Variant report

Variant	rs2119205
Chromosome Location	chr4:47924629-47924630
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10002498	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10020447	0.82[EUR][1000 genomes]
rs10938508	0.85[EUR][1000 genomes]
rs11732840	0.86[EUR][1000 genomes]
rs11946535	0.86[EUR][1000 genomes]
rs12506026	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1371728	0.85[EUR][1000 genomes]
rs1545200	0.82[EUR][1000 genomes]
rs1550444	0.83[EUR][1000 genomes]
rs1812964	0.81[EUR][1000 genomes]
rs1968542	0.84[EUR][1000 genomes]
rs1972883	0.85[EUR][1000 genomes]
rs1972884	0.84[EUR][1000 genomes]
rs2119204	0.82[EUR][1000 genomes]
rs2119208	0.83[EUR][1000 genomes]
rs2352456	0.86[EUR][1000 genomes]
rs2352457	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2352463	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2352466	0.85[EUR][1000 genomes]
rs28464733	0.89[EUR][1000 genomes]
rs2882950	0.84[EUR][1000 genomes]
rs3762858	0.85[EUR][1000 genomes]
rs3762859	0.85[EUR][1000 genomes]
rs3811761	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3845160	0.85[EUR][1000 genomes]
rs4507330	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4694875	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs4694878	0.85[EUR][1000 genomes]
rs4695302	0.81[EUR][1000 genomes]
rs4695309	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4695312	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4695316	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6447596	0.81[EUR][1000 genomes]
rs6447599	0.84[EUR][1000 genomes]
rs6815975	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6819506	0.82[EUR][1000 genomes]
rs6823572	0.85[EUR][1000 genomes]
rs6826190	0.81[EUR][1000 genomes]
rs6826909	0.85[EUR][1000 genomes]
rs6832334	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6833320	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6845451	0.82[EUR][1000 genomes]
rs7668778	0.86[EUR][1000 genomes]
rs7670219	0.81[EUR][1000 genomes]
rs7690406	0.83[EUR][1000 genomes]
rs7690522	0.85[EUR][1000 genomes]
rs893861	0.84[EUR][1000 genomes]
rs9291318	0.86[EUR][1000 genomes]
rs9291319	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9995022	0.85[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	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1013947	chr4:47915527-48052824	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv537082	chr4:47915527-48052824	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2119205	CNGA1	cis	Heart Left Ventricle	GTEx
rs2119205	CNGA1	cis	Thyroid	GTEx

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47923800-47924800	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr4:47923800-47926400	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr4:47924200-47925000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr4:47924200-47925000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:47924200-47925200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
6	chr4:47924400-47924800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr4:47924400-47924800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:47924400-47924800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:47924400-47924800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:47924400-47924800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr4:47924400-47925000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:47924400-47925000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr4:47924400-47925000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr4:47924400-47925000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr4:47924400-47925000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr4:47924400-47925000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:47924400-47925200	Enhancers	H1 Cell Line	embryonic stem cell
18	chr4:47924400-47925200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell

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