Variant report

Variant	rs34716810
Chromosome Location	chr19:40792589-40792590
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF7L2	chr19:40790954-40792664	PANC-1	pancreas:	n/a	chr19:40791604-40791618 chr19:40791607-40791617 chr19:40791603-40791619 chr19:40791604-40791618 chr19:40791603-40791619 chr19:40791607-40791616
2	MAFK	chr19:40792462-40792589	HepG2	liver:	n/a	n/a
3	POLR2A	chr19:40781762-40793937	PANC-1	pancreas:	n/a	n/a
4	MAZ	chr19:40790169-40792650	IMR90	lung:	n/a	chr19:40791049-40791059
5	SIN3AK20	chr19:40787407-40793117	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:40695407..40698481-chr19:40788292..40792778,5	K562	blood:
2	chr19:40791790..40793403-chr19:40794499..40796006,2	K562	blood:
3	chr19:40791054..40792631-chr19:40929438..40932083,2	K562	blood:
4	chr19:40789879..40793059-chr19:40870323..40872928,3	K562	blood:
5	chr19:40746630..40748490-chr19:40790537..40793116,2	MCF-7	breast:
6	chr19:40791701..40793246-chr19:40980177..40982269,2	K562	blood:
7	chr19:40790880..40792731-chr19:40929438..40932853,4	K562	blood:
8	chr19:40790365..40793125-chr19:40949596..40951580,2	K562	blood:

Variant related genes	Relation type
AKT2	TF binding region
MIR641	TF binding region
ENSG00000105223	Chromatin interaction
ENSG00000197019	Chromatin interaction
ENSG00000130758	Chromatin interaction
ENSG00000105221	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	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10416620	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10418932	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10419465	0.99[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]
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]
rs62107593	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62107594	0.93[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	0.99[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	0.94[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	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9304589	0.95[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:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40790400-40792600	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr19:40790800-40792600	Active TSS	Colonic Mucosa	Colon
3	chr19:40791600-40792600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr19:40791600-40792600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr19:40791600-40792600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:40791600-40792600	Flanking Active TSS	Dnd41	blood
7	chr19:40791600-40792800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
8	chr19:40791600-40792800	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr19:40791600-40792800	Flanking Active TSS	Fetal Lung	lung
10	chr19:40791600-40793000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr19:40792000-40792600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr19:40792000-40792600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr19:40792000-40792600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr19:40792000-40792600	Enhancers	Primary T cells from cord blood	blood
15	chr19:40792000-40792600	Enhancers	Primary T cells fromperipheralblood	blood
16	chr19:40792000-40792600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr19:40792000-40792600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr19:40792000-40792600	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr19:40792000-40792600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr19:40792000-40792600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr19:40792000-40792600	Enhancers	Brain Cingulate Gyrus	brain
22	chr19:40792000-40792600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr19:40792000-40792600	Enhancers	Colon Smooth Muscle	Colon
24	chr19:40792000-40792600	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr19:40792000-40792600	Active TSS	HSMM	muscle
26	chr19:40792000-40792600	Enhancers	HSMMtube	muscle
27	chr19:40792000-40792600	Enhancers	Osteobl	bone
28	chr19:40792000-40792800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr19:40792000-40792800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr19:40792000-40792800	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr19:40792000-40792800	Active TSS	Rectal Smooth Muscle	rectum
32	chr19:40792000-40792800	Active TSS	Stomach Smooth Muscle	stomach
33	chr19:40792000-40793000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr19:40792000-40793000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr19:40792000-40793000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr19:40792000-40793000	Enhancers	Fetal Kidney	kidney
37	chr19:40792000-40793000	Enhancers	A549	lung
38	chr19:40792000-40793000	Enhancers	NHLF	lung
39	chr19:40792000-40793200	Enhancers	Primary hematopoietic stem cells	blood
40	chr19:40792000-40793200	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr19:40792000-40793200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr19:40792000-40793200	Enhancers	Fetal Stomach	stomach
43	chr19:40792000-40793200	Enhancers	Fetal Thymus	thymus
44	chr19:40792000-40793200	Enhancers	K562	blood
45	chr19:40792000-40793800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr19:40792000-40802600	Weak transcription	Fetal Brain Female	brain
47	chr19:40792000-40807600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr19:40792000-40811400	Weak transcription	Brain Anterior Caudate	brain
49	chr19:40792000-40826200	Weak transcription	Hela-S3	cervix
50	chr19:40792200-40792600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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