Variant report

Variant	rs6730859
Chromosome Location	chr2:182659273-182659274
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:182655124..182657474-chr2:182657876..182660662,2	K562	blood:
2	chr2:182657640..182659735-chr2:182660701..182663303,2	K562	blood:
3	chr2:182658638..182660215-chr2:182682406..182684395,2	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10165226	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10165936	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10173114	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10176061	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10179363	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10179547	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10182213	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10183527	0.83[AFR][1000 genomes]
rs10199645	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10200243	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1106013	0.95[ASN][1000 genomes]
rs11884097	0.91[AFR][1000 genomes]
rs11886921	0.89[AFR][1000 genomes]
rs11901603	0.89[AFR][1000 genomes]
rs11902910	0.92[AFR][1000 genomes]
rs12620859	0.82[EUR][1000 genomes]
rs13414894	0.89[AFR][1000 genomes]
rs13415272	0.90[AFR][1000 genomes]
rs13424337	0.90[AFR][1000 genomes]
rs13425734	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13428496	0.91[AFR][1000 genomes]
rs1343793	0.89[AFR][1000 genomes]
rs1881158	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1881159	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2037799	0.83[AFR][1000 genomes]
rs2368225	0.85[AFR][1000 genomes]
rs6720702	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6748354	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6754481	0.83[AFR][1000 genomes]
rs7567220	0.89[AFR][1000 genomes]
rs7580410	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9288073	0.89[AFR][1000 genomes]
rs9288074	0.87[AFR][1000 genomes]
rs937297	0.95[ASN][1000 genomes]
rs950165	0.94[ASN][1000 genomes]
rs951542	0.87[AFR][1000 genomes]
rs951543	0.89[AFR][1000 genomes]
rs9808113	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1001558	chr2:182590009-182732738	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv834478	chr2:182654811-182843201	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6730859	LOC647288///LOC730587	trans	lymphoblastoid	RTeQTL

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182657200-182661400	Weak transcription	Osteobl	bone
2	chr2:182657200-182669800	Weak transcription	NHDF-Ad	bronchial
3	chr2:182658800-182659400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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