Variant report

Variant	rs12620171
Chromosome Location	chr2:56480069-56480070
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1159916	0.85[EUR][1000 genomes]
rs17190072	0.86[EUR][1000 genomes]
rs17268702	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2193478	0.91[EUR][1000 genomes]
rs4140787	0.93[EUR][1000 genomes]
rs4671277	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4672097	0.93[EUR][1000 genomes]
rs4672098	0.99[EUR][1000 genomes]
rs4672099	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4672103	0.86[ASN][1000 genomes]
rs56399326	0.91[EUR][1000 genomes]
rs6754349	0.91[EUR][1000 genomes]
rs8179803	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[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	nsv874162	chr2:56255832-56480571	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv530516	chr2:56447922-56633505	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56473000-56487200	Weak transcription	HSMM	muscle
2	chr2:56477000-56483800	Weak transcription	Right Ventricle	heart
3	chr2:56477200-56487400	Weak transcription	Psoas Muscle	Psoas

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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