Variant report

Variant	rs6996015
Chromosome Location	chr8:121165786-121165787
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10101000	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10738134	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12546625	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35529075	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4282615	0.87[EUR][1000 genomes]
rs4336644	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4407920	0.86[EUR][1000 genomes]
rs4407921	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4871039	0.95[EUR][1000 genomes]
rs4871042	0.87[EUR][1000 genomes]
rs4871043	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4871044	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66488706	0.96[EUR][1000 genomes]
rs7460965	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][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	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	esv3348294	chr8:121000288-121250984	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121154600-121173800	Weak transcription	Fetal Stomach	stomach
2	chr8:121154600-121175200	Weak transcription	Aorta	Aorta
3	chr8:121155400-121170600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr8:121159600-121166600	Weak transcription	Fetal Intestine Large	intestine
5	chr8:121159600-121186200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr8:121162400-121173200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:121164800-121166400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:121165000-121166000	Enhancers	Fetal Lung	lung
9	chr8:121165000-121166800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:121165400-121165800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:121165400-121166200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:121165400-121166400	Enhancers	Placenta	Placenta
13	chr8:121165400-121166800	Enhancers	Ovary	ovary
14	chr8:121165400-121166800	Enhancers	Osteobl	bone
15	chr8:121165400-121167800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:121165600-121174600	Weak transcription	Fetal Muscle Leg	muscle
17	chr8:121165600-121176800	Weak transcription	Psoas Muscle	Psoas

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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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