Variant report

Variant	rs6878694
Chromosome Location	chr5:42461374-42461375
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11949415	1.00[AMR][1000 genomes]
rs11954925	1.00[AMR][1000 genomes]
rs1509459	1.00[AMR][1000 genomes]
rs16872562	1.00[ASW][hapmap];1.00[AMR][1000 genomes]
rs16872586	1.00[ASW][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs4346776	1.00[AMR][1000 genomes]
rs6871782	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6885346	1.00[AMR][1000 genomes]
rs7702407	1.00[ASW][hapmap];1.00[MKK][hapmap];0.89[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7702961	1.00[AMR][1000 genomes]
rs7709329	0.89[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7718944	1.00[AMR][1000 genomes]
rs7726811	0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs7730534	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs7731927	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7737776	0.93[AFR][1000 genomes];1.00[AMR][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	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	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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42450000-42466800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr5:42454800-42471800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:42455000-42469600	Weak transcription	Lung	lung
4	chr5:42455000-42474400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr5:42455000-42477400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:42455200-42461600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr5:42458600-42461600	Weak transcription	Fetal Lung	lung
8	chr5:42460000-42462200	Enhancers	Fetal Intestine Small	intestine
9	chr5:42461000-42462000	Enhancers	Fetal Intestine Large	intestine
10	chr5:42461000-42462200	Enhancers	Psoas Muscle	Psoas
11	chr5:42461000-42462200	Enhancers	Right Ventricle	heart
12	chr5:42461000-42463000	Enhancers	Liver	Liver
13	chr5:42461200-42461400	Enhancers	Aorta	Aorta
14	chr5:42461200-42462000	Enhancers	Adipose Nuclei	Adipose
15	chr5:42461200-42462000	Enhancers	Right Atrium	heart
16	chr5:42461200-42462200	Enhancers	Left Ventricle	heart
17	chr5:42461200-42462200	Enhancers	Ovary	ovary
18	chr5:42461200-42462200	Enhancers	Pancreas	Pancrea
19	chr5:42461200-42462200	Enhancers	Sigmoid Colon	Sigmoid Colon

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Input of quick search could be:

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

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