Variant report

Variant	rs11063200
Chromosome Location	chr12:4592341-4592342
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10492234	0.86[ASN][1000 genomes]
rs11063178	0.81[ASN][1000 genomes]
rs59766426	0.86[ASN][1000 genomes]
rs740059	0.86[CHB][hapmap]
rs7793	0.88[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7960636	0.86[ASN][1000 genomes]
rs7965800	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7968405	0.97[ASN][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	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11063200	LAG3	cis	parietal	SCAN
rs11063200	CLSTN3	cis	cerebellum	SCAN
rs11063200	TULP3	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4586800-4596400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr12:4587200-4597200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr12:4587200-4597200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:4590000-4596200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:4590200-4597600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:4590800-4631200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:4591800-4594800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:4591800-4596200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:4592000-4594800	Enhancers	HMEC	breast
10	chr12:4592000-4595000	Enhancers	NHEK	skin
11	chr12:4592200-4592400	Enhancers	Esophagus	oesophagus
12	chr12:4592200-4592400	Enhancers	Spleen	Spleen
13	chr12:4592200-4592600	Enhancers	HepG2	liver
14	chr12:4592200-4594800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:4592200-4594800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:4592200-4594800	Enhancers	Skeletal Muscle Male	skeletal muscle

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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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