Variant report

Variant	rs2001493
Chromosome Location	chr8:39869314-39869315
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2955892	0.97[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2955893	0.97[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2981156	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2981157	0.93[ASN][1000 genomes]
rs4321987	0.81[ASN][1000 genomes]
rs4503083	0.82[ASN][1000 genomes]
rs57313326	0.95[ASN][1000 genomes]
rs62511408	0.83[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	nsv539555	chr8:39683857-40673606	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1033371	chr8:39749437-39899540	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1020859	chr8:39857347-39877897	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv611087	chr8:39865891-39884574	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39850600-39872800	Weak transcription	Right Atrium	heart
2	chr8:39868000-39869400	Weak transcription	Colon Smooth Muscle	Colon
3	chr8:39868000-39870200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:39868000-39879400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:39869200-39870200	Enhancers	Stomach Smooth Muscle	stomach
6	chr8:39869200-39871800	Enhancers	Ovary	ovary

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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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