Variant report

Variant	rs1304338
Chromosome Location	chr14:33088215-33088216
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12050460	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12586862	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17099418	0.83[EUR][1000 genomes]
rs3784204	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3784205	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3825753	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56219736	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72642562	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72642563	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72642564	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72642565	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045035	chr14:32986003-33543227	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv542021	chr14:32986003-33543227	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv428624	chr14:33065571-33214223	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:33072200-33103600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr14:33072400-33091800	Weak transcription	Left Ventricle	heart
3	chr14:33078800-33097000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr14:33078800-33098200	Weak transcription	Fetal Muscle Leg	muscle
5	chr14:33078800-33102600	Weak transcription	Aorta	Aorta
6	chr14:33080000-33104200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr14:33081200-33089600	Weak transcription	Fetal Heart	heart
8	chr14:33081400-33092800	Weak transcription	Brain Substantia Nigra	brain
9	chr14:33081600-33090200	Weak transcription	HSMMtube	muscle
10	chr14:33081600-33091800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr14:33081600-33091800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr14:33084000-33089200	Weak transcription	Adipose Derived Mesenchymal Stem Cell 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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