Variant report

Variant	rs57042721
Chromosome Location	chr2:62678618-62678619
allele	C/T
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:19)

rs_ID	r²[population]
rs11125922	0.94[EUR][1000 genomes]
rs12233114	0.87[ASN][1000 genomes]
rs12464504	0.87[ASN][1000 genomes]
rs12467359	0.95[EUR][1000 genomes]
rs12475917	0.87[ASN][1000 genomes]
rs12617681	0.94[EUR][1000 genomes]
rs34671654	0.86[ASN][1000 genomes]
rs34963581	0.87[ASN][1000 genomes]
rs35541260	0.87[ASN][1000 genomes]
rs35841420	0.87[ASN][1000 genomes]
rs4671422	0.96[EUR][1000 genomes]
rs4672522	0.95[EUR][1000 genomes]
rs6712090	0.96[EUR][1000 genomes]
rs6727349	0.96[EUR][1000 genomes]
rs6735552	0.91[EUR][1000 genomes]
rs6745837	0.93[EUR][1000 genomes]
rs71422350	0.86[ASN][1000 genomes]
rs7567407	0.96[EUR][1000 genomes]
rs7570168	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874231	chr2:62159728-62688792	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv535766	chr2:62177655-62929746	Bivalent/Poised TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv916190	chr2:62233785-63006200	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv932487	chr2:62258290-63006200	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:62657400-62683800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr2:62670200-62679600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:62670600-62679400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:62676600-62679800	Enhancers	Liver	Liver
5	chr2:62677000-62678800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr2:62677200-62678800	Enhancers	Duodenum Mucosa	Duodenum
7	chr2:62677800-62684000	Weak transcription	Colonic Mucosa	Colon
8	chr2:62678000-62680000	Weak transcription	Esophagus	oesophagus
9	chr2:62678000-62680000	Weak transcription	Gastric	stomach
10	chr2:62678000-62683600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:62678000-62683800	Weak transcription	Spleen	Spleen
12	chr2:62678200-62679000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr2:62678200-62680000	Weak transcription	Stomach Mucosa	stomach
14	chr2:62678200-62680000	Enhancers	HepG2	liver
15	chr2:62678200-62683800	Weak transcription	Pancreas	Pancrea
16	chr2:62678600-62684000	Weak transcription	Rectal Mucosa Donor 31	rectum

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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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