Variant report

Variant	rs73281380
Chromosome Location	chr14:39349956-39349957
allele	G/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:12)

rs_ID	r²[population]
rs11625132	0.83[AFR][1000 genomes]
rs2064957	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2064958	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56718542	0.85[AFR][1000 genomes]
rs57949090	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277171	1.00[AMR][1000 genomes]
rs73277188	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281343	0.80[AFR][1000 genomes]
rs73281360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281378	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8006698	1.00[AFR][1000 genomes];1.00[AMR][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	nsv564416	chr14:39140536-39440106	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv470631	chr14:39153764-39440106	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv932194	chr14:39173578-39411337	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39339000-39350200	Weak transcription	Brain Anterior Caudate	brain
2	chr14:39347000-39351600	Enhancers	Brain Hippocampus Middle	brain
3	chr14:39348400-39350000	Weak transcription	Placenta	Placenta
4	chr14:39349400-39350800	Enhancers	Fetal Lung	lung
5	chr14:39349600-39350200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr14:39349600-39350200	Enhancers	Left Ventricle	heart
7	chr14:39349600-39350400	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr14:39349600-39350400	Enhancers	Spleen	Spleen
9	chr14:39349600-39350400	Bivalent Enhancer	HepG2	liver
10	chr14:39349600-39350600	Enhancers	Brain Cingulate Gyrus	brain
11	chr14:39349600-39350600	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr14:39349800-39350000	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr14:39349800-39350600	Genic enhancers	Brain Substantia Nigra	brain
14	chr14:39349800-39350800	Enhancers	Fetal Stomach	stomach
15	chr14:39349800-39351200	Enhancers	HUVEC	blood vessel
16	chr14:39349800-39351600	Enhancers	Adipose Nuclei	Adipose

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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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