Variant report

Variant	rs12550843
Chromosome Location	chr8:49176789-49176790
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:49175832..49177590-chr8:49186476..49188807,2	K562	blood:
2	chr8:49175604..49178104-chr8:49181839..49183388,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10957003	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10957025	0.83[ASN][1000 genomes]
rs10958492	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10958493	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10958494	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11777096	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11777512	0.85[ASN][1000 genomes]
rs11779663	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11781426	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11783152	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11783466	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11786285	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12155524	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12679335	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12681895	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13258419	0.85[ASN][1000 genomes]
rs13280326	0.85[ASN][1000 genomes]
rs34664131	0.83[ASN][1000 genomes]
rs35157243	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35955912	0.96[ASN][1000 genomes]
rs35975383	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3935535	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4077922	0.89[ASN][1000 genomes]
rs4242486	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4286973	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4291295	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4357320	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4392930	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4480143	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4493932	0.83[ASN][1000 genomes]
rs4873081	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4873272	0.85[ASN][1000 genomes]
rs4873788	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7008284	0.84[ASN][1000 genomes]
rs7464639	0.97[ASN][1000 genomes]
rs7817899	0.88[ASN][1000 genomes]
rs7838270	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9650185	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[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	nsv831310	chr8:49080177-49256440	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv831311	chr8:49106160-49290209	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv1808901	chr8:49173411-49201882	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49173200-49178800	Weak transcription	Spleen	Spleen
2	chr8:49173200-49182000	Weak transcription	Esophagus	oesophagus
3	chr8:49173400-49186400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:49174200-49177200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:49174200-49181600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:49174200-49186400	Weak transcription	Right Atrium	heart
7	chr8:49174800-49179000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:49175000-49177200	Weak transcription	Fetal Stomach	stomach
9	chr8:49175000-49178000	Weak transcription	Adipose Nuclei	Adipose
10	chr8:49175000-49186600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:49175200-49177400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:49175200-49178800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:49175200-49179000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:49175200-49179200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr8:49175400-49178600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:49175800-49178200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:49176400-49176800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr8:49176600-49177000	Enhancers	Duodenum Mucosa	Duodenum
19	chr8:49176600-49177600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:49176600-49177600	Enhancers	NHDF-Ad	bronchial

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