Variant report

Variant	rs17718931
Chromosome Location	chr18:29595943-29595944
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12957727	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12964095	0.83[EUR][1000 genomes]
rs12967475	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34967605	0.80[EUR][1000 genomes]
rs7231175	0.80[EUR][1000 genomes]
rs7245142	0.80[EUR][1000 genomes]
rs72934839	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8083910	0.80[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	nsv1065285	chr18:29527884-29614986	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv1803283	chr18:29591102-29640430	Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
3	nsv524199	chr18:29595164-29598809	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29587000-29598000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr18:29588600-29598200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr18:29590600-29597800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr18:29590800-29596800	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr18:29591000-29596000	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr18:29593600-29598400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr18:29595400-29596200	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr18:29595800-29596000	Enhancers	Colon Smooth Muscle	Colon
9	chr18:29595800-29597400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr18:29595800-29597600	Enhancers	Primary T cells from cord blood	blood
11	chr18:29595800-29597800	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr18:29595800-29598000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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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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