Variant report

Variant	rs73601530
Chromosome Location	chr8:19718972-19718973
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs60165673	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73597632	0.83[AMR][1000 genomes]
rs73597633	0.83[AMR][1000 genomes]
rs73601525	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73601536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73607736	0.83[AMR][1000 genomes]
rs7832264	0.88[AFR][1000 genomes];1.00[AMR][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	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv890631	chr8:19712564-19756813	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19701800-19719400	Weak transcription	Fetal Heart	heart
2	chr8:19710400-19719600	Weak transcription	Adipose Nuclei	Adipose
3	chr8:19717200-19719200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
4	chr8:19717200-19719800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
5	chr8:19717400-19719200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
6	chr8:19717400-19719400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr8:19717600-19719000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:19717600-19719400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
9	chr8:19718000-19719200	Weak transcription	Fetal Brain Male	brain
10	chr8:19718200-19719000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:19718400-19719200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
12	chr8:19718400-19719400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
13	chr8:19718400-19719400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
14	chr8:19718600-19720200	Enhancers	H9 Cell Line	embryonic stem cell
15	chr8:19718600-19732200	Weak transcription	ES-WA7 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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