Variant report

Variant	rs9979187
Chromosome Location	chr21:44988356-44988357
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11701518	0.85[ASN][1000 genomes]
rs11701746	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1436291	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1595167	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1836854	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1836855	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1836856	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2876854	0.85[ASN][1000 genomes]
rs4819212	0.86[EUR][1000 genomes]
rs4819219	0.85[ASN][1000 genomes]
rs56369437	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6417729	0.85[ASN][1000 genomes]
rs6518268	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7278003	0.85[ASN][1000 genomes]
rs7278282	0.85[ASN][1000 genomes]
rs7282704	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7283362	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8131020	0.85[ASN][1000 genomes]
rs9977258	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv913873	chr21:44879869-45142427	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv1061539	chr21:44915533-45041824	Weak transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv1067171	chr21:44921187-45039471	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv521700	chr21:44925334-45041790	Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
5	nsv470903	chr21:44925334-45061501	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
6	nsv459289	chr21:44925334-45064600	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
7	nsv587690	chr21:44925334-45064600	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
8	nsv1065359	chr21:44967209-45029878	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv3537	chr21:44967340-45013104	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44980400-44998400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr21:44983000-44991800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr21:44983000-44993400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr21:44984000-44990600	Weak transcription	Fetal Brain Female	brain
5	chr21:44985000-44991200	Weak transcription	Adipose Nuclei	Adipose
6	chr21:44987200-44994600	Weak transcription	Spleen	Spleen
7	chr21:44987200-45005000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr21:44987200-45005000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr21:44987400-44988400	Active TSS	HSMMtube	muscle
10	chr21:44988000-44993800	Enhancers	Fetal Muscle Leg	muscle
11	chr21:44988200-44993200	Enhancers	HSMM	muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
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