Variant report

Variant	rs10873978
Chromosome Location	chr1:78821497-78821498
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10782664	0.82[JPT][hapmap]
rs10873979	0.81[JPT][hapmap]
rs10873980	0.82[JPT][hapmap]
rs11162476	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11162477	0.82[JPT][hapmap]
rs11162479	0.82[JPT][hapmap]
rs1156031	0.82[JPT][hapmap]
rs12122274	0.90[JPT][hapmap]
rs12132664	0.82[JPT][hapmap];0.80[YRI][hapmap]
rs12733301	0.82[JPT][hapmap]
rs12742293	0.82[JPT][hapmap]
rs12752083	0.82[JPT][hapmap]
rs1328447	0.82[JPT][hapmap]
rs1333070	0.82[JPT][hapmap];0.80[YRI][hapmap]
rs1831168	0.82[JPT][hapmap]
rs4650348	0.82[JPT][hapmap]
rs473910	0.82[JPT][hapmap]
rs494981	0.82[JPT][hapmap]

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	nsv1013008	chr1:78463173-78958701	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv535012	chr1:78463173-78958701	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv482697	chr1:78786028-78935333	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78810200-78833200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:78821000-78821800	Enhancers	Ovary	ovary
3	chr1:78821000-78822000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:78821200-78821600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:78821200-78821800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:78821200-78821800	Enhancers	Rectal Smooth Muscle	rectum
7	chr1:78821200-78822000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:78821200-78822000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:78821200-78822000	Enhancers	Fetal Lung	lung
10	chr1:78821200-78822400	Enhancers	NHDF-Ad	bronchial
11	chr1:78821400-78821800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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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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