Variant report

Variant	rs5030411
Chromosome Location	chr11:36533753-36533754
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Variant related genes	Relation type
RAG1	TF binding region
TRAF6	TF binding region
ENSG00000175104	Chromatin interaction
ENSG00000166349	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10742375	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11033674	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs331436	0.89[CEU][hapmap]
rs4480521	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs5030454	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs5030459	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6484860	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6484861	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7931252	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[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	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs5030411	ANTXR1	trans	cerebellum	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36532600-36534000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr11:36532600-36534200	Enhancers	HepG2	liver
3	chr11:36532600-36534200	Enhancers	HUVEC	blood vessel
4	chr11:36532600-36534600	Enhancers	Fetal Intestine Large	intestine
5	chr11:36532600-36534800	Enhancers	Fetal Intestine Small	intestine
6	chr11:36532600-36535400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr11:36532800-36534000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr11:36532800-36534000	Enhancers	NHEK	skin
9	chr11:36533000-36534000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:36533600-36533800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:36533600-36533800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:36533600-36533800	Enhancers	Osteobl	bone
13	chr11:36533600-36534000	Enhancers	Duodenum Mucosa	Duodenum
14	chr11:36533600-36534000	Enhancers	Fetal Heart	heart
15	chr11:36533600-36534000	Enhancers	NH-A	brain

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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