Variant report

Variant	rs57129948
Chromosome Location	chr2:212078686-212078687
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10164427	1.00[ASN][1000 genomes]
rs11888310	1.00[ASN][1000 genomes]
rs11900842	1.00[ASN][1000 genomes]
rs11901007	1.00[ASN][1000 genomes]
rs13398086	1.00[ASN][1000 genomes]
rs16845473	1.00[ASN][1000 genomes]
rs17738493	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6740042	1.00[ASN][1000 genomes]
rs72941695	1.00[ASN][1000 genomes]
rs72943404	1.00[ASN][1000 genomes]
rs72943455	1.00[ASN][1000 genomes]
rs72943483	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv460064	chr2:212045919-212101698	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv470511	chr2:212045919-212101698	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv584312	chr2:212045919-212101698	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv834522	chr2:212066442-212225328	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212078600-212079000	Enhancers	Rectal Mucosa Donor 29	rectum

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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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