Variant report

Variant	rs4623984
Chromosome Location	chr12:47339679-47339680
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11183673	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11183675	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12581646	1.00[EUR][1000 genomes]
rs4768765	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73287907	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7963571	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7966649	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1845143	chr12:47051076-47431496	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47335800-47343400	Enhancers	NHDF-Ad	bronchial
2	chr12:47337000-47350400	Weak transcription	Psoas Muscle	Psoas
3	chr12:47337200-47342400	Weak transcription	Hela-S3	cervix
4	chr12:47337600-47342400	Weak transcription	NHLF	lung
5	chr12:47338000-47340000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:47338200-47340200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:47338200-47340200	Weak transcription	Osteobl	bone
8	chr12:47338200-47343800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:47338400-47343800	Weak transcription	HMEC	breast
10	chr12:47338400-47343800	Weak transcription	NHEK	skin
11	chr12:47338800-47340000	Weak transcription	HSMM	muscle
12	chr12:47338800-47349800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:47339000-47342400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr12:47339400-47339800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:47339400-47341200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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Input of quick search could be:

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

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