Variant report

Variant	rs60964812
Chromosome Location	chr22:30553801-30553802
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30552521..30555409-chr22:30604715..30606658,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs16988115	1.00[AMR][1000 genomes]
rs16988122	1.00[AMR][1000 genomes]
rs16988151	1.00[AMR][1000 genomes]
rs56733052	1.00[AMR][1000 genomes]
rs57724305	1.00[AMR][1000 genomes]
rs58952888	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs59580785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5997565	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6006309	1.00[AMR][1000 genomes]
rs6006317	1.00[AMR][1000 genomes]
rs6006318	1.00[AMR][1000 genomes]
rs6006331	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61043203	1.00[AMR][1000 genomes]
rs61191536	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73398604	1.00[AMR][1000 genomes]
rs73398637	1.00[AMR][1000 genomes]
rs73398640	1.00[AMR][1000 genomes]
rs73398663	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73400621	0.83[AMR][1000 genomes]
rs73400633	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73400648	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73400675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73400689	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73402619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73402627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73402640	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73402644	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73402647	1.00[AMR][1000 genomes]
rs73402653	1.00[AMR][1000 genomes]
rs73402667	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9620939	0.83[AMR][1000 genomes]
rs9625903	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv588884	chr22:30494371-30590026	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv834173	chr22:30515092-30658277	Enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv527188	chr22:30529741-30581722	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30541000-30555200	Weak transcription	Osteobl	bone
2	chr22:30547200-30555400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr22:30547200-30555600	Weak transcription	Thymus	Thymus
4	chr22:30550200-30555800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr22:30551600-30555600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr22:30552200-30554600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr22:30553200-30555400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr22:30553800-30558200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links