Variant report

Variant	rs6114214
Chromosome Location	chr20:23627924-23627925
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13037020	0.93[CEU][hapmap];0.97[EUR][1000 genomes]
rs13039144	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2104005	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2145231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6036481	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6114213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv491876	chr20:23436633-24031374	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6114214	CST3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23618800-23628600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr20:23622200-23636600	Weak transcription	Pancreas	Pancrea
3	chr20:23622800-23640000	Weak transcription	Stomach Mucosa	stomach
4	chr20:23623000-23634200	Weak transcription	Right Atrium	heart
5	chr20:23623200-23636200	Weak transcription	Lung	lung
6	chr20:23624200-23633000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr20:23624600-23633000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr20:23626600-23628600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr20:23627400-23628200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr20:23627400-23628200	Enhancers	HepG2	liver
11	chr20:23627600-23628200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr20:23627600-23628400	Weak transcription	HMEC	breast
13	chr20:23627600-23633000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr20:23627600-23633000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr20:23627600-23633400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr20:23627800-23628200	Enhancers	Fetal Thymus	thymus

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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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