Variant report

Variant	rs11050518
Chromosome Location	chr12:30034178-30034179
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	chr12:30029795..30032959-chr12:30033915..30036859,3	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10843534	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10843545	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11050512	1.00[AFR][1000 genomes]
rs11050519	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11050525	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11050526	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11050528	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11050536	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11050537	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11050538	1.00[AFR][1000 genomes]
rs11050547	0.83[EUR][1000 genomes]
rs12809939	1.00[AFR][1000 genomes]
rs12811388	1.00[AFR][1000 genomes]
rs12811985	1.00[AFR][1000 genomes]
rs12812577	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12813154	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12813417	1.00[AFR][1000 genomes]
rs12821024	1.00[AFR][1000 genomes]
rs12821165	1.00[AFR][1000 genomes]
rs12821746	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12822092	1.00[AFR][1000 genomes]
rs12825788	0.89[AFR][1000 genomes]
rs12825871	0.83[EUR][1000 genomes]
rs12826590	1.00[AFR][1000 genomes]
rs12828727	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1466545	1.00[AFR][1000 genomes]
rs188549	0.85[ASN][1000 genomes]
rs2200275	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2220131	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs416697	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs444711	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs614490	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7132449	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7133117	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7136398	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73069892	0.90[ASN][1000 genomes]
rs73071610	0.92[ASN][1000 genomes]
rs73071623	0.97[ASN][1000 genomes]
rs73073130	0.86[ASN][1000 genomes]
rs7962909	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7979574	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv469191	chr12:29939628-30098770	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv557958	chr12:29939628-30098770	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv526146	chr12:29989292-30112823	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv2758302	chr12:30023167-30175232	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv2759889	chr12:30023167-30175232	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30032800-30036800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:30033200-30036800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:30033200-30036800	Weak transcription	Aorta	Aorta
4	chr12:30033400-30035000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:30033400-30035800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr12:30033400-30036000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr12:30033400-30036200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:30033400-30036600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr12:30033400-30036800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:30033400-30036800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr12:30033600-30034800	Weak transcription	Fetal Heart	heart

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