Variant report

Variant	rs56147294
Chromosome Location	chr5:59914014-59914015
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs56814521	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59913390	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6891519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759329	1.00[AMR][1000 genomes]
rs73759337	1.00[AMR][1000 genomes]
rs73759359	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759368	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759369	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759370	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759371	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759381	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759382	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73759383	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	nsv1025856	chr5:59188419-59928852	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv598288	chr5:59627555-60003460	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv492277	chr5:59905195-60180834	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59887600-59925800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:59891200-59926200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:59894400-59926600	Weak transcription	Thymus	Thymus
4	chr5:59894800-59933600	Weak transcription	Hela-S3	cervix
5	chr5:59899400-59928000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr5:59899800-59924800	Weak transcription	HepG2	liver
7	chr5:59902200-59924800	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr5:59909200-59927000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:59909400-59928800	Weak transcription	HMEC	breast
10	chr5:59910000-59921200	Weak transcription	Dnd41	blood
11	chr5:59910000-59925000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:59910000-59925000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:59911800-59923600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:59911800-59924200	Weak transcription	Placenta	Placenta
15	chr5:59911800-59926000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr5:59911800-59926000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr5:59911800-59926200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr5:59912000-59924600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:59912400-59915400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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