Variant report

Variant	rs478351
Chromosome Location	chr4:20491993-20491994
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs490478	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs504337	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs522501	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs530152	0.96[ASN][1000 genomes]
rs531297	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs543593	0.93[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs571367	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs571373	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs596267	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs614026	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs627002	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs631901	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs666088	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67186031	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6810790	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs684278	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[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	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

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20464600-20532600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:20465000-20495000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr4:20466800-20495000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:20480200-20493400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:20484800-20495200	Weak transcription	NHLF	lung
6	chr4:20488200-20493000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:20489200-20529600	Weak transcription	Fetal Stomach	stomach
8	chr4:20489600-20495000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr4:20489800-20493400	Weak transcription	NHDF-Ad	bronchial
10	chr4:20489800-20494600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr4:20489800-20525400	Weak transcription	Colon Smooth Muscle	Colon
12	chr4:20490000-20495200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:20490000-20496600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr4:20490400-20495600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:20490600-20493800	Strong transcription	Osteobl	bone
16	chr4:20490800-20495400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:20490800-20529600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:20491200-20493400	Weak transcription	Fetal Lung	lung
19	chr4:20491800-20492600	Enhancers	Rectal Smooth Muscle	rectum

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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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