Variant report

Variant	rs759779
Chromosome Location	chr2:206064210-206064211
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs13425339	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1921778	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1921790	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1921796	0.88[AMR][1000 genomes]
rs2161027	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3856508	0.81[AMR][1000 genomes]
rs6435278	0.88[AMR][1000 genomes]
rs6722362	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs6730457	0.88[AMR][1000 genomes]
rs6746095	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6750663	0.88[AMR][1000 genomes]
rs6752947	0.82[AMR][1000 genomes]
rs7560089	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7583368	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7597894	0.94[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1010210	chr2:205489653-206076013	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv16739	chr2:205898770-206127984	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
5	nsv1000779	chr2:205969138-206064554	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv1009424	chr2:205969138-206078240	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
7	nsv525418	chr2:205969220-206077607	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
8	nsv875730	chr2:206057649-206093367	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:206058800-206081400	Weak transcription	Ovary	ovary
2	chr2:206060400-206064600	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr2:206062000-206064600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:206062800-206064800	Enhancers	K562	blood
5	chr2:206063000-206064600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:206063000-206065000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr2:206063200-206065400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr2:206063400-206064600	Enhancers	HUVEC	blood vessel
9	chr2:206063400-206065800	Weak transcription	NH-A	brain
10	chr2:206063400-206066200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:206063400-206067000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr2:206063600-206076800	Weak transcription	HSMM	muscle
13	chr2:206064000-206067000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:206064200-206064400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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