Variant report

Variant	rs354125
Chromosome Location	chr12:30508321-30508322
allele	G/T
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:7)

rs_ID	r²[population]
rs10843731	0.85[EUR][1000 genomes]
rs12831890	1.00[CHB][hapmap]
rs1588008	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs354131	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs354151	0.87[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs725063	1.00[CHB][hapmap]
rs7304070	1.00[CHB][hapmap]

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	nsv832360	chr12:30393329-30555693	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	esv11198	chr12:30496609-30508640	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv2754065	chr12:30499833-30560733	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv33254	chr12:30504075-30509365	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3485296	chr12:30508056-30508742	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3485285	chr12:30508109-30508713	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3485273	chr12:30508112-30508708	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv3485307	chr12:30508126-30508660	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv3393892	chr12:30508149-30508654	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv3485318	chr12:30508174-30508639	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv3485329	chr12:30508188-30508635	Weak transcription Enhancers	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	chr12:30501400-30510800	Weak transcription	Fetal Heart	heart
2	chr12:30508200-30508600	Enhancers	Placenta	Placenta

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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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