Variant report

Variant	rs16975020
Chromosome Location	chr18:39168051-39168052
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs16975004	1.00[ASN][1000 genomes]
rs16975006	0.86[ASN][1000 genomes]
rs16975007	1.00[ASN][1000 genomes]
rs16975010	0.84[AFR][1000 genomes]
rs16975012	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16975017	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16975021	0.84[AFR][1000 genomes]
rs16975022	0.82[AFR][1000 genomes]
rs16975025	0.84[AFR][1000 genomes]
rs1942063	0.84[AFR][1000 genomes]
rs1942065	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1942070	0.84[AFR][1000 genomes]
rs35462279	1.00[ASN][1000 genomes]
rs55797333	0.84[AFR][1000 genomes]
rs56812327	0.84[AFR][1000 genomes]
rs57249168	0.84[AFR][1000 genomes]
rs72905923	1.00[ASN][1000 genomes]
rs72905924	0.86[ASN][1000 genomes]
rs72905948	0.99[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72905965	0.83[AFR][1000 genomes]
rs72905967	0.84[AFR][1000 genomes]
rs72905979	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv909564	chr18:38739067-39179256	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1066869	chr18:38742896-39680723	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv543685	chr18:38742896-39680723	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv2267	chr18:39123940-39169583	Enhancers Weak transcription Strong transcription Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
5	nsv949609	chr18:39126941-40070286	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:39160800-39168400	Weak transcription	Fetal Heart	heart
2	chr18:39161000-39168600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr18:39167000-39181600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr18:39167400-39169000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr18:39167600-39168600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr18:39167800-39169000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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