Variant report

Variant	rs11778329
Chromosome Location	chr8:49053165-49053166
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11776380	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11778909	0.84[AFR][1000 genomes]
rs11781302	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11783856	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13272393	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6991823	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72633941	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72633943	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72633944	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931032	chr8:48744329-49091359	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Attention deficit hyperactivity disorder	21784300	GWAS catalog

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49050000-49053400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr8:49050000-49053400	Weak transcription	NHEK	skin
3	chr8:49050000-49056400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:49050200-49055800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:49051200-49053800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:49051600-49054200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr8:49051800-49054000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr8:49051800-49058000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:49051800-49065800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:49052000-49055800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:49052800-49054400	Enhancers	Fetal Lung	lung
12	chr8:49052800-49054800	Enhancers	HSMM	muscle
13	chr8:49053000-49054000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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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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