Variant report

Variant	rs692343
Chromosome Location	chr19:39564486-39564487
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10407957	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10408661	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12151180	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2569365	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34738600	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs377373	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs380679	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs384605	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs385681	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs392005	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs392135	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs393559	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs395387	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs396616	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs397189	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs400011	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs420682	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs426076	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs452666	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs453853	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4802015	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4803196	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4803197	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs482679	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs487456	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs578940	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs597995	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs602744	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs609327	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs620642	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs621580	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs648192	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs648635	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs665998	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs690812	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs691059	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs691114	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs691256	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs691266	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs691391	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs691890	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs692294	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs692347	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs774727	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs774927	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs774928	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458571	chr19:39533754-39628050	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv579508	chr19:39533754-39628050	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv522530	chr19:39552150-39573918	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39562000-39570000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr19:39563000-39565200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr19:39563000-39565600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr19:39563000-39565800	Enhancers	Primary T cells fromperipheralblood	blood
5	chr19:39563200-39564600	Enhancers	Placenta	Placenta
6	chr19:39563200-39565200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr19:39563200-39565200	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr19:39563200-39565400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr19:39563200-39565400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr19:39563200-39565400	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr19:39563200-39565400	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr19:39563600-39565200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr19:39563600-39565400	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr19:39563800-39564800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr19:39563800-39565000	Enhancers	Primary T cells from cord blood	blood
16	chr19:39563800-39565000	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr19:39563800-39565200	Enhancers	Primary hematopoietic stem cells	blood
18	chr19:39563800-39565200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr19:39563800-39565200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr19:39563800-39565200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr19:39563800-39565200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr19:39563800-39565200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr19:39563800-39565200	Enhancers	Hela-S3	cervix
24	chr19:39563800-39565200	Enhancers	HMEC	breast
25	chr19:39563800-39565200	Enhancers	NHEK	skin
26	chr19:39563800-39565200	Enhancers	Osteobl	bone
27	chr19:39563800-39565400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr19:39563800-39565400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr19:39563800-39565800	Enhancers	HUVEC	blood vessel
30	chr19:39564000-39564600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr19:39564000-39564600	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr19:39564000-39565000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr19:39564000-39565200	Enhancers	Muscle Satellite Cultured Cells	--
34	chr19:39564000-39565800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr19:39564200-39564600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr19:39564200-39564600	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr19:39564200-39564600	Enhancers	Dnd41	blood
38	chr19:39564200-39564800	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr19:39564200-39565000	Enhancers	HepG2	liver
40	chr19:39564200-39565200	Flanking Active TSS	A549	lung
41	chr19:39564200-39565200	Enhancers	NHDF-Ad	bronchial
42	chr19:39564200-39565400	Enhancers	NH-A	brain
43	chr19:39564400-39564600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr19:39564400-39564600	Strong transcription	Brain Hippocampus Middle	brain
45	chr19:39564400-39564600	Bivalent Enhancer	Brain Substantia Nigra	brain
46	chr19:39564400-39564600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
47	chr19:39564400-39564800	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr19:39564400-39564800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr19:39564400-39565200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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