Variant report

Variant	rs2784276
Chromosome Location	chr1:221132124-221132125
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:221129375..221132337-chr1:221211581..221213547,2	K562	blood:
2	chr1:221127207..221129659-chr1:221129741..221132155,2	K562	blood:
3	chr1:221130934..221133697-chr1:221134689..221137747,4	K562	blood:
4	chr1:221130934..221133035-chr1:221134689..221137532,2	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]
rs10779418	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863573	0.90[EUR][1000 genomes]
rs11118632	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12022930	0.96[CEU][hapmap];0.83[CHB][hapmap];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	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2484704	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2484706	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2784279	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2784280	0.80[AFR][1000 genomes];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	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2807881	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[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	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3013558	0.94[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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221126400-221132400	Enhancers	Muscle Satellite Cultured Cells	--
2	chr1:221126600-221132600	Enhancers	NHDF-Ad	bronchial
3	chr1:221128800-221132400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:221129000-221132400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:221129000-221132600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:221129800-221132200	Enhancers	NHLF	lung
7	chr1:221131200-221133800	Weak transcription	K562	blood
8	chr1:221131200-221134800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:221131200-221134800	Weak transcription	NH-A	brain
10	chr1:221131400-221134800	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr1:221131400-221134800	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr1:221131600-221132400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:221131600-221134000	Weak transcription	HSMMtube	muscle
14	chr1:221131600-221134600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:221131600-221134800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:221131600-221134800	Weak transcription	HSMM	muscle
17	chr1:221131600-221135200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:221132000-221134600	Weak transcription	Osteobl	bone

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