Variant report

Variant	rs12289919
Chromosome Location	chr11:120684833-120684834
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	chr11:120682539..120685026-chr11:120686697..120688763,2	K562	blood:
2	chr11:120683109..120686039-chr11:120687906..120690836,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs11218009	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11218010	1.00[ASN][1000 genomes]
rs11218012	1.00[ASN][1000 genomes]
rs11218015	1.00[ASN][1000 genomes]
rs11218020	1.00[EUR][1000 genomes]
rs11218033	1.00[EUR][1000 genomes]
rs11501142	1.00[EUR][1000 genomes]
rs11600068	1.00[ASN][1000 genomes]
rs11821379	1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs11822985	1.00[EUR][1000 genomes]
rs11824263	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12270392	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12271786	1.00[ASN][1000 genomes]
rs12275938	1.00[EUR][1000 genomes]
rs12278106	1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs12278293	1.00[EUR][1000 genomes]
rs12278548	1.00[EUR][1000 genomes]
rs12278827	1.00[ASN][1000 genomes]
rs12279279	1.00[EUR][1000 genomes]
rs12279371	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12282146	1.00[GIH][hapmap];0.82[LWK][hapmap];0.82[MKK][hapmap];0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12285831	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs12286020	1.00[EUR][1000 genomes]
rs12286679	1.00[ASN][1000 genomes]
rs12289237	1.00[ASN][1000 genomes]
rs12289238	1.00[ASN][1000 genomes]
rs12290599	1.00[EUR][1000 genomes]
rs12290923	1.00[ASN][1000 genomes]
rs12291509	1.00[EUR][1000 genomes]
rs12291645	1.00[EUR][1000 genomes]
rs12292138	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12294471	1.00[ASN][1000 genomes]
rs12294917	1.00[EUR][1000 genomes]
rs17124355	1.00[EUR][1000 genomes]
rs17124507	1.00[ASN][1000 genomes]
rs4278523	1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs57090447	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57802696	1.00[ASN][1000 genomes]
rs57940959	1.00[EUR][1000 genomes]
rs58190380	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60967271	1.00[ASN][1000 genomes]
rs61512619	1.00[EUR][1000 genomes]
rs7103005	1.00[ASN][1000 genomes]
rs7103215	1.00[ASN][1000 genomes]
rs7103391	1.00[ASN][1000 genomes]
rs7103410	1.00[ASN][1000 genomes]
rs7104632	1.00[ASN][1000 genomes]
rs7104812	1.00[ASN][1000 genomes]
rs7105205	1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs7106024	1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs7113703	1.00[ASN][1000 genomes]
rs7114795	1.00[EUR][1000 genomes]
rs7119695	1.00[ASN][1000 genomes]
rs7123614	1.00[ASN][1000 genomes]
rs7125796	1.00[ASN][1000 genomes]
rs7129234	1.00[ASN][1000 genomes]
rs7130412	1.00[ASN][1000 genomes]
rs73578576	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73578585	1.00[EUR][1000 genomes]
rs73578586	1.00[ASN][1000 genomes]
rs73578591	1.00[ASN][1000 genomes]
rs73578615	1.00[ASN][1000 genomes]
rs73580678	1.00[EUR][1000 genomes]
rs73580685	1.00[EUR][1000 genomes]
rs7926171	1.00[ASN][1000 genomes]
rs7938287	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7948126	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053607	chr11:120540795-120802006	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1038264	chr11:120582595-120799335	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv541181	chr11:120582595-120799335	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv832286	chr11:120585843-120745846	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120671400-120687400	Weak transcription	Brain Substantia Nigra	brain
2	chr11:120673600-120687800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr11:120673600-120687800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr11:120674000-120696000	Weak transcription	Fetal Lung	lung
5	chr11:120678800-120688000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:120679800-120685600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:120680000-120685800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:120680200-120695000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:120681200-120687000	Weak transcription	HepG2	liver
10	chr11:120681200-120687800	Weak transcription	Brain Hippocampus Middle	brain
11	chr11:120684000-120688000	Weak transcription	Right Atrium	heart
12	chr11:120684000-120707600	Weak transcription	Ovary	ovary
13	chr11:120684200-120685400	Weak transcription	Colonic Mucosa	Colon

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