Variant report

Variant	rs73304720
Chromosome Location	chr5:124285406-124285407
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1031205	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17254960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17448900	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17448948	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs57063427	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60383340	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6880658	0.81[EUR][1000 genomes]
rs6897935	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73302753	0.81[EUR][1000 genomes]
rs73302755	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs73302762	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs73302776	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73302778	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73302783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73302800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73304713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7736156	1.00[AFR][1000 genomes];0.81[EUR][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	nsv882822	chr5:124250018-124449375	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830474	chr5:124263628-124431299	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv599657	chr5:124284253-124330522	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124283200-124286000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:124283400-124285600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr5:124283800-124285800	Enhancers	HMEC	breast
4	chr5:124283800-124286200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr5:124284000-124285600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr5:124284000-124285600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr5:124284000-124285600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr5:124284000-124285800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr5:124284000-124285800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:124284000-124286000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr5:124284000-124286000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:124284200-124286000	Enhancers	Fetal Heart	heart
13	chr5:124284200-124301800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr5:124284600-124285600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:124284800-124294000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr5:124285000-124285600	Weak transcription	Fetal Muscle Leg	muscle
17	chr5:124285000-124287200	Weak transcription	Dnd41	blood
18	chr5:124285000-124288800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:124285400-124286800	Weak transcription	Adipose Nuclei	Adipose

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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