Variant report

Variant	rs706609
Chromosome Location	chr13:50717724-50717725
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:50698035..50701836-chr13:50715976..50718529,4	K562	blood:
2	chr13:50708042..50711233-chr13:50714851..50719539,6	K562	blood:

Variant related genes	Relation type
ENSG00000231607	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs2066550	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2472395	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2476389	0.82[EUR][1000 genomes]
rs2476391	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2490636	0.82[EUR][1000 genomes]
rs2490637	0.82[EUR][1000 genomes]
rs2490638	0.82[EUR][1000 genomes]
rs2490639	0.82[EUR][1000 genomes]
rs2687933	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2687934	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2687935	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2687936	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2812223	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34047395	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs706615	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs706617	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73489867	0.82[EUR][1000 genomes]
rs790528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs790529	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs790530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs790531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs790532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs790928	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs790931	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs790934	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs790935	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs790937	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs790939	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs790940	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs790941	0.89[EUR][1000 genomes];0.89[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	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases
5	nsv832608	chr13:50678628-50888413	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv1041501	chr13:50683189-50795195	Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	nsv900076	chr13:50710579-50912578	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50715600-50726400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr13:50715800-50718000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr13:50715800-50718200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr13:50715800-50718600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr13:50716000-50718400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr13:50716000-50718400	Weak transcription	NHLF	lung
7	chr13:50716000-50723200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr13:50716000-50723600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr13:50716200-50718200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr13:50716200-50718400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr13:50716200-50718800	Weak transcription	Brain Hippocampus Middle	brain
12	chr13:50716200-50723600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr13:50716800-50719200	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr13:50716800-50719200	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr13:50717600-50718600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr13:50717600-50719200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr13:50717600-50719400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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