Variant report

Variant	rs56048171
Chromosome Location	chr3:141570026-141570027
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11707087	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11710724	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16851865	0.90[ASN][1000 genomes]
rs55704642	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55871459	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56410770	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56664943	0.90[ASN][1000 genomes]
rs58266560	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59115009	0.90[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	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1013352	chr3:141541105-141870293	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141550800-141571800	Weak transcription	Esophagus	oesophagus
2	chr3:141560600-141572600	Weak transcription	Spleen	Spleen
3	chr3:141564800-141570200	Weak transcription	Placenta	Placenta
4	chr3:141565000-141572000	Weak transcription	Adipose Nuclei	Adipose
5	chr3:141565000-141578000	Weak transcription	Fetal Intestine Small	intestine
6	chr3:141567600-141574600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr3:141568600-141572400	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr3:141568600-141572400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr3:141568600-141579600	Weak transcription	Fetal Thymus	thymus
10	chr3:141568800-141570200	Weak transcription	Lung	lung
11	chr3:141568800-141570200	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr3:141569000-141570200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr3:141569000-141570400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr3:141569000-141572000	Weak transcription	K562	blood
15	chr3:141569600-141571400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr3:141569800-141572600	Enhancers	HUVEC	blood vessel
17	chr3:141570000-141571000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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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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