Variant report

Variant	rs7001170
Chromosome Location	chr8:39842349-39842350
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16888491	0.81[AFR][1000 genomes]
rs57570733	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs73621309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73621318	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7820968	0.83[AFR][1000 genomes]
rs7837357	0.92[YRI][hapmap]
rs7840647	0.90[AFR][1000 genomes];0.91[AMR][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	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

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39835200-39853600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:39836200-39847400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr8:39837000-39847200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:39837600-39847600	Weak transcription	Right Atrium	heart
5	chr8:39839200-39845200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr8:39840000-39842800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr8:39840400-39847800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:39842000-39842400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:39842000-39843000	Enhancers	Hela-S3	cervix
10	chr8:39842200-39843000	Enhancers	Liver	Liver

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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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