Variant report

Variant	rs60197819
Chromosome Location	chr21:40153563-40153564
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs16996828	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55742027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57766236	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57775548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58581377	0.83[AMR][1000 genomes]
rs59615160	0.83[AMR][1000 genomes]
rs59774925	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7278110	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7279960	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7280243	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7283841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73442765	1.00[AMR][1000 genomes]
rs73442767	0.85[AMR][1000 genomes]
rs73442769	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73442773	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73442777	1.00[AMR][1000 genomes]
rs73442778	1.00[AMR][1000 genomes]
rs8132431	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060405	chr21:40095523-40159813	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv913740	chr21:40103951-40157124	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1060535	chr21:40114130-40155067	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1063936	chr21:40114130-40159150	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1058591	chr21:40114130-40190594	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv459258	chr21:40116044-40157124	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv587476	chr21:40116044-40157124	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv913742	chr21:40116044-40157124	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv516348	chr21:40116044-40161381	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv913743	chr21:40116044-40161381	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv1055623	chr21:40118451-40161072	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv1056485	chr21:40128875-40159813	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40147600-40158200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr21:40152000-40153600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr21:40152000-40153800	Enhancers	Hela-S3	cervix
4	chr21:40152200-40153600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr21:40152400-40153600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr21:40152400-40154000	Enhancers	HepG2	liver
7	chr21:40152600-40153600	Enhancers	Primary B cells from peripheral blood	blood
8	chr21:40152600-40153800	Enhancers	Fetal Intestine Small	intestine
9	chr21:40152600-40153800	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr21:40152600-40154000	Enhancers	Fetal Intestine Large	intestine
11	chr21:40153000-40159200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr21:40153400-40154000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr21:40153400-40154000	ZNF genes & repeats	GM12878-XiMat	blood

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

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