Variant report

Variant	rs16872562
Chromosome Location	chr5:42434785-42434786
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11949415	1.00[AMR][1000 genomes]
rs11954925	1.00[AMR][1000 genomes]
rs1509459	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16872586	1.00[ASW][hapmap];0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs4346776	1.00[AMR][1000 genomes]
rs4866919	0.81[AFR][1000 genomes]
rs6871782	1.00[AMR][1000 genomes]
rs6878694	1.00[ASW][hapmap];1.00[AMR][1000 genomes]
rs6885346	1.00[AMR][1000 genomes]
rs7702407	1.00[ASW][hapmap];0.83[LWK][hapmap];0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs7702961	1.00[AMR][1000 genomes]
rs7709329	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs7718944	1.00[AMR][1000 genomes]
rs7726811	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs7730534	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs7731927	1.00[AMR][1000 genomes]
rs7737776	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv881375	chr5:42254097-42442715	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv948514	chr5:42270161-42519262	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42426600-42435200	Weak transcription	Fetal Muscle Leg	muscle
2	chr5:42426600-42436000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr5:42430600-42438800	Weak transcription	Aorta	Aorta
4	chr5:42431800-42434800	Weak transcription	Colon Smooth Muscle	Colon
5	chr5:42431800-42436000	Weak transcription	Fetal Lung	lung
6	chr5:42433000-42435400	Enhancers	Adipose Nuclei	Adipose
7	chr5:42433000-42437000	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr5:42433600-42435000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr5:42433600-42436600	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr5:42433600-42437000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:42433800-42435000	Enhancers	Psoas Muscle	Psoas
12	chr5:42434000-42436200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:42434000-42437000	Enhancers	Liver	Liver
14	chr5:42434400-42435000	Enhancers	Fetal Heart	heart

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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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