Variant report

Variant	rs627002
Chromosome Location	chr4:20505542-20505543
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs478351	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs490478	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs504337	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs522501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs530152	1.00[ASN][1000 genomes]
rs531297	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs543593	0.91[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs571367	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs571373	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs596267	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs614026	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs631901	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs666088	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67186031	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6810790	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs684278	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];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:15 , 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	chr4:20495600-20507200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:20496000-20507800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:20498400-20512200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:20500400-20512000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:20503400-20507800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:20503400-20512000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:20504600-20513800	Weak transcription	Fetal Lung	lung
15	chr4:20505400-20507000	Strong transcription	NHDF-Ad	bronchial

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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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