Variant report

Variant	rs12564348
Chromosome Location	chr1:70917390-70917391
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12561855	0.83[ASN][1000 genomes]
rs12562375	0.85[ASN][1000 genomes]
rs12562408	0.89[ASN][1000 genomes]
rs12562432	0.83[ASN][1000 genomes]
rs12562754	0.83[ASN][1000 genomes]
rs12565977	0.82[ASN][1000 genomes]
rs55952366	0.83[ASN][1000 genomes]
rs57628127	0.83[ASN][1000 genomes]
rs58066222	0.83[ASN][1000 genomes]
rs59031466	0.81[ASN][1000 genomes]
rs61359012	0.83[ASN][1000 genomes]
rs6667807	0.86[ASN][1000 genomes]
rs74085252	0.83[ASN][1000 genomes]
rs74085262	0.86[ASN][1000 genomes]
rs74085263	0.85[ASN][1000 genomes]
rs74085264	0.83[ASN][1000 genomes]
rs74085265	0.82[ASN][1000 genomes]
rs74085266	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999219	chr1:70730556-71014911	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	nsv830137	chr1:70765921-70958718	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
3	nsv871100	chr1:70859397-70928786	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv461828	chr1:70880717-70922360	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv546456	chr1:70880717-70922360	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1002709	chr1:70916210-70939526	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70908400-70918600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:70909000-70928200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:70916800-70918000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:70917200-70925600	Weak transcription	NHDF-Ad	bronchial

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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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