Variant report

Variant	rs11618461
Chromosome Location	chr13:30318520-30318521
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11618361	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3783244	0.83[AMR][1000 genomes]
rs4769022	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs720083	0.85[AMR][1000 genomes]
rs9579483	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899961	chr13:30226924-30407273	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30316400-30320400	Weak transcription	Duodenum Mucosa	Duodenum
2	chr13:30317000-30318600	Enhancers	Colon Smooth Muscle	Colon
3	chr13:30317200-30320200	Enhancers	Rectal Smooth Muscle	rectum
4	chr13:30317400-30319000	Enhancers	Lung	lung
5	chr13:30317600-30319000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr13:30317600-30319000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr13:30317600-30320000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr13:30317600-30324200	Weak transcription	Adipose Nuclei	Adipose
9	chr13:30317600-30335800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr13:30317800-30319000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr13:30317800-30319000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr13:30318000-30318600	Enhancers	Stomach Smooth Muscle	stomach
13	chr13:30318000-30320200	Weak transcription	Stomach Mucosa	stomach

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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