Variant report

Variant	rs60884569
Chromosome Location	chr2:50152196-50152197
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:50152142..50154281-chr2:50155561..50158371,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1013597	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10495988	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11125278	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11885824	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11902804	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12476729	0.89[EUR][1000 genomes]
rs12617277	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12618646	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12995774	0.92[EUR][1000 genomes]
rs12998798	0.93[EUR][1000 genomes]
rs13000689	0.93[EUR][1000 genomes]
rs13007882	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13016321	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13016900	0.84[ASN][1000 genomes]
rs13022108	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13023203	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13025974	0.91[EUR][1000 genomes]
rs13028383	0.84[EUR][1000 genomes]
rs1345562	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17039412	0.92[EUR][1000 genomes]
rs17039430	0.92[EUR][1000 genomes]
rs17039448	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17039452	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17039454	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17039456	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17039472	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17039484	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17039508	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2241750	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2241752	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2350803	0.84[ASN][1000 genomes]
rs34533417	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34918442	0.91[EUR][1000 genomes]
rs35371642	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35373906	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3922898	0.83[EUR][1000 genomes]
rs3935314	0.84[EUR][1000 genomes]
rs4143112	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57936567	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62132409	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62132414	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62132439	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6745765	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6753652	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6758043	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6758276	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7598993	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs920033	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs920034	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs920035	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[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	esv3388948	chr2:50092667-50602681	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3399511	chr2:50092687-50602651	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv934303	chr2:50145598-50412189	Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50141600-50175400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:50141600-50187400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:50149400-50154000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr2:50149400-50156200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:50150600-50152200	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr2:50150600-50152200	Weak transcription	Psoas Muscle	Psoas
7	chr2:50150600-50152400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr2:50150600-50155000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr2:50150600-50155000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr2:50150800-50152200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr2:50151000-50154600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:50151600-50152800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr2:50151800-50155000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr2:50151800-50160600	Weak transcription	Fetal Heart	heart
15	chr2:50152000-50152200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:50152000-50153000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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