Variant report

Variant	rs6048618
Chromosome Location	chr20:23211606-23211607
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1005856	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1099456	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11696272	0.96[CEU][hapmap];0.80[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1338942	0.96[CHB][hapmap];0.96[JPT][hapmap];0.90[ASN][1000 genomes]
rs1338944	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1416399	0.99[ASN][1000 genomes]
rs1538445	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1538446	0.96[CEU][hapmap];0.96[CHB][hapmap];0.96[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1572707	0.97[ASN][1000 genomes]
rs1856470	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2024897	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6036338	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6048590	0.96[CEU][hapmap];0.96[CHB][hapmap];0.96[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6048591	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6048592	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6048595	0.96[CEU][hapmap];0.96[CHB][hapmap];0.96[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6048612	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6048615	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6048619	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6076038	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6076039	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6076041	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6083030	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6083032	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6083033	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6083036	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6083038	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6083042	0.96[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs6083043	0.96[CEU][hapmap];0.96[CHB][hapmap];0.96[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6106616	0.80[EUR][1000 genomes]
rs6113992	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6132576	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6132577	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6132578	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6132579	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62206882	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs750652	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8118328	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs844924	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs844929	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs844930	0.88[ASN][1000 genomes]
rs844932	0.96[CEU][hapmap];0.96[CHB][hapmap];0.96[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs844934	0.96[CEU][hapmap];0.96[CHB][hapmap];0.96[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs844936	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs844937	0.96[CEU][hapmap];0.95[CHB][hapmap];0.96[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs844938	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs844939	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs844940	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs844941	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs844942	0.96[CEU][hapmap];0.96[CHB][hapmap];0.96[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs867909	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs870225	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23205600-23212800	Enhancers	NHDF-Ad	bronchial
2	chr20:23205600-23213000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr20:23206200-23213000	Enhancers	Osteobl	bone
4	chr20:23208400-23212200	Weak transcription	HUVEC	blood vessel
5	chr20:23209200-23212800	Enhancers	NHLF	lung
6	chr20:23209400-23212200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr20:23209600-23212200	Weak transcription	NH-A	brain
8	chr20:23209800-23211800	Weak transcription	Placenta	Placenta
9	chr20:23209800-23212200	Weak transcription	Ovary	ovary
10	chr20:23210200-23211800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr20:23210200-23212000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr20:23210400-23211800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr20:23210400-23212000	Weak transcription	HSMMtube	muscle
14	chr20:23211200-23216000	Enhancers	Stomach Mucosa	stomach
15	chr20:23211400-23211800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr20:23211400-23212200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr20:23211400-23212600	Enhancers	Spleen	Spleen
18	chr20:23211400-23212800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr20:23211600-23211800	Enhancers	Fetal Muscle Leg	muscle
20	chr20:23211600-23212400	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr20:23211600-23212400	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr20:23211600-23212600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr20:23211600-23212600	Enhancers	Primary T cells from cord blood	blood
24	chr20:23211600-23212800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr20:23211600-23213200	Enhancers	HSMM	muscle
26	chr20:23211600-23213400	Enhancers	Hela-S3	cervix
27	chr20:23211600-23214000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links