Variant report

Variant	rs204613
Chromosome Location	chr20:14324759-14324760
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs13038046	1.00[YRI][hapmap]
rs204604	0.90[AFR][1000 genomes]
rs204611	0.90[AFR][1000 genomes]
rs204612	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs204623	0.95[AFR][1000 genomes]
rs204624	0.95[AFR][1000 genomes]
rs204626	1.00[YRI][hapmap]
rs204646	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs204649	1.00[AMR][1000 genomes]
rs204653	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs204654	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2327836	1.00[AMR][1000 genomes]
rs2876372	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs4052955	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6033939	1.00[AMR][1000 genomes]
rs6033945	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6042622	1.00[AMR][1000 genomes]
rs6042662	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6042664	1.00[AMR][1000 genomes]
rs6042665	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6042674	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6042702	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6074727	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6079419	1.00[AMR][1000 genomes]
rs6079420	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066810	chr20:13451869-14432454	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv531479	chr20:13632491-14434432	Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1057486	chr20:14077828-14469129	ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1066235	chr20:14173771-14389050	Weak transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1055499	chr20:14224873-14848061	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv432101	chr20:14294196-14353346	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14318400-14325400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr20:14318400-14325600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr20:14321800-14325800	Enhancers	Fetal Intestine Large	intestine
4	chr20:14321800-14325800	Enhancers	Fetal Intestine Small	intestine
5	chr20:14322400-14324800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr20:14322600-14325200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr20:14322600-14325600	Enhancers	Stomach Mucosa	stomach
8	chr20:14323000-14325800	Enhancers	Liver	Liver
9	chr20:14323400-14325200	Enhancers	A549	lung
10	chr20:14324400-14325000	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr20:14324400-14325000	Enhancers	GM12878-XiMat	blood
12	chr20:14324600-14324800	Enhancers	Duodenum Mucosa	Duodenum

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