Variant report

Variant	rs71301848
Chromosome Location	chr3:53723091-53723092
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13062035	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13086947	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs14165	1.00[ASN][1000 genomes]
rs17053338	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34565662	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34723699	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36006337	1.00[ASN][1000 genomes]
rs36077841	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4687586	1.00[ASN][1000 genomes]
rs4687587	1.00[ASN][1000 genomes]
rs62250900	1.00[ASN][1000 genomes]
rs62621128	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6445606	1.00[ASN][1000 genomes]
rs71301847	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs893362	1.00[ASN][1000 genomes]
rs920252	1.00[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	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1001128	chr3:53659570-53927842	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1013783	chr3:53694418-53934781	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53683200-53744200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr3:53715600-53739600	Weak transcription	Brain Anterior Caudate	brain
3	chr3:53717200-53726600	Weak transcription	Fetal Intestine Large	intestine
4	chr3:53717200-53727200	Weak transcription	Fetal Lung	lung
5	chr3:53721000-53739800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr3:53722200-53723200	Enhancers	Fetal Muscle Leg	muscle
7	chr3:53722200-53723600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:53722200-53725400	Strong transcription	Fetal Intestine Small	intestine
9	chr3:53722400-53723400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr3:53723000-53723200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:53723000-53723200	Bivalent Enhancer	Fetal Stomach	stomach
12	chr3:53723000-53724200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr3:53723000-53724400	Enhancers	Placenta	Placenta

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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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