Variant report

Variant	rs10779418
Chromosome Location	chr1:221136196-221136197
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:221130934..221133035-chr1:221134689..221137532,2	K562	blood:
2	chr1:221130934..221133697-chr1:221134689..221137747,4	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10495159	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10779417	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10863573	0.90[EUR][1000 genomes]
rs11118632	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12022930	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12140805	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1335927	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1335929	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1414519	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1414520	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2484703	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2484704	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2484706	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2784276	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2784279	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2784280	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2784281	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2807832	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2807875	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2807876	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2807877	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2807881	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2992647	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2992649	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2992650	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3013553	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3013554	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3013556	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3013558	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6678632	0.91[EUR][1000 genomes];0.83[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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221133800-221136200	Enhancers	NHDF-Ad	bronchial
2	chr1:221133800-221137000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:221134400-221137200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:221134600-221136200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:221134600-221136200	Enhancers	HSMMtube	muscle
6	chr1:221134800-221136200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:221134800-221136200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:221134800-221136200	Enhancers	HSMM	muscle
9	chr1:221134800-221136200	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr1:221134800-221136200	Enhancers	NH-A	brain
11	chr1:221134800-221136400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:221134800-221136400	Enhancers	NHLF	lung
13	chr1:221135200-221136800	Enhancers	HMEC	breast
14	chr1:221135400-221136400	Enhancers	Osteobl	bone
15	chr1:221135800-221136200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
16	chr1:221136000-221137600	Weak transcription	Liver	Liver
17	chr1:221136000-221139000	Weak transcription	K562	blood
18	chr1:221136000-221139600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:221136000-221140200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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