Variant report

Variant	rs1028485
Chromosome Location	chr6:164282590-164282591
allele	A/G
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:16)

rs_ID	r²[population]
rs10806784	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4709773	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs4709775	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9295233	0.80[CEU][hapmap];0.82[EUR][1000 genomes]
rs9346974	0.81[EUR][1000 genomes]
rs9346975	0.83[EUR][1000 genomes]
rs9347798	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs9347799	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9355442	0.80[CEU][hapmap];0.83[EUR][1000 genomes]
rs9356156	0.83[EUR][1000 genomes]
rs9356159	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9356160	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9365620	0.85[CEU][hapmap]
rs9365624	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9365625	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9458911	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[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	nsv1018860	chr6:163939347-164532579	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538526	chr6:163939347-164532579	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1026707	chr6:164188210-164749206	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv538527	chr6:164188210-164749206	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv1798922	chr6:164257563-164298780	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:164275600-164287000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:164281200-164282600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr6:164281400-164282600	Enhancers	Primary hematopoietic stem cells	blood
4	chr6:164281400-164282600	Flanking Active TSS	K562	blood
5	chr6:164281800-164284000	Weak transcription	HSMMtube	muscle
6	chr6:164282000-164282600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:164282000-164283000	Weak transcription	Spleen	Spleen
8	chr6:164282000-164283200	Enhancers	NHLF	lung
9	chr6:164282000-164283400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:164282000-164284000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:164282000-164287000	Weak transcription	Right Ventricle	heart
12	chr6:164282000-164287200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:164282200-164282600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:164282200-164282600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:164282200-164284000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr6:164282400-164283000	Weak transcription	Fetal Brain Male	brain
17	chr6:164282400-164283800	Weak transcription	NH-A	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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