Variant report

Variant	rs8108314
Chromosome Location	chr19:21360779-21360780
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10414473	0.84[EUR][1000 genomes]
rs10415009	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10416988	0.82[ASN][1000 genomes]
rs10417249	0.82[ASN][1000 genomes]
rs10422057	0.82[ASN][1000 genomes]
rs11671623	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12608652	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12611085	0.82[ASN][1000 genomes]
rs12611135	0.82[ASN][1000 genomes]
rs12976375	0.86[ASN][1000 genomes]
rs1445847	0.82[ASN][1000 genomes]
rs1620157	0.82[ASN][1000 genomes]
rs1645791	0.89[ASN][1000 genomes]
rs1645804	0.82[ASN][1000 genomes]
rs1781860	0.86[ASN][1000 genomes]
rs1781861	0.89[ASN][1000 genomes]
rs1781862	0.89[ASN][1000 genomes]
rs1937811	0.83[ASN][1000 genomes]
rs2021432	0.82[ASN][1000 genomes]
rs2042985	0.82[ASN][1000 genomes]
rs2081183	0.89[ASN][1000 genomes]
rs2081186	0.89[ASN][1000 genomes]
rs2081187	0.81[ASN][1000 genomes]
rs2113136	0.81[ASN][1000 genomes]
rs2358808	0.84[ASN][1000 genomes]
rs29728	0.80[ASN][1000 genomes]
rs29729	0.81[ASN][1000 genomes]
rs388229	0.83[ASN][1000 genomes]
rs416001	0.85[ASN][1000 genomes]
rs4280382	0.81[ASN][1000 genomes]
rs4305209	0.86[ASN][1000 genomes]
rs4411627	0.86[ASN][1000 genomes]
rs4482412	0.86[ASN][1000 genomes]
rs4485500	0.84[ASN][1000 genomes]
rs4493182	0.86[ASN][1000 genomes]
rs4560042	0.86[ASN][1000 genomes]
rs4606860	0.86[ASN][1000 genomes]
rs4609982	0.84[ASN][1000 genomes]
rs6511207	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6511209	0.83[ASN][1000 genomes]
rs6511210	0.83[ASN][1000 genomes]
rs6511211	0.83[ASN][1000 genomes]
rs6511212	0.83[ASN][1000 genomes]
rs6511214	0.82[ASN][1000 genomes]
rs6511215	0.82[ASN][1000 genomes]
rs7245597	0.82[ASN][1000 genomes]
rs7246432	0.82[ASN][1000 genomes]
rs7247730	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7247871	0.86[ASN][1000 genomes]
rs7247882	0.86[ASN][1000 genomes]
rs7248088	0.86[ASN][1000 genomes]
rs7251075	0.82[ASN][1000 genomes]
rs7254094	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7254835	0.89[ASN][1000 genomes]
rs7254957	0.89[ASN][1000 genomes]
rs7257196	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7257208	0.83[ASN][1000 genomes]
rs7258575	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7259368	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7260451	0.83[ASN][1000 genomes]
rs8111169	0.83[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	esv3385528	chr19:21030777-21495566	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers 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	32 gene(s)	inside rSNPs	diseases
2	nsv960811	chr19:21200306-21371757	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv3399352	chr19:21232738-21423323	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv3518033	chr19:21278465-21747567	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	esv3518034	chr19:21278465-21747567	ZNF genes & repeats Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	esv3414204	chr19:21301761-21839451	ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
7	nsv911414	chr19:21355473-21454672	Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8108314	ZNF493	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21325400-21361800	Weak transcription	Small Intestine	intestine
2	chr19:21325600-21365800	Weak transcription	Brain Angular Gyrus	brain
3	chr19:21326000-21361000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr19:21326800-21361800	Weak transcription	Stomach Mucosa	stomach
5	chr19:21331000-21371000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:21333000-21373000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr19:21333400-21364800	Weak transcription	HUVEC	blood vessel
8	chr19:21334600-21360800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr19:21335000-21365000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr19:21335800-21362800	Weak transcription	Psoas Muscle	Psoas
11	chr19:21336000-21362000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr19:21336200-21361800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr19:21336200-21361800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr19:21339400-21361000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr19:21339400-21361000	Weak transcription	NHDF-Ad	bronchial
16	chr19:21341800-21361600	Weak transcription	Colon Smooth Muscle	Colon
17	chr19:21342800-21362600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr19:21345400-21361400	Weak transcription	Spleen	Spleen
19	chr19:21345600-21363000	Weak transcription	HepG2	liver
20	chr19:21348600-21366400	Weak transcription	Brain Substantia Nigra	brain
21	chr19:21349600-21370600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr19:21349800-21363200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr19:21350000-21360800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr19:21350200-21362000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr19:21351400-21363800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
26	chr19:21352000-21361200	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr19:21352200-21363800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr19:21353000-21362800	Weak transcription	Hela-S3	cervix
29	chr19:21353200-21362800	Weak transcription	NHLF	lung
30	chr19:21353200-21363000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr19:21353200-21364800	Weak transcription	Brain Anterior Caudate	brain
32	chr19:21353200-21364800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr19:21353400-21361000	Weak transcription	K562	blood
34	chr19:21353400-21363400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr19:21353800-21364800	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr19:21354200-21361600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr19:21354600-21361200	Strong transcription	Thymus	Thymus
38	chr19:21354800-21361400	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr19:21355000-21369600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr19:21355200-21361400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr19:21355200-21362000	Strong transcription	Fetal Intestine Large	intestine
42	chr19:21355200-21369400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr19:21355200-21370800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr19:21355200-21371000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr19:21356400-21361600	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr19:21356400-21364400	Strong transcription	Ovary	ovary
47	chr19:21356600-21361400	Weak transcription	Aorta	Aorta
48	chr19:21356600-21368600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
49	chr19:21357200-21361400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr19:21357400-21360800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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