Variant report

Variant	rs74060343
Chromosome Location	chr14:71768226-71768227
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs55763740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55898000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56373366	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59476175	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59553790	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60615402	1.00[AMR][1000 genomes]
rs61336865	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060325	1.00[AMR][1000 genomes]
rs74060342	1.00[AMR][1000 genomes]
rs74060348	1.00[AMR][1000 genomes]
rs74060350	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060357	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060360	1.00[AMR][1000 genomes]
rs74060363	0.81[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	nsv1044090	chr14:71496198-71780026	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv832827	chr14:71676178-71833519	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71758400-71770000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:71758600-71772800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr14:71762400-71771400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr14:71763200-71771400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:71767800-71769600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr14:71768000-71768400	Enhancers	Osteobl	bone
7	chr14:71768000-71769400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:71768200-71769000	Enhancers	Brain Substantia Nigra	brain
9	chr14:71768200-71769200	Enhancers	Cortex derived primary cultured neurospheres	brain

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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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