308	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8109806	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv2757695	chr19:37794850-38051606	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv2758759	chr19:37794850-38051606	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1057688	chr19:37828019-37988253	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv579465	chr19:37868552-37917692	ZNF genes & repeats Strong transcription Weak transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv963044	chr19:37893588-37916743	ZNF genes & repeats Weak transcription Strong transcription Active TSS	lncRNA	n/a	inside rSNPs	diseases
7	nsv833819	chr19:37899501-38051599	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37898000-37910000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
2	chr19:37898000-37910400	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr19:37898000-37927000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr19:37898000-37956400	ZNF genes & repeats	Liver	Liver
5	chr19:37899200-37918800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr19:37900200-37927000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr19:37902400-37910000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr19:37903000-37908600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
9	chr19:37903000-37910200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
10	chr19:37903000-37910200	ZNF genes & repeats	Dnd41	blood
11	chr19:37903200-37925000	ZNF genes & repeats	Primary T cells from cord blood	blood
12	chr19:37903200-37927200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr19:37903200-37936600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr19:37903400-37936400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
15	chr19:37904400-37909200	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
16	chr19:37904800-37907800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr19:37905200-37907800	Weak transcription	Fetal Kidney	kidney
18	chr19:37905200-37908000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr19:37905200-37913000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr19:37905400-37907800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr19:37905400-37907800	Weak transcription	HSMM	muscle
22	chr19:37905600-37906800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr19:37905600-37906800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr19:37906000-37906800	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr19:37906000-37906800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr19:37906000-37907800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr19:37906400-37908800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
28	chr19:37906400-37910000	ZNF genes & repeats	Brain Hippocampus Middle	brain
29	chr19:37906400-37913000	ZNF genes & repeats	Aorta	Aorta
30	chr19:37906400-37914000	ZNF genes & repeats	Left Ventricle	heart
31	chr19:37906600-37908600	ZNF genes & repeats	Thymus	Thymus
32	chr19:37906600-37913800	ZNF genes & repeats	Ovary	ovary
33	chr19:37906600-37913800	ZNF genes & repeats	Psoas Muscle	Psoas

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