Variant report

Variant	rs62364580
Chromosome Location	chr5:93702749-93702750
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17489155	1.00[AFR][1000 genomes]
rs62364565	1.00[AFR][1000 genomes]
rs62364567	1.00[AFR][1000 genomes]
rs62364569	1.00[AFR][1000 genomes]
rs62364574	1.00[AFR][1000 genomes]
rs62364576	1.00[AFR][1000 genomes]
rs62364577	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs62364581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62364582	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs62364583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62364584	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs62364585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62364586	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs62364615	1.00[AFR][1000 genomes]
rs62364618	1.00[AFR][1000 genomes]
rs62366057	1.00[AFR][1000 genomes]
rs62367162	1.00[AFR][1000 genomes]
rs62367166	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023191	chr5:93351646-93947928	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv537808	chr5:93351646-93947928	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv2753025	chr5:93356544-93812844	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1027890	chr5:93584978-93873704	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
5	nsv537809	chr5:93584978-93873704	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv518161	chr5:93643170-93789309	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv523867	chr5:93643170-93789309	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv598950	chr5:93666346-93788579	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv1023421	chr5:93679661-93911066	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93674200-93716400	Weak transcription	Hela-S3	cervix
2	chr5:93682200-93775800	Weak transcription	Ovary	ovary
3	chr5:93696400-93765400	Weak transcription	Aorta	Aorta
4	chr5:93698000-93707800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:93699800-93708200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:93701200-93703200	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr5:93702000-93704000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:93702000-93704000	Enhancers	HMEC	breast
9	chr5:93702200-93704000	Enhancers	NHEK	skin
10	chr5:93702200-93704200	Enhancers	Stomach Mucosa	stomach
11	chr5:93702200-93705600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr5:93702400-93703200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:93702600-93703000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr5:93702600-93704000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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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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