Variant report

Variant	rs12789194
Chromosome Location	chr11:32500049-32500050
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10219285	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11031799	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11031800	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11031801	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11031813	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12271863	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12272661	1.00[ASN][1000 genomes]
rs12276814	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12277550	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12282084	0.87[EUR][1000 genomes]
rs12789525	0.90[EUR][1000 genomes]
rs12790633	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12794418	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12805730	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12808723	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17748371	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35128594	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35245711	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6508	0.82[JPT][hapmap]
rs7105964	1.00[JPT][hapmap]
rs7113208	0.90[EUR][1000 genomes]
rs7115617	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7118228	0.93[EUR][1000 genomes]
rs71466594	1.00[ASN][1000 genomes]
rs71466595	0.85[EUR][1000 genomes]
rs9300011	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9300012	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9300013	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9651595	0.93[EUR][1000 genomes];1.00[ASN][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	nsv832108	chr11:32395937-32560583	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12789194	ELP4	cis	lymphoblastoid	seeQTL
rs12789194	FLJ23152	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32499000-32501200	Enhancers	Ovary	ovary
2	chr11:32499200-32501200	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr11:32499200-32501200	Enhancers	K562	blood
4	chr11:32499200-32501800	Enhancers	Brain Germinal Matrix	brain
5	chr11:32499400-32500200	Enhancers	Right Atrium	heart
6	chr11:32499400-32502000	Enhancers	Fetal Heart	heart
7	chr11:32499600-32500400	Enhancers	Fetal Lung	lung
8	chr11:32499600-32501000	Enhancers	Fetal Kidney	kidney
9	chr11:32499600-32501000	Enhancers	Fetal Stomach	stomach
10	chr11:32499600-32501200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr11:32499600-32501200	Enhancers	Left Ventricle	heart
12	chr11:32499800-32501200	Enhancers	Fetal Muscle Leg	muscle
13	chr11:32500000-32501200	Enhancers	Fetal Brain Female	brain

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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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