Variant report

Variant	rs11833630
Chromosome Location	chr12:4215788-4215789
allele	A/G
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]
rs10492325	1.00[EUR][1000 genomes]
rs11829980	1.00[EUR][1000 genomes]
rs11830453	1.00[EUR][1000 genomes]
rs11836187	0.97[EUR][1000 genomes]
rs17699732	0.89[EUR][1000 genomes]
rs17699749	0.89[EUR][1000 genomes]
rs17836511	0.84[EUR][1000 genomes]
rs2358592	0.97[EUR][1000 genomes]
rs2532534	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2724198	0.97[EUR][1000 genomes]
rs2724209	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57157801	0.81[EUR][1000 genomes]
rs7315461	0.97[EUR][1000 genomes]

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	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv976559	chr12:4206772-4216198	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11833630	NA	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4214000-4216400	Enhancers	Fetal Heart	heart
2	chr12:4215400-4217400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr12:4215600-4216000	Enhancers	H1 Cell Line	embryonic stem cell
4	chr12:4215600-4216200	Enhancers	H9 Cell Line	embryonic stem cell
5	chr12:4215600-4216200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:4215600-4216200	Enhancers	Fetal Stomach	stomach
7	chr12:4215600-4216400	Enhancers	Fetal Thymus	thymus
8	chr12:4215600-4216600	Enhancers	GM12878-XiMat	blood
9	chr12:4215600-4217000	Enhancers	Primary T cells from cord blood	blood
10	chr12:4215600-4217000	Enhancers	Primary hematopoietic stem cells	blood
11	chr12:4215600-4217200	Enhancers	Primary T cells fromperipheralblood	blood

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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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