Variant report

Variant	rs55685217
Chromosome Location	chr12:48947740-48947741
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11168613	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12579133	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12580859	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12582811	0.83[ASN][1000 genomes]
rs4397895	0.90[ASN][1000 genomes]
rs4547144	0.90[ASN][1000 genomes]
rs55667337	0.81[EUR][1000 genomes]
rs55983865	0.83[EUR][1000 genomes]
rs56034252	0.80[ASN][1000 genomes]
rs61940763	0.80[ASN][1000 genomes]
rs61940766	0.80[ASN][1000 genomes]
rs61940767	0.80[ASN][1000 genomes]
rs61940768	0.80[ASN][1000 genomes]
rs61940777	0.90[ASN][1000 genomes]
rs61940779	0.90[ASN][1000 genomes]
rs61940822	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61941972	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];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	nsv427911	chr12:48670336-48979396	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv1047600	chr12:48927514-48954225	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1048307	chr12:48927514-48958949	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 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	chr12:48947600-48947800	Flanking Active TSS	Esophagus	oesophagus
2	chr12:48947600-48947800	Active TSS	K562	blood
3	chr12:48947600-48948000	Active TSS	Hela-S3	cervix
4	chr12:48947600-48948200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell

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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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