Variant report

Variant	rs11810241
Chromosome Location	chr1:114529760-114529761
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11102711	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11580207	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12402202	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1503834	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6689205	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7549714	0.93[ASN][1000 genomes]
rs870475	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11810241	FAM46C	cis	cerebellum	SCAN
rs11810241	HIPK1	cis	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114523800-114534600	Weak transcription	Primary T cells from cord blood	blood
2	chr1:114527200-114530000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:114527800-114529800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:114527800-114533000	Weak transcription	HSMMtube	muscle
5	chr1:114528000-114529800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr1:114528000-114531000	Weak transcription	Right Atrium	heart
7	chr1:114528000-114533400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr1:114528000-114536600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:114528200-114535800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr1:114528200-114540800	Weak transcription	Fetal Lung	lung
11	chr1:114528400-114530000	Strong transcription	Fetal Stomach	stomach
12	chr1:114528800-114530200	Enhancers	Fetal Muscle Leg	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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