Variant report

Variant	rs4654044
Chromosome Location	chr1:224670263-224670264
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1989305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6426084	1.00[AMR][1000 genomes]
rs712067	1.00[AMR][1000 genomes]
rs712077	1.00[AMR][1000 genomes]
rs712078	1.00[AMR][1000 genomes]
rs712083	1.00[AMR][1000 genomes]
rs712091	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer 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	20 gene(s)	inside rSNPs	diseases
3	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer 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	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224667600-224671200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:224668400-224671600	Enhancers	HMEC	breast
3	chr1:224668800-224670800	Enhancers	Esophagus	oesophagus
4	chr1:224668800-224671000	Enhancers	NHEK	skin
5	chr1:224669000-224670800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:224669000-224671000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:224669200-224671400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:224669600-224671000	Enhancers	Placenta	Placenta
9	chr1:224670000-224671000	Enhancers	Fetal Intestine Small	intestine
10	chr1:224670200-224670800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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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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