Variant report

Variant	rs11241261
Chromosome Location	chr5:113395481-113395482
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11241260	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13185767	0.83[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	nsv471042	chr5:113160490-113440892	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Hippocampal sclerosis	25188341	GWAS catalog

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:113392200-113396400	Weak transcription	Brain Germinal Matrix	brain
2	chr5:113392400-113397200	Weak transcription	Pancreas	Pancrea
3	chr5:113392800-113396200	Weak transcription	Fetal Brain Male	brain
4	chr5:113393000-113395800	Enhancers	Fetal Heart	heart
5	chr5:113394000-113398400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:113394200-113398800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:113394600-113396200	Enhancers	Left Ventricle	heart
8	chr5:113394800-113395800	Weak transcription	Right Atrium	heart
9	chr5:113395400-113396200	Enhancers	Skeletal Muscle Female	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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