Variant report

Variant	rs2484030
Chromosome Location	chr1:210296910-210296911
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11590161	0.91[EUR][1000 genomes]
rs12401646	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12750599	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1338286	0.85[ASN][1000 genomes]
rs1413695	0.81[AFR][1000 genomes]
rs1490419	0.84[AFR][1000 genomes]
rs17318612	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17318744	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2451696	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2451697	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2484031	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2484032	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2484033	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2484034	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.91[MKK][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2485883	0.90[ASN][1000 genomes]
rs2485884	1.00[ASN][1000 genomes]
rs2485885	0.95[ASN][1000 genomes]
rs2485897	1.00[ASN][1000 genomes]
rs2485898	1.00[ASN][1000 genomes]
rs2494169	0.94[YRI][hapmap]
rs2494170	1.00[ASN][1000 genomes]
rs2494191	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs34704551	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34931444	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35256257	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4844954	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56131913	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61820396	0.89[EUR][1000 genomes]
rs61820397	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61826848	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6540578	0.92[EUR][1000 genomes]
rs6657016	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs701947	0.85[MKK][hapmap];0.83[YRI][hapmap]
rs701948	0.83[MKK][hapmap];0.83[YRI][hapmap]
rs7528647	0.85[MKK][hapmap]
rs7543650	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv873140	chr1:210068117-210335644	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv873141	chr1:210228131-210296910	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv873143	chr1:210233610-210296910	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv873144	chr1:210252522-210347417	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv818800	chr1:210258653-210304319	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210283000-210298000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:210291200-210297000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr1:210291800-210297200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr1:210291800-210297400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr1:210295600-210298600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:210295800-210298000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr1:210296200-210299800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:210296400-210297200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:210296600-210297200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:210296600-210298000	Enhancers	HMEC	breast
11	chr1:210296600-210298400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:210296600-210298800	Enhancers	NH-A	brain
13	chr1:210296600-210299400	Enhancers	NHDF-Ad	bronchial
14	chr1:210296800-210297200	Enhancers	NHLF	lung
15	chr1:210296800-210298000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:210296800-210298200	Enhancers	NHEK	skin

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