Variant report

Variant	rs2059701
Chromosome Location	chr2:182853458-182853459
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10186943	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1196184	0.81[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap]
rs1196188	0.85[ASN][1000 genomes]
rs12621807	0.80[AFR][1000 genomes]
rs13405639	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13407209	0.82[CEU][hapmap];0.92[EUR][1000 genomes]
rs13424231	0.81[CHB][hapmap];0.86[CHD][hapmap];0.90[LWK][hapmap];0.83[MKK][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs16867514	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16867515	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867516	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16867517	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3106776	0.85[ASN][1000 genomes]
rs56151684	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60073171	0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs73976919	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7425890	0.94[AFR][1000 genomes]
rs9288077	0.95[AFR][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	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv834479	chr2:182738483-182905444	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv3440551	chr2:182832201-182874730	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182843400-182904000	Weak transcription	Thymus	Thymus
2	chr2:182845400-182879000	Weak transcription	Fetal Thymus	thymus
3	chr2:182850600-182853800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr2:182850600-182853800	Weak transcription	Psoas Muscle	Psoas
5	chr2:182851800-182853800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr2:182852600-182853800	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr2:182852800-182853800	Enhancers	Fetal Heart	heart
8	chr2:182853400-182853800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:182853400-182859400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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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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