Variant report

Variant	rs1221501
Chromosome Location	chr1:193251711-193251712
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1536100	0.86[AFR][1000 genomes]
rs16835204	0.80[AFR][1000 genomes]
rs2265555	0.86[AFR][1000 genomes]
rs41305084	0.86[AFR][1000 genomes]
rs4657746	0.86[AFR][1000 genomes]
rs506721	0.86[AFR][1000 genomes]
rs551862	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56986460	0.93[AFR][1000 genomes]
rs74130935	0.80[AFR][1000 genomes]
rs74130936	0.85[AFR][1000 genomes]
rs74130937	0.86[AFR][1000 genomes]
rs74130938	0.93[AFR][1000 genomes]
rs74130939	0.93[AFR][1000 genomes]
rs74130940	0.90[AFR][1000 genomes]
rs74130941	0.86[AFR][1000 genomes]
rs74130942	0.86[AFR][1000 genomes]
rs7518409	0.80[AFR][1000 genomes]
rs7556154	0.93[AFR][1000 genomes]
rs7556241	0.93[AFR][1000 genomes]
rs817134	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs817135	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832148	chr1:193143945-193292897	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv872831	chr1:193152317-193322087	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1001174	chr1:193186758-193363372	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 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	chr1:193218600-193258200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:193222400-193253800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:193229000-193254800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:193235400-193252000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:193235400-193252200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:193239800-193254600	Weak transcription	HSMM	muscle
7	chr1:193241000-193251800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr1:193243800-193254400	Weak transcription	HSMMtube	muscle
9	chr1:193243800-193267800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:193245000-193252000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:193245400-193253200	Weak transcription	Primary T cells from cord blood	blood
12	chr1:193250200-193257800	Weak transcription	NHDF-Ad	bronchial
13	chr1:193251200-193252200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:193251400-193251800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:193251600-193252800	Enhancers	H9 Cell Line	embryonic stem cell
16	chr1:193251600-193252800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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

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