Variant report

Variant	rs2383304
Chromosome Location	chr14:32917431-32917432
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:17)

rs_ID	r²[population]
rs11156747	1.00[ASN][1000 genomes]
rs11621072	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11622937	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11623071	1.00[ASN][1000 genomes]
rs12881167	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12882489	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12886529	1.00[ASN][1000 genomes]
rs12886735	0.86[ASN][1000 genomes]
rs12894356	0.93[ASN][1000 genomes]
rs17410904	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1951187	1.00[ASN][1000 genomes]
rs1957014	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34757755	1.00[ASN][1000 genomes]
rs34976846	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61981143	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs941745	1.00[ASN][1000 genomes]
rs941749	1.00[ASN][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	esv2758352	chr14:32858480-33016442	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv2759978	chr14:32858480-33016442	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32908600-32920200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr14:32908600-32920200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr14:32908800-32919000	Weak transcription	Right Ventricle	heart
4	chr14:32909000-32919000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr14:32909000-32919000	Weak transcription	Ovary	ovary
6	chr14:32909000-32923400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr14:32911800-32918800	Weak transcription	Aorta	Aorta
8	chr14:32914400-32919200	Weak transcription	Brain Hippocampus Middle	brain
9	chr14:32914400-32923000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr14:32916200-32917600	Enhancers	Brain Cingulate Gyrus	brain
11	chr14:32916200-32917600	Enhancers	Fetal Lung	lung
12	chr14:32916400-32920200	Enhancers	Colon Smooth Muscle	Colon
13	chr14:32916400-32921000	Enhancers	Brain Substantia Nigra	brain
14	chr14:32916800-32919400	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr14:32917000-32918800	Weak transcription	Fetal Heart	heart
16	chr14:32917200-32917600	Enhancers	Brain Angular Gyrus	brain
17	chr14:32917400-32919000	Weak transcription	Brain Anterior Caudate	brain

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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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