Variant report

Variant	rs920122
Chromosome Location	chr14:80027775-80027776
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12587614	1.00[EUR][1000 genomes]
rs17109288	1.00[AMR][1000 genomes]
rs17109308	1.00[AMR][1000 genomes]
rs17109317	1.00[AMR][1000 genomes]
rs17109321	1.00[AMR][1000 genomes]
rs17109338	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17109409	0.87[EUR][1000 genomes]
rs17109418	0.87[EUR][1000 genomes]
rs17109557	1.00[EUR][1000 genomes]
rs17109652	0.89[EUR][1000 genomes]
rs17109654	0.89[EUR][1000 genomes]
rs2371057	1.00[EUR][1000 genomes]
rs4448862	1.00[EUR][1000 genomes]
rs920123	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9806079	0.89[EUR][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	nsv1045241	chr14:79885361-80734201	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1039622	chr14:79908702-80266601	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv902112	chr14:79939393-80050771	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv869542	chr14:80009619-80118315	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80011800-80069200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr14:80014400-80037800	Weak transcription	Aorta	Aorta
3	chr14:80027200-80030400	Enhancers	Brain Germinal Matrix	brain
4	chr14:80027400-80028600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:80027400-80029000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:80027400-80029000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr14:80027400-80029600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:80027400-80034400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr14:80027600-80029400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr14:80027600-80036600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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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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