Variant report

Variant	rs13399991
Chromosome Location	chr2:57679820-57679821
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10167841	1.00[AMR][1000 genomes]
rs10175850	1.00[AMR][1000 genomes]
rs10191240	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10192823	0.98[AFR][1000 genomes]
rs10199165	1.00[AMR][1000 genomes]
rs10199373	1.00[AMR][1000 genomes]
rs10206796	1.00[AMR][1000 genomes]
rs13394838	0.87[AFR][1000 genomes]
rs13402185	1.00[AMR][1000 genomes]
rs13406214	1.00[AMR][1000 genomes]
rs13410706	1.00[AMR][1000 genomes]
rs13424379	1.00[AMR][1000 genomes]
rs13424595	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13425155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13429877	1.00[AMR][1000 genomes]
rs72933510	1.00[AMR][1000 genomes]
rs7355397	0.85[AFR][1000 genomes]
rs73941411	1.00[EUR][1000 genomes]
rs73942737	1.00[EUR][1000 genomes]
rs73942766	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7571066	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7571200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7574232	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999898	chr2:57193127-57901238	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv535729	chr2:57193127-57901238	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1012285	chr2:57453353-57760750	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv874187	chr2:57507510-57703467	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv834126	chr2:57518655-57701015	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1000899	chr2:57537817-57694142	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1007118	chr2:57562051-58147588	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1003020	chr2:57592640-57681816	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv525779	chr2:57607449-57685889	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
10	nsv1006603	chr2:57609335-57712494	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv526359	chr2:57616965-57703467	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv1001176	chr2:57618795-57770261	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:57674800-57681400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:57677800-57681800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:57679200-57680000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:57679400-57680400	Enhancers	Fetal Brain Male	brain
5	chr2:57679600-57680000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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