Variant report

Variant	rs62107593
Chromosome Location	chr19:40792926-40792927
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:40781762-40793937	PANC-1	pancreas:	n/a	n/a
2	SIN3AK20	chr19:40787407-40793117	PANC-1	pancreas:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:40791790..40793403-chr19:40794499..40796006,2	K562	blood:
2	chr19:40789879..40793059-chr19:40870323..40872928,3	K562	blood:
3	chr19:40746630..40748490-chr19:40790537..40793116,2	MCF-7	breast:
4	chr19:40791701..40793246-chr19:40980177..40982269,2	K562	blood:
5	chr19:40790365..40793125-chr19:40949596..40951580,2	K562	blood:

No data

Variant related genes	Relation type
AKT2	TF binding region
MIR641	TF binding region
ENSG00000105221	Chromatin interaction
ENSG00000105223	Chromatin interaction
ENSG00000167565	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10408356	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10415181	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10416620	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10418932	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10419465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10420842	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10422343	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10423896	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12151243	0.89[EUR][1000 genomes]
rs16974157	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2163840	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2304188	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28362958	0.93[ASN][1000 genomes]
rs28667591	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34716810	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55862427	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57885763	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58336440	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58613082	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59010363	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59343080	0.84[ASN][1000 genomes]
rs60869669	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61685259	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62107590	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62107594	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62107630	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62107631	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7247916	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7248861	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7254617	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73044533	0.88[ASN][1000 genomes]
rs8100207	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8111619	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8112998	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs892118	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs892119	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs892120	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9304588	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9304589	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs934426	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv2758499	chr19:40612420-40839520	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv2758761	chr19:40612420-40839520	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv911699	chr19:40691632-40816530	Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	esv1833489	chr19:40722123-40923908	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40791600-40793000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr19:40792000-40793000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr19:40792000-40793000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr19:40792000-40793000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr19:40792000-40793000	Enhancers	Fetal Kidney	kidney
6	chr19:40792000-40793000	Enhancers	A549	lung
7	chr19:40792000-40793000	Enhancers	NHLF	lung
8	chr19:40792000-40793200	Enhancers	Primary hematopoietic stem cells	blood
9	chr19:40792000-40793200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr19:40792000-40793200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr19:40792000-40793200	Enhancers	Fetal Stomach	stomach
12	chr19:40792000-40793200	Enhancers	Fetal Thymus	thymus
13	chr19:40792000-40793200	Enhancers	K562	blood
14	chr19:40792000-40793800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr19:40792000-40802600	Weak transcription	Fetal Brain Female	brain
16	chr19:40792000-40807600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr19:40792000-40811400	Weak transcription	Brain Anterior Caudate	brain
18	chr19:40792000-40826200	Weak transcription	Hela-S3	cervix
19	chr19:40792200-40793000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr19:40792200-40793000	Weak transcription	Thymus	Thymus
21	chr19:40792200-40793200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:40792200-40793200	Enhancers	Primary B cells from cord blood	blood
23	chr19:40792200-40793200	Enhancers	Primary B cells from peripheral blood	blood
24	chr19:40792200-40793200	Enhancers	Placenta	Placenta
25	chr19:40792200-40795800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr19:40792200-40807600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr19:40792200-40810200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr19:40792200-40821400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr19:40792200-40821400	Weak transcription	Fetal Intestine Small	intestine
30	chr19:40792400-40793000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr19:40792400-40793000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr19:40792400-40793000	Enhancers	Fetal Muscle Leg	muscle
33	chr19:40792400-40793000	Flanking Active TSS	NHDF-Ad	bronchial
34	chr19:40792400-40802200	Weak transcription	Fetal Muscle Trunk	muscle
35	chr19:40792600-40793000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr19:40792600-40793000	Enhancers	GM12878-XiMat	blood
37	chr19:40792600-40793000	Enhancers	HepG2	liver
38	chr19:40792600-40793200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr19:40792600-40793200	Enhancers	Dnd41	blood
40	chr19:40792600-40793200	Enhancers	HSMM	muscle
41	chr19:40792600-40794800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr19:40792800-40793000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr19:40792800-40793000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr19:40792800-40793000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr19:40792800-40793000	Enhancers	Adipose Nuclei	Adipose
46	chr19:40792800-40793000	Enhancers	Stomach Smooth Muscle	stomach
47	chr19:40792800-40793200	Enhancers	Fetal Lung	lung

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