Variant report

Variant	rs74060316
Chromosome Location	chr14:71694830-71694831
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10139389	0.93[AFR][1000 genomes]
rs10142895	0.96[AFR][1000 genomes]
rs10220375	0.96[AFR][1000 genomes]
rs28620041	0.93[AFR][1000 genomes]
rs59046881	0.86[AFR][1000 genomes]
rs74060311	0.89[AFR][1000 genomes]
rs74062158	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	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
4	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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71680600-71702600	Weak transcription	Brain Angular Gyrus	brain
2	chr14:71687400-71699000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr14:71689000-71695000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr14:71692000-71695200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr14:71692000-71695200	Weak transcription	Brain Substantia Nigra	brain
6	chr14:71692000-71698600	Weak transcription	K562	blood
7	chr14:71694600-71695000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:71694600-71695800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr14:71694800-71695600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr14:71694800-71695800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr14:71694800-71695800	Enhancers	Pancreas	Pancrea

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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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