Variant report

Variant	rs4719088
Chromosome Location	chr7:70646531-70646532
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1002731	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1002732	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1002733	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs10244629	0.96[EUR][1000 genomes]
rs10256533	0.86[EUR][1000 genomes]
rs10266269	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10266753	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10268304	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs10271414	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10272163	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs10277269	0.87[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1615456	0.91[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1636477	0.91[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1636479	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1636480	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1636481	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs17520733	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1796057	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1796083	0.91[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1796084	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1796086	0.80[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs1796087	0.91[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1796088	0.91[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1796089	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2014091	0.87[EUR][1000 genomes]
rs2158733	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2707419	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2707420	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2707421	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs3973935	0.86[EUR][1000 genomes]
rs3973936	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs3973937	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs4398791	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs4717584	0.91[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs4719082	0.87[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4719083	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs4719089	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4719090	0.91[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs6460643	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519090	chr7:70085934-71071896	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1034662	chr7:70275712-70722953	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1015261	chr7:70404302-71255933	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv888343	chr7:70641761-70743033	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70612200-70650600	Weak transcription	Fetal Lung	lung
2	chr7:70631800-70647200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:70642000-70650200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:70642200-70651000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr7:70642200-70651600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:70642400-70648400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:70642400-70648800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr7:70642400-70651200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr7:70642800-70651400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr7:70644200-70651000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr7:70644200-70651200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr7:70645200-70650800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:70645400-70648200	Weak transcription	Right Atrium	heart

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