Variant report

Variant	rs346269
Chromosome Location	chr18:39993389-39993390
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1036836	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1156541	0.84[EUR][1000 genomes]
rs1156542	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1372762	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1372763	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1431834	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs168300	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs173196	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs173199	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs180830	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs180831	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs180832	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs189389	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs189390	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2336238	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs237970	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2584798	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28760399	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346182	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs346183	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs346184	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs346185	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs346186	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs346187	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs346188	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs346189	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs346190	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs346191	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs346192	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs346193	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs346196	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs346197	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs346212	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs346213	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs346214	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs346215	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs346217	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs346222	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs346223	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs346224	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs346225	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs346261	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346263	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346264	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346265	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346266	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346267	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346268	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346270	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346271	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346438	0.83[EUR][1000 genomes]
rs346439	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs346441	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs346442	0.82[EUR][1000 genomes]
rs346443	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs346444	0.82[EUR][1000 genomes]
rs400064	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs410555	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs417913	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs421138	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs431856	0.93[EUR][1000 genomes]
rs437300	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs437823	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs441362	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs445364	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs675137	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7226753	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7239965	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7241409	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72903133	0.84[EUR][1000 genomes]
rs72903135	0.85[EUR][1000 genomes]
rs971293	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][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	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
2	nsv1059409	chr18:39711099-40139446	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv909572	chr18:39938510-40064000	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:39989400-39993400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr18:39989400-39993600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr18:39989400-39993600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr18:39992400-39995000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr18:39992400-39996000	Enhancers	NH-A	brain
6	chr18:39992600-39993400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr18:39992600-39994400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr18:39992800-39994800	Enhancers	HSMMtube	muscle
9	chr18:39992800-39995600	Enhancers	HSMM	muscle
10	chr18:39993000-39993400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr18:39993000-39993600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr18:39993000-39994600	Enhancers	Adipose Nuclei	Adipose
13	chr18:39993000-39996000	Enhancers	Osteobl	bone
14	chr18:39993000-39996200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr18:39993200-39994600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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