Variant report

Variant	rs11949594
Chromosome Location	chr5:4942542-4942543
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10072728	1.00[EUR][1000 genomes]
rs10074970	1.00[EUR][1000 genomes]
rs12108705	1.00[EUR][1000 genomes]
rs1551942	1.00[EUR][1000 genomes]
rs1651743	1.00[EUR][1000 genomes]
rs16874255	1.00[EUR][1000 genomes]
rs16874580	1.00[EUR][1000 genomes]
rs16874600	1.00[EUR][1000 genomes]
rs16874607	1.00[EUR][1000 genomes]
rs479124	1.00[EUR][1000 genomes]
rs55751833	1.00[EUR][1000 genomes]
rs56147613	1.00[EUR][1000 genomes]
rs57249853	1.00[EUR][1000 genomes]
rs58125360	1.00[EUR][1000 genomes]
rs595135	1.00[EUR][1000 genomes]
rs607839	1.00[EUR][1000 genomes]
rs61048069	1.00[EUR][1000 genomes]
rs670244	1.00[EUR][1000 genomes]
rs73738308	1.00[EUR][1000 genomes]
rs73738309	1.00[EUR][1000 genomes]
rs73738321	1.00[EUR][1000 genomes]
rs891002	1.00[EUR][1000 genomes]
rs891003	1.00[EUR][1000 genomes]
rs9284963	1.00[EUR][1000 genomes]
rs9313094	1.00[EUR][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	nsv1019579	chr5:4557477-4997411	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1021653	chr5:4932992-5201887	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	esv275244	chr5:4939492-4944558	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:4937800-4945600	Enhancers	Fetal Muscle Leg	muscle
2	chr5:4942000-4944000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:4942200-4942600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:4942200-4942600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr5:4942200-4942600	Enhancers	Ovary	ovary
6	chr5:4942200-4943600	Enhancers	H1 Cell Line	embryonic stem cell
7	chr5:4942400-4942600	Active TSS	Adipose Nuclei	Adipose
8	chr5:4942400-4943200	Enhancers	HUES6 Cell Line	embryonic stem cell

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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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