Variant report

Variant	rs6114213
Chromosome Location	chr20:23627584-23627585
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:23617408..23619468-chr20:23627464..23629203,2	K562	blood:
2	chr20:23615491..23618366-chr20:23625789..23627708,2	MCF-7	breast:
3	chr20:23616713..23621069-chr20:23626234..23629659,5	K562	blood:

Variant related genes	Relation type
ENSG00000101439	Chromatin interaction

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

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

rs_ID	r²[population]
rs13037020	0.98[EUR][1000 genomes]
rs13039144	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2104005	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2145231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6036481	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6114214	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
rs6114213	CST3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:20 , 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	chr20:23625000-23627600	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr20:23626400-23627600	Enhancers	Primary hematopoietic stem cells	blood
10	chr20:23626400-23627600	Enhancers	Fetal Thymus	thymus
11	chr20:23626400-23627800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr20:23626600-23627600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr20:23626600-23628600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr20:23626800-23627600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr20:23626800-23627600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr20:23626800-23627600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr20:23627000-23627600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr20:23627200-23627600	Enhancers	HMEC	breast
19	chr20:23627400-23628200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr20:23627400-23628200	Enhancers	HepG2	liver

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