Variant report

Variant	rs28475339
Chromosome Location	chr8:92261101-92261102
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]
rs10089490	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10105880	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10108620	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10111757	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10112520	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10113395	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10956798	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12334299	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12334426	1.00[ASN][1000 genomes]
rs28539046	0.96[ASN][1000 genomes]
rs28539271	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62526735	0.96[ASN][1000 genomes]
rs62526740	0.96[ASN][1000 genomes]
rs62526742	0.96[ASN][1000 genomes]
rs62527422	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62527424	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62527425	1.00[EUR][1000 genomes];1.00[ASN][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	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv2758623	chr8:91974499-92273724	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv2759629	chr8:91974499-92273724	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 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	chr8:92260400-92261200	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr8:92260400-92262800	Enhancers	Fetal Lung	lung
3	chr8:92260600-92261200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr8:92260600-92261400	Enhancers	Brain Germinal Matrix	brain
5	chr8:92260600-92261800	Enhancers	Fetal Brain Male	brain
6	chr8:92260600-92262200	Enhancers	Rectal Smooth Muscle	rectum
7	chr8:92260800-92262000	Enhancers	Colon Smooth Muscle	Colon
8	chr8:92260800-92263000	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr8:92261000-92261200	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr8:92261000-92261400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:92261000-92261400	Enhancers	Fetal Kidney	kidney
12	chr8:92261000-92261600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:92261000-92261800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr8:92261000-92261800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:92261000-92262000	Enhancers	Fetal Stomach	stomach
16	chr8:92261000-92262200	Enhancers	Adipose Nuclei	Adipose
17	chr8:92261000-92262400	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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