Variant report

Variant	rs730857
Chromosome Location	chr14:40114247-40114248
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10132609	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10151684	0.81[ASN][1000 genomes]
rs10151939	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12437398	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17109471	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3888878	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4349062	0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4902829	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4902865	0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs73281134	0.93[ASN][1000 genomes]
rs74049072	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs744509	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3523177	chr14:39875036-40128325	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	esv3523178	chr14:39875036-40128325	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv915558	chr14:39944831-40165370	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv832775	chr14:40038735-40193559	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3310794	chr14:40113867-40114829	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3521888	chr14:40113902-40114834	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3374821	chr14:40113912-40114810	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3444633	chr14:40113945-40114773	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv3521886	chr14:40113947-40114769	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv3521887	chr14:40113998-40114726	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv3310795	chr14:40114002-40114724	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv3521889	chr14:40114002-40114724	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:40112200-40115200	Weak transcription	Psoas Muscle	Psoas
2	chr14:40113600-40116800	Weak transcription	Left Ventricle	heart

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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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