Variant report

Variant	rs12095308
Chromosome Location	chr1:217146304-217146305
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10492955	1.00[EUR][1000 genomes]
rs1126020	1.00[EUR][1000 genomes]
rs12088511	1.00[EUR][1000 genomes]
rs12095404	1.00[EUR][1000 genomes]
rs17043992	1.00[EUR][1000 genomes]
rs1865919	1.00[EUR][1000 genomes]
rs2818749	1.00[EUR][1000 genomes]
rs2818750	1.00[EUR][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	nsv468149	chr1:217134966-217203091	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv549204	chr1:217134966-217203091	Weak transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv428610	chr1:217143317-217307243	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:217143800-217149000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr1:217144600-217147600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:217145800-217146800	Enhancers	Right Ventricle	heart
4	chr1:217146200-217146400	Enhancers	Pancreas	Pancrea

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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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