Variant report

Variant	rs8109709
Chromosome Location	chr19:38003372-38003373
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37996541..38000346-chr19:38000524..38005136,9	MCF-7	breast:
2	chr19:38002449..38004595-chr19:38006976..38008761,2	K562	blood:

Variant related genes	Relation type
ENSG00000188227	Chromatin interaction
ENSG00000266916	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10403307	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1236810	0.95[EUR][1000 genomes]
rs1465434	0.93[EUR][1000 genomes]
rs2617789	0.95[EUR][1000 genomes]
rs45483504	0.89[EUR][1000 genomes]
rs62110388	0.86[EUR][1000 genomes]
rs62110389	0.89[EUR][1000 genomes]
rs62110390	0.89[EUR][1000 genomes]
rs62110392	0.90[EUR][1000 genomes]
rs62110395	0.93[EUR][1000 genomes]
rs62110430	0.95[EUR][1000 genomes]
rs62110431	0.95[EUR][1000 genomes]
rs62110434	0.95[EUR][1000 genomes]
rs7251097	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73027379	0.91[EUR][1000 genomes]
rs73027386	0.93[EUR][1000 genomes]
rs8108650	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
5	nsv1056753	chr19:37963714-38015943	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv579468	chr19:37977609-38293487	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37998400-38004800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:37998600-38003800	Weak transcription	Placenta	Placenta
3	chr19:37998600-38004200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr19:37998600-38004800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr19:37998600-38005200	Weak transcription	Psoas Muscle	Psoas
6	chr19:37998600-38008400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr19:37998800-38003800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr19:37998800-38006200	Weak transcription	Esophagus	oesophagus
9	chr19:37998800-38010800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:37998800-38014000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr19:37998800-38021000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr19:37998800-38022600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr19:37999000-38003800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr19:37999000-38004000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr19:37999000-38004200	Weak transcription	Brain Substantia Nigra	brain
16	chr19:37999000-38006800	Weak transcription	NH-A	brain
17	chr19:37999000-38007000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr19:37999000-38010800	Weak transcription	Right Ventricle	heart
19	chr19:37999000-38011000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr19:37999000-38011400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr19:37999000-38013800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr19:37999000-38028800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr19:37999200-38003400	Weak transcription	Fetal Kidney	kidney
24	chr19:37999200-38003800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr19:37999200-38008000	Weak transcription	NHEK	skin
26	chr19:37999200-38008400	Weak transcription	Fetal Heart	heart
27	chr19:37999200-38018400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr19:37999400-38008600	Strong transcription	Brain Germinal Matrix	brain
29	chr19:37999600-38003800	Weak transcription	Fetal Brain Male	brain
30	chr19:37999600-38005200	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr19:37999800-38009200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr19:37999800-38009800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr19:37999800-38012800	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr19:38000200-38005000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr19:38000200-38010400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr19:38000400-38003400	Strong transcription	Fetal Muscle Trunk	muscle
37	chr19:38000400-38008600	Strong transcription	Stomach Smooth Muscle	stomach
38	chr19:38000600-38003400	Strong transcription	Fetal Stomach	stomach
39	chr19:38000600-38004600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr19:38000600-38005800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr19:38000800-38004600	Strong transcription	Brain Anterior Caudate	brain
42	chr19:38000800-38006200	Strong transcription	Fetal Intestine Large	intestine
43	chr19:38000800-38008800	Strong transcription	Brain Hippocampus Middle	brain
44	chr19:38001000-38003600	Weak transcription	Fetal Lung	lung
45	chr19:38001200-38004000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr19:38001600-38003400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr19:38001800-38005600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr19:38002000-38004400	Strong transcription	Fetal Brain Female	brain
49	chr19:38002000-38005400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
50	chr19:38002000-38005600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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