Variant report

Variant	rs530152
Chromosome Location	chr4:20511283-20511284
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:20492411..20494046-chr4:20509855..20511379,2	K562	blood:
2	chr4:20510194..20512520-chr4:20515182..20516955,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs478351	0.96[ASN][1000 genomes]
rs490478	0.96[ASN][1000 genomes]
rs504337	1.00[ASN][1000 genomes]
rs522501	0.96[ASN][1000 genomes]
rs531297	0.96[ASN][1000 genomes]
rs596267	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs614026	0.93[ASN][1000 genomes]
rs627002	1.00[ASN][1000 genomes]
rs666088	0.96[ASN][1000 genomes]
rs6810790	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs684278	0.96[ASN][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	nsv878742	chr4:20473799-20527864	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv829875	chr4:20502895-20680956	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	89 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20464600-20532600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:20489200-20529600	Weak transcription	Fetal Stomach	stomach
3	chr4:20489800-20525400	Weak transcription	Colon Smooth Muscle	Colon
4	chr4:20490800-20529600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:20492000-20534800	Weak transcription	Fetal Kidney	kidney
6	chr4:20492000-20599800	Weak transcription	Aorta	Aorta
7	chr4:20494000-20522600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:20498400-20512200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:20500400-20512000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:20503400-20512000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:20504600-20513800	Weak transcription	Fetal Lung	lung
12	chr4:20507600-20522600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr4:20508600-20514800	Weak transcription	NHEK	skin
14	chr4:20508600-20522600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:20508800-20534000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:20509000-20512600	Weak transcription	HUVEC	blood vessel
17	chr4:20509000-20513800	Weak transcription	Osteobl	bone
18	chr4:20509000-20522600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:20509400-20513600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr4:20510200-20511600	Strong transcription	NHDF-Ad	bronchial

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