Variant report

Variant	rs9636960
Chromosome Location	chr21:40877030-40877031
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2837042	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34028964	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059868	chr21:40711535-41043291	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1061454	chr21:40757973-41265404	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1062088	chr21:40838027-40919253	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1067330	chr21:40841948-40879552	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv2755103	chr21:40847196-40877805	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv2756754	chr21:40857523-40966156	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	esv2758820	chr21:40857523-40966156	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40827400-40879800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr21:40836400-40894800	Weak transcription	Right Ventricle	heart
3	chr21:40848200-40895600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr21:40872600-40878400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr21:40874000-40877200	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr21:40874600-40883000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr21:40874800-40887000	Weak transcription	Aorta	Aorta
8	chr21:40875200-40890400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr21:40875400-40890200	Weak transcription	Brain Hippocampus Middle	brain
10	chr21:40875400-40890400	Weak transcription	Fetal Lung	lung
11	chr21:40875800-40895200	Weak transcription	Brain Substantia Nigra	brain
12	chr21:40875800-40898600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr21:40876400-40878000	Weak transcription	Psoas Muscle	Psoas
14	chr21:40876400-40887600	Weak transcription	Left Ventricle	heart
15	chr21:40876400-40894600	Weak transcription	Gastric	stomach
16	chr21:40876400-40897400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr21:40876600-40883000	Weak transcription	Fetal Heart	heart
18	chr21:40876600-40885000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr21:40877000-40891000	Weak transcription	Pancreas	Pancrea

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

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