Variant report

Variant	rs11994058
Chromosome Location	chr8:61426779-61426780
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11987507	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11988531	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11989127	1.00[AMR][1000 genomes]
rs11992608	1.00[AMR][1000 genomes]
rs11993479	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11996808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1534849	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55896615	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	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv971314	chr8:61359401-61436209	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61413000-61428800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:61413000-61428800	Weak transcription	Esophagus	oesophagus
3	chr8:61416600-61427800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:61422800-61428000	Weak transcription	K562	blood
5	chr8:61425000-61428600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr8:61425800-61428200	Weak transcription	Osteobl	bone
7	chr8:61426200-61428000	Weak transcription	HepG2	liver
8	chr8:61426200-61428400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:61426200-61428600	Enhancers	Placenta	Placenta
10	chr8:61426400-61428000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:61426600-61426800	Enhancers	Fetal Intestine Large	intestine
12	chr8:61426600-61426800	Enhancers	Placenta Amnion	Placenta Amnion
13	chr8:61426600-61427000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:61426600-61427400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:61426600-61428200	Weak transcription	NHEK	skin

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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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