Variant report

Variant	rs2783585
Chromosome Location	chr10:29297685-29297686
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1248420	0.86[EUR][1000 genomes]
rs1248423	0.85[EUR][1000 genomes]
rs1248424	0.85[EUR][1000 genomes]
rs1539248	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1763370	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1763383	0.91[ASN][1000 genomes]
rs1773833	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1773878	0.81[ASN][1000 genomes]
rs1773879	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2484503	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2484505	0.96[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.82[JPT][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2783580	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2783592	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2795100	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61838449	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs788051	0.89[EUR][1000 genomes]
rs805501	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041555	chr10:28419399-29304934	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv1037863	chr10:28419399-29378871	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer 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 miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv540521	chr10:28419399-29378871	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv1046678	chr10:29242479-29378871	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv540524	chr10:29242479-29378871	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2783585	ZNF438	cis	parietal	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:29295400-29298600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr10:29296600-29297800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr10:29296600-29297800	Enhancers	Fetal Lung	lung
4	chr10:29296600-29298000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr10:29296800-29299000	Enhancers	K562	blood
6	chr10:29297000-29297800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr10:29297000-29298000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr10:29297000-29298000	Enhancers	A549	lung
9	chr10:29297200-29297800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr10:29297200-29298600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr10:29297200-29299000	Enhancers	Fetal Heart	heart
12	chr10:29297400-29298000	Enhancers	HepG2	liver
13	chr10:29297400-29298200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr10:29297400-29298600	Weak transcription	Fetal Intestine Small	intestine
15	chr10:29297400-29298600	Weak transcription	Fetal Muscle Trunk	muscle
16	chr10:29297400-29300000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr10:29297400-29300000	Weak transcription	Fetal Muscle Leg	muscle
18	chr10:29297400-29300200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr10:29297600-29297800	Flanking Active TSS	NH-A	brain
20	chr10:29297600-29298600	Weak transcription	Fetal Intestine Large	intestine
21	chr10:29297600-29300600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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