Variant report

Variant	rs4493494
Chromosome Location	chr4:30836543-30836544
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10517219	0.81[AMR][1000 genomes]
rs12331633	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13108018	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1374658	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4235010	0.81[AMR][1000 genomes]
rs4235011	0.81[EUR][1000 genomes]
rs4527444	0.81[EUR][1000 genomes]
rs4619848	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4692105	0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7434610	0.82[EUR][1000 genomes]
rs7678055	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7692210	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv4285	chr4:30815642-30838784	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv878810	chr4:30823157-30987395	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv998450	chr4:30823631-31628179	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:30830200-30838400	Weak transcription	Fetal Stomach	stomach
2	chr4:30830600-30837800	Weak transcription	NH-A	brain
3	chr4:30830800-30838400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:30833400-30842800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:30834600-30836800	Weak transcription	Right Ventricle	heart
6	chr4:30834600-30838000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr4:30834800-30838600	Enhancers	Fetal Heart	heart
8	chr4:30835000-30836600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr4:30835000-30837000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr4:30835200-30837000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:30835200-30838400	Weak transcription	Left Ventricle	heart
12	chr4:30835200-30842800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr4:30835400-30838400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr4:30835800-30837200	Enhancers	Aorta	Aorta
15	chr4:30836200-30837200	Weak transcription	Colon Smooth Muscle	Colon
16	chr4:30836400-30838600	Weak transcription	Fetal Lung	lung

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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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