Variant report

Variant	rs10133983
Chromosome Location	chr14:80057120-80057121
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10136332	0.90[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10147671	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12433645	1.00[YRI][hapmap]
rs17109661	0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs1991158	1.00[YRI][hapmap]
rs2008380	1.00[YRI][hapmap]
rs221416	1.00[YRI][hapmap]
rs221418	1.00[YRI][hapmap]
rs221423	1.00[YRI][hapmap]
rs221472	1.00[AMR][1000 genomes]
rs28409072	0.82[AFR][1000 genomes]
rs28521419	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	nsv1045241	chr14:79885361-80734201	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1039622	chr14:79908702-80266601	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv869542	chr14:80009619-80118315	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80011800-80069200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr14:80045200-80062200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:80047600-80068800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr14:80053800-80062200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr14:80054200-80060600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr14:80056000-80057400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr14:80057000-80057200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:80057000-80057200	Enhancers	H9 Cell Line	embryonic stem cell
9	chr14:80057000-80057200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
10	chr14:80057000-80057200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:80057000-80057200	Genic enhancers	Osteobl	bone
12	chr14:80057000-80057800	Enhancers	iPS-20b Cell Line	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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