Variant report

Variant	rs6834223
Chromosome Location	chr4:76974985-76974986
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11097213	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12500868	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12504339	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35028295	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4508917	0.84[CHB][hapmap];0.83[JPT][hapmap]
rs6532116	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6532173	0.82[ASN][1000 genomes]
rs7698149	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9307071	0.82[ASN][1000 genomes]
rs9995300	0.89[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1004627	chr4:76793910-76999584	Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	esv19222	chr4:76948569-76977780	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6834223	ART3	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76965000-76977400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:76971200-76975000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr4:76973400-76975000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr4:76974600-76975600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr4:76974600-76976000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:76974800-76975000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr4:76974800-76975000	Enhancers	Brain Substantia Nigra	brain
8	chr4:76974800-76975000	Enhancers	Fetal Intestine Small	intestine
9	chr4:76974800-76975200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:76974800-76975200	Enhancers	Brain Anterior Caudate	brain
11	chr4:76974800-76975200	Flanking Active TSS	Brain Cingulate Gyrus	brain
12	chr4:76974800-76975200	Enhancers	Brain Hippocampus Middle	brain
13	chr4:76974800-76975200	Enhancers	Fetal Lung	lung
14	chr4:76974800-76975400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:76974800-76975600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr4:76974800-76975600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr4:76974800-76975600	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr4:76974800-76975600	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr4:76974800-76975800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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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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