Variant report

Variant	rs56068469
Chromosome Location	chr2:111786637-111786638
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11123312	0.86[ASN][1000 genomes]
rs11687123	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13012948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13025923	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17041761	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1976055	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35761487	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs35816855	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3789076	0.85[ASN][1000 genomes]
rs3789086	0.86[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs3789087	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3789088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3827541	0.85[ASN][1000 genomes]
rs59554295	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72834597	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72836307	0.84[EUR][1000 genomes];0.89[ASN][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	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874839	chr2:111400934-111868010	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv834330	chr2:111593290-111789447	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111775200-111787800	Weak transcription	Spleen	Spleen
2	chr2:111782000-111786800	Weak transcription	Primary B cells from cord blood	blood
3	chr2:111784600-111787400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:111785000-111787600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:111785600-111790200	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr2:111786000-111795800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr2:111786200-111786800	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr2:111786200-111792400	Enhancers	Fetal Lung	lung
9	chr2:111786400-111788200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:111786400-111790400	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr2:111786600-111787800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:111786600-111788000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr2:111786600-111788200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr2:111786600-111788600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr2:111786600-111790600	Enhancers	Duodenum Mucosa	Duodenum

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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