Variant report

Variant	rs73782819
Chromosome Location	chr5:125054864-125054865
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs59017909	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6885409	1.00[AMR][1000 genomes]
rs73782803	0.87[AFR][1000 genomes]
rs73782804	0.87[AFR][1000 genomes]
rs73782814	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73782815	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73782816	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73782820	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73786019	0.87[AFR][1000 genomes]
rs7733263	1.00[AMR][1000 genomes]
rs7733483	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030992	chr5:124708549-125391503	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv537892	chr5:124708549-125391503	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv534468	chr5:124943170-125634960	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv521940	chr5:125049170-125092500	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv2758014	chr5:125050863-125287909	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv2759376	chr5:125050863-125287909	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr5:125021800-125055400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:125049200-125055000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr5:125049400-125055200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr5:125050000-125056600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:125051000-125057200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:125051600-125055400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:125052400-125055600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:125052600-125055200	Enhancers	HepG2	liver
9	chr5:125053200-125055000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:125053200-125055400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr5:125053400-125055000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr5:125053400-125055600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:125053600-125055400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr5:125053600-125055600	Weak transcription	NH-A	brain
15	chr5:125053800-125055200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:125053800-125056600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr5:125054000-125055600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:125054400-125055400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr5:125054800-125056000	Enhancers	Rectal Mucosa Donor 31	rectum

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

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