Variant report

Variant	rs60357117
Chromosome Location	chr22:30933791-30933792
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11913993	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11914026	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11914187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11914198	0.98[AFR][1000 genomes]
rs16988746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2097870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56968636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58978536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60913420	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7287647	0.98[AFR][1000 genomes]
rs73394208	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394212	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394239	0.98[AFR][1000 genomes]
rs73394252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30928200-30938000	Weak transcription	Lung	lung
2	chr22:30930200-30934400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr22:30932400-30934000	Enhancers	HepG2	liver
4	chr22:30933000-30934600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr22:30933200-30934000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr22:30933200-30934000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr22:30933200-30934000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr22:30933200-30934000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr22:30933200-30934000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr22:30933200-30934800	Enhancers	K562	blood
11	chr22:30933400-30933800	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr22:30933400-30937800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr22:30933600-30937600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr22:30933600-30937600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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