Variant report

Variant	rs12165913
Chromosome Location	chr22:28990275-28990276
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	chr22:28989732..28992397-chr22:28995428..28996933,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs12165715	0.86[AFR][1000 genomes]
rs12165893	0.86[AFR][1000 genomes]
rs12166245	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12166475	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12167434	0.85[AFR][1000 genomes]
rs12167532	0.81[AMR][1000 genomes]
rs12167614	0.86[AFR][1000 genomes]
rs12168031	0.84[AFR][1000 genomes]
rs12168765	0.86[AFR][1000 genomes]
rs12169071	0.87[AFR][1000 genomes]
rs12169120	0.83[AFR][1000 genomes]
rs12169232	0.82[AFR][1000 genomes]
rs12169460	0.86[AFR][1000 genomes]
rs12169880	0.86[AFR][1000 genomes]
rs134547	0.82[AFR][1000 genomes]
rs16986398	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2013784	0.85[AFR][1000 genomes]
rs2144922	0.85[AFR][1000 genomes]
rs2881496	0.85[AFR][1000 genomes]
rs28818228	0.85[AFR][1000 genomes]
rs58049055	0.84[AFR][1000 genomes]
rs58542867	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6005809	0.83[AFR][1000 genomes]
rs60065194	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs60248971	0.86[AFR][1000 genomes]
rs60693420	0.86[AFR][1000 genomes]
rs6519758	0.84[AFR][1000 genomes]
rs7288792	0.86[AFR][1000 genomes]
rs7289534	0.86[AFR][1000 genomes]
rs7289625	0.81[AMR][1000 genomes]
rs7293232	0.86[AFR][1000 genomes]
rs73430118	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs73430179	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs73430189	0.86[AFR][1000 genomes]
rs73432205	0.86[AFR][1000 genomes]
rs8136767	0.86[AFR][1000 genomes]
rs8136995	0.86[AFR][1000 genomes]
rs8142681	0.85[AFR][1000 genomes]
rs9620808	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs9620810	0.86[AFR][1000 genomes]
rs9620811	0.86[AFR][1000 genomes]
rs9625498	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs9625509	0.81[AMR][1000 genomes]
rs9625512	0.86[AFR][1000 genomes]
rs9625513	0.86[AFR][1000 genomes]
rs9625514	0.86[AFR][1000 genomes]
rs9625518	0.86[AFR][1000 genomes]
rs9625520	0.83[AFR][1000 genomes]
rs9625521	0.86[AFR][1000 genomes]
rs9625522	0.83[AFR][1000 genomes]
rs9625523	0.83[AFR][1000 genomes]
rs9625524	0.86[AFR][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	nsv1067544	chr22:28755418-29055246	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
2	nsv544674	chr22:28755418-29055246	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv588880	chr22:28807277-29001789	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
4	nsv916473	chr22:28837041-29215603	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28956800-28993200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr22:28967800-28991600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr22:28967800-28997600	Weak transcription	HepG2	liver
4	chr22:28979200-28991400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr22:28979200-28993600	Weak transcription	Fetal Stomach	stomach
6	chr22:28979600-28990400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr22:28980000-28990600	Weak transcription	Colon Smooth Muscle	Colon
8	chr22:28980400-28990600	Weak transcription	NHLF	lung
9	chr22:28981600-28990400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr22:28988800-28991400	Enhancers	Dnd41	blood
11	chr22:28989400-28990400	Weak transcription	Fetal Brain Female	brain
12	chr22:28989800-28991200	Weak transcription	A549	lung

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