Variant report

Variant	rs2059799
Chromosome Location	chr5:5240194-5240195
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10512773	1.00[CEU][hapmap];0.83[JPT][hapmap];0.87[EUR][1000 genomes]
rs12514916	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs12520771	0.90[CEU][hapmap];0.85[EUR][1000 genomes]
rs12523075	0.87[EUR][1000 genomes]
rs1560062	1.00[CEU][hapmap];0.83[JPT][hapmap];0.87[EUR][1000 genomes]
rs16875074	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs16875090	1.00[CEU][hapmap];0.83[JPT][hapmap];0.87[EUR][1000 genomes]
rs17839188	0.87[EUR][1000 genomes]
rs2964433	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62338163	0.83[EUR][1000 genomes]
rs62338164	0.87[EUR][1000 genomes]
rs62338167	0.87[EUR][1000 genomes]
rs62338208	0.83[EUR][1000 genomes]
rs890768	1.00[CEU][hapmap];0.83[JPT][hapmap];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024784	chr5:4980979-5391231	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS 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	17 gene(s)	inside rSNPs	diseases
2	nsv1032719	chr5:5102763-5387406	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537621	chr5:5102763-5387406	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5185200-5262800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:5200200-5252800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr5:5202600-5240200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr5:5221600-5242200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:5222200-5244000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr5:5224400-5253800	Weak transcription	Fetal Kidney	kidney
7	chr5:5230200-5255400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr5:5232000-5245400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:5234600-5252600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr5:5236800-5255400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr5:5237200-5242800	Strong transcription	Ovary	ovary
12	chr5:5238000-5250200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:5238400-5246000	Weak transcription	Fetal Muscle Leg	muscle
14	chr5:5239000-5246600	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr5:5239200-5240800	Strong transcription	Fetal Muscle Trunk	muscle
16	chr5:5239200-5245400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:5239400-5263000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:5239600-5240800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr5:5240000-5240800	Strong transcription	H9 Cell Line	embryonic stem cell
20	chr5:5240000-5241400	Weak transcription	NH-A	brain

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