Variant report

Variant	rs16878165
Chromosome Location	chr5:59794824-59794825
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10056275	1.00[ASN][1000 genomes]
rs16877986	0.83[GIH][hapmap]
rs2061251	1.00[ASN][1000 genomes]
rs28531078	1.00[ASN][1000 genomes]
rs56679922	1.00[ASN][1000 genomes]
rs57261286	0.87[AFR][1000 genomes]
rs59696553	0.88[AFR][1000 genomes]
rs61058479	0.85[AFR][1000 genomes]
rs6449472	0.89[AFR][1000 genomes]
rs6860925	1.00[ASN][1000 genomes]
rs6879253	1.00[ASN][1000 genomes]
rs6882049	1.00[ASN][1000 genomes]
rs6889130	1.00[ASN][1000 genomes]
rs73106785	1.00[ASN][1000 genomes]
rs73108695	0.85[AFR][1000 genomes]
rs73759341	1.00[ASN][1000 genomes]
rs7700547	1.00[ASN][1000 genomes]
rs7707672	1.00[ASN][1000 genomes]
rs7708284	0.87[GIH][hapmap];1.00[ASN][1000 genomes]
rs7737629	0.84[AFR][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	nsv1025856	chr5:59188419-59928852	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv598288	chr5:59627555-60003460	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1018614	chr5:59708223-59910308	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv881711	chr5:59724947-59890278	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv598297	chr5:59734004-59862453	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59782000-59801000	Weak transcription	Fetal Brain Male	brain
2	chr5:59789600-59795400	Weak transcription	Aorta	Aorta
3	chr5:59790000-59795000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr5:59791000-59795200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:59791200-59795000	Enhancers	HMEC	breast
6	chr5:59791400-59801000	Weak transcription	Primary B cells from cord blood	blood
7	chr5:59792200-59795200	Enhancers	HepG2	liver
8	chr5:59792600-59798200	Weak transcription	GM12878-XiMat	blood
9	chr5:59793600-59795200	Enhancers	Brain Hippocampus Middle	brain
10	chr5:59793800-59795200	Enhancers	Placenta Amnion	Placenta Amnion
11	chr5:59794400-59795600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:59794400-59796000	Enhancers	Stomach Smooth Muscle	stomach
13	chr5:59794400-59799800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr5:59794600-59796000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr5:59794800-59795800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr5:59794800-59796200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr5:59794800-59799400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr5:59794800-59803800	Weak transcription	Osteobl	bone
19	chr5:59794800-59805800	Weak transcription	Brain Inferior Temporal Lobe	brain

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