Variant report

Variant	rs3010850
Chromosome Location	chr1:221989518-221989519
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11577677	0.88[EUR][1000 genomes]
rs11590053	0.86[EUR][1000 genomes]
rs17010889	0.86[EUR][1000 genomes]
rs4418610	0.85[EUR][1000 genomes]
rs4551601	0.85[EUR][1000 genomes]
rs4639769	0.89[EUR][1000 genomes]
rs61825191	0.89[EUR][1000 genomes]
rs61825193	0.87[EUR][1000 genomes]
rs61825195	0.85[EUR][1000 genomes]
rs7514382	0.85[EUR][1000 genomes]
rs7515604	0.85[EUR][1000 genomes]
rs7544656	0.85[EUR][1000 genomes]
rs9441877	0.87[EUR][1000 genomes]
rs9441974	0.88[EUR][1000 genomes]
rs9441979	0.85[EUR][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	nsv469786	chr1:221855871-222040335	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv482867	chr1:221855871-222040335	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1002463	chr1:221863355-222095773	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535302	chr1:221863355-222095773	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv873201	chr1:221956626-222007535	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	1 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	chr1:221967400-222009800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:221984000-221990000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:221984400-221989600	Weak transcription	HSMM	muscle
4	chr1:221984400-221989800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:221984600-221989800	Weak transcription	Osteobl	bone
6	chr1:221984600-221990000	Weak transcription	NHLF	lung
7	chr1:221984600-221997200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:221984800-221989600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr1:221984800-221989600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:221984800-221989600	Weak transcription	NHEK	skin
11	chr1:221984800-221989800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:221984800-221990000	Weak transcription	NH-A	brain
13	chr1:221985800-221991200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:221987600-221990200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:221989000-221991000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:221989200-221989600	Weak transcription	HMEC	breast

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dbSNP/dbVar ID: rs12345 /nsv7879
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