Variant report

Variant	rs1338944
Chromosome Location	chr20:23216006-23216007
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:23206231..23209945-chr20:23213936..23217641,4	MCF-7	breast:
2	chr20:23029146..23031709-chr20:23213546..23216514,2	MCF-7	breast:
3	chr20:23031123..23031990-chr20:23215759..23216515,5	K562	blood:
4	chr20:23059383..23060343-chr20:23215852..23216712,2	MCF-7	breast:
5	chr20:23032152..23032729-chr20:23215627..23216275,2	K562	blood:
6	chr20:23215835..23217812-chr20:23224040..23226341,2	K562	blood:

Variant related genes	Relation type
ENSG00000178726	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1099456	0.87[ASN][1000 genomes]
rs11696272	0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs1338942	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1416399	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1538446	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs1572707	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1856470	0.92[ASN][1000 genomes]
rs2024897	0.88[ASN][1000 genomes]
rs4813485	0.80[ASN][1000 genomes]
rs6036338	0.93[ASN][1000 genomes]
rs6048590	0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs6048591	0.90[ASN][1000 genomes]
rs6048592	0.93[ASN][1000 genomes]
rs6048595	0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs6048612	0.97[ASN][1000 genomes]
rs6048615	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6048618	0.99[ASN][1000 genomes]
rs6048619	0.99[ASN][1000 genomes]
rs6076038	0.88[ASN][1000 genomes]
rs6076039	0.92[ASN][1000 genomes]
rs6076041	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6083030	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs6083032	0.88[ASN][1000 genomes]
rs6083033	0.89[ASN][1000 genomes]
rs6083036	0.89[ASN][1000 genomes]
rs6083038	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs6083042	0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs6083043	0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs6132577	0.90[ASN][1000 genomes]
rs6132578	0.82[ASN][1000 genomes]
rs6132579	0.85[ASN][1000 genomes]
rs62206882	0.87[ASN][1000 genomes]
rs750652	0.87[ASN][1000 genomes]
rs8118328	0.88[ASN][1000 genomes]
rs844924	0.86[ASN][1000 genomes]
rs844929	0.86[ASN][1000 genomes]
rs844930	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs844932	0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs844934	0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs844936	0.87[ASN][1000 genomes]
rs844937	0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs844938	0.87[ASN][1000 genomes]
rs844939	0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs844940	0.87[ASN][1000 genomes]
rs844941	0.88[ASN][1000 genomes]
rs844942	0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs867909	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs870225	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912817	chr20:23127661-23240969	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1066734	chr20:23170094-23277628	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23213600-23216200	Enhancers	Monocytes-CD14+_RO01746	blood
2	chr20:23213600-23216400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr20:23214200-23241000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr20:23214600-23216400	Enhancers	NHDF-Ad	bronchial
5	chr20:23214800-23216200	Enhancers	HSMM	muscle
6	chr20:23215000-23216200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr20:23215000-23216200	Enhancers	Fetal Muscle Trunk	muscle
8	chr20:23215000-23216200	Enhancers	Placenta	Placenta
9	chr20:23215000-23216200	Enhancers	HSMMtube	muscle
10	chr20:23215000-23216200	Enhancers	Osteobl	bone
11	chr20:23215000-23216400	Enhancers	Ovary	ovary
12	chr20:23215400-23216200	Enhancers	K562	blood
13	chr20:23215800-23216200	Enhancers	Left Ventricle	heart
14	chr20:23215800-23216200	Enhancers	Right Atrium	heart

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