Variant report

Variant	rs12282742
Chromosome Location	chr11:18265799-18265800
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Variant related genes	Relation type
ENSG00000200336	Chromatin interaction
ENSG00000134339	Chromatin interaction
ENSG00000134333	Chromatin interaction
ENSG00000110768	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs3758946	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];0.80[AMR][1000 genomes]
rs3781945	1.00[LWK][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	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv428569	chr11:18194030-18350869	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Bipolar disorder and schizophrenia	20889312	GWAS catalog

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18258800-18265800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:18259600-18266600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr11:18260000-18278200	Weak transcription	Aorta	Aorta
4	chr11:18265400-18265800	Enhancers	Primary T cells fromperipheralblood	blood
5	chr11:18265400-18265800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr11:18265400-18265800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:18265600-18265800	Enhancers	Primary B cells from peripheral blood	blood
8	chr11:18265600-18265800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr11:18265600-18265800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr11:18265600-18265800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:18265600-18265800	Flanking Active TSS	Stomach Mucosa	stomach
12	chr11:18265600-18265800	Enhancers	NHEK	skin
13	chr11:18265600-18266000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:18265600-18266000	Enhancers	Hela-S3	cervix
15	chr11:18265600-18266200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr11:18265600-18267000	Enhancers	GM12878-XiMat	blood
17	chr11:18265600-18267400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:18265600-18268800	Enhancers	HMEC	breast

Quick Search:

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

what's new

Quick links