Variant report

Variant	rs16892231
Chromosome Location	chr8:99319167-99319168
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:99270989..99273601-chr8:99316752..99319337,2	MCF-7	breast:
2	chr8:99318271..99319945-chr8:99351260..99353325,2	MCF-7	breast:
3	chr8:99317720..99320163-chr8:99340158..99342322,2	MCF-7	breast:
4	chr8:99316732..99320317-chr8:99321692..99325687,5	MCF-7	breast:
5	chr8:99305096..99307073-chr8:99316454..99319196,2	K562	blood:

Variant related genes	Relation type
ENSG00000104361	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10955166	0.96[CEU][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11782501	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13259687	0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs36067643	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4131950	0.96[CEU][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4131951	0.85[CHD][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs4145238	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4236847	0.96[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4273827	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4284021	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4346964	0.85[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs4346967	0.96[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];0.82[MEX][hapmap];0.81[TSI][hapmap];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4366057	0.94[ASN][1000 genomes]
rs4458848	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4644205	0.96[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap];0.81[MKK][hapmap];0.85[TSI][hapmap];0.88[YRI][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4734396	0.81[ASN][1000 genomes]
rs4734397	0.96[CEU][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4734398	0.82[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs4734399	0.96[CEU][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap];0.81[TSI][hapmap];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4735553	0.82[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4735554	0.82[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.83[TSI][hapmap];0.94[ASN][1000 genomes]
rs56084201	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6468629	0.96[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6468632	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7005707	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs7829174	0.81[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7831383	0.81[CEU][hapmap];0.91[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.83[TSI][hapmap];0.93[ASN][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	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv831406	chr8:99290745-99482076	Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16892231	UBR5	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99310200-99324200	Weak transcription	Fetal Heart	heart
2	chr8:99316000-99320600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:99317200-99319200	Enhancers	Fetal Brain Male	brain
4	chr8:99317200-99319200	Enhancers	HepG2	liver
5	chr8:99317600-99322800	Weak transcription	HMEC	breast
6	chr8:99318000-99319200	Enhancers	Rectal Mucosa Donor 29	rectum
7	chr8:99318000-99319200	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr8:99318400-99319200	Enhancers	Fetal Intestine Small	intestine
9	chr8:99318400-99323200	Weak transcription	Colonic Mucosa	Colon
10	chr8:99318600-99321600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr8:99318800-99323200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:99318800-99323200	Weak transcription	NHEK	skin
13	chr8:99318800-99335200	Weak transcription	HSMM	muscle
14	chr8:99319000-99319200	Enhancers	K562	blood
15	chr8:99319000-99321600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:99319000-99322400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr8:99319000-99322800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:99319000-99323200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:99319000-99323200	Weak transcription	Esophagus	oesophagus

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