Variant report

Variant	rs12795538
Chromosome Location	chr11:45361155-45361156
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12418562	1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1989169	0.86[ASN][1000 genomes]
rs4755979	0.86[ASN][1000 genomes]
rs896334	0.86[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	nsv530619	chr11:45294176-45553928	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12795538	RP11-430H10.1	cis	Esophagus Muscularis	GTEx

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45355600-45361200	Weak transcription	Fetal Stomach	stomach
2	chr11:45357400-45361400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:45358400-45361200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr11:45359400-45362200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr11:45359800-45361400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr11:45359800-45361600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:45359800-45361600	Weak transcription	NHEK	skin
8	chr11:45359800-45361800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:45360000-45361400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:45360000-45361800	Weak transcription	HMEC	breast
11	chr11:45360600-45362400	Enhancers	Fetal Brain Male	brain
12	chr11:45360800-45361200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:45360800-45361400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr11:45360800-45361600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr11:45361000-45361200	Enhancers	Fetal Brain Female	brain
16	chr11:45361000-45361200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
17	chr11:45361000-45361400	Enhancers	Fetal Kidney	kidney
18	chr11:45361000-45361400	Enhancers	GM12878-XiMat	blood
19	chr11:45361000-45362200	Enhancers	Fetal Muscle Leg	muscle

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

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