Variant report

Variant	rs1111349
Chromosome Location	chr21:16648431-16648432
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1111348	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11701699	1.00[ASN][1000 genomes]
rs1304524	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2823195	1.00[ASN][1000 genomes]
rs2823197	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2823199	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2823202	1.00[ASN][1000 genomes]
rs2823204	1.00[ASN][1000 genomes]
rs4817784	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8128057	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8128542	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9305576	1.00[ASN][1000 genomes]
rs969146	1.00[JPT][hapmap]

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	nsv1063385	chr21:16521617-16926212	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1056659	chr21:16646531-16709391	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1111349	USP25	cis	normal skin	skin_eQTL

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16636200-16653200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr21:16646600-16649000	Enhancers	Primary hematopoietic stem cells	blood
3	chr21:16647000-16649000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr21:16647600-16650400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr21:16647800-16649000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr21:16647800-16649000	Enhancers	HSMM	muscle
7	chr21:16648000-16648600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr21:16648000-16648800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr21:16648000-16648800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr21:16648000-16648800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr21:16648000-16648800	Enhancers	Placenta Amnion	Placenta Amnion
12	chr21:16648000-16649000	Enhancers	Adipose Nuclei	Adipose
13	chr21:16648000-16649000	Enhancers	Placenta	Placenta
14	chr21:16648000-16649000	Enhancers	HMEC	breast
15	chr21:16648200-16648800	Enhancers	HepG2	liver
16	chr21:16648200-16649000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr21:16648200-16649000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr21:16648200-16651400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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