Variant report

Variant	rs16861544
Chromosome Location	chr1:168753076-168753077
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs16861540	1.00[AMR][1000 genomes]
rs16861543	0.82[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16861545	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16861558	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16861563	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2206297	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2206298	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57305392	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73028610	1.00[AMR][1000 genomes]
rs73036041	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73036057	1.00[AMR][1000 genomes]
rs73038220	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73038237	0.87[AFR][1000 genomes]
rs73043974	1.00[AMR][1000 genomes]
rs7515871	1.00[AMR][1000 genomes]
rs7516889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	nsv831847	chr1:168669877-168850129	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr1:168751600-168754200	Enhancers	Hela-S3	cervix
2	chr1:168752000-168754400	Enhancers	Fetal Lung	lung
3	chr1:168752200-168753400	Enhancers	Colon Smooth Muscle	Colon
4	chr1:168752400-168753200	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr1:168752400-168754000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:168752600-168753400	Enhancers	Fetal Stomach	stomach
7	chr1:168752600-168754200	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr1:168752600-168754600	Enhancers	Adipose Nuclei	Adipose
9	chr1:168752800-168753200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:168752800-168753400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr1:168752800-168753400	Enhancers	Ovary	ovary
12	chr1:168752800-168753400	Enhancers	Psoas Muscle	Psoas
13	chr1:168752800-168753400	Enhancers	HSMMtube	muscle
14	chr1:168752800-168754200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:168752800-168754600	Enhancers	Rectal Smooth Muscle	rectum
16	chr1:168753000-168753800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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