Variant report

Variant	rs73129621
Chromosome Location	chr5:76039169-76039170
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs2227748	1.00[AMR][1000 genomes]
rs2227782	1.00[AMR][1000 genomes]
rs2227796	1.00[AMR][1000 genomes]
rs58133545	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73125568	1.00[AMR][1000 genomes]
rs73125594	1.00[AMR][1000 genomes]
rs73127570	1.00[AMR][1000 genomes]
rs73129610	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73129622	1.00[AMR][1000 genomes]
rs73129664	1.00[AMR][1000 genomes]
rs73131635	1.00[AMR][1000 genomes]
rs73131647	1.00[AMR][1000 genomes]
rs7713797	1.00[AFR][1000 genomes];1.00[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	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1035135	chr5:75927027-76092058	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:76026400-76042800	Weak transcription	Right Atrium	heart
2	chr5:76030000-76040200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr5:76030400-76040200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr5:76030600-76039400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:76030600-76040200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:76030600-76040400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr5:76030600-76046600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:76030800-76040200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr5:76034600-76040400	Weak transcription	Small Intestine	intestine
10	chr5:76035600-76043600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr5:76035800-76046400	Weak transcription	HepG2	liver
12	chr5:76037800-76039600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:76038000-76039200	Enhancers	NHDF-Ad	bronchial
14	chr5:76038200-76040600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:76038800-76041400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:76039000-76040000	Weak transcription	Fetal Lung	lung

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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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