Variant report

Variant	rs1687721
Chromosome Location	chr10:27944386-27944387
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:27944057..27945751-chr10:27951830..27953869,2	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]
rs1168575	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1168577	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1168584	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1168587	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1177564	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1494196	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1494197	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1532315	1.00[ASN][1000 genomes]
rs1613987	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1620830	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1690682	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2130809	0.82[GIH][hapmap];0.86[JPT][hapmap]
rs2253230	0.82[GIH][hapmap];0.86[JPT][hapmap]
rs2451923	0.84[ASN][1000 genomes]
rs2492907	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2505135	0.84[ASN][1000 genomes]
rs2637282	0.98[ASN][1000 genomes]
rs2637283	1.00[ASN][1000 genomes]
rs2642275	0.95[ASN][1000 genomes]
rs2642277	0.95[ASN][1000 genomes]
rs2642280	0.87[ASN][1000 genomes]
rs2642297	0.98[ASN][1000 genomes]
rs2642298	0.98[ASN][1000 genomes]
rs2642299	0.98[ASN][1000 genomes]
rs2642301	1.00[ASN][1000 genomes]
rs2808269	0.95[ASN][1000 genomes]
rs2808270	0.95[ASN][1000 genomes]
rs2808271	0.95[ASN][1000 genomes]
rs2808272	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2808273	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2808277	1.00[ASN][1000 genomes]
rs2808278	0.89[ASN][1000 genomes]
rs2815535	0.95[ASN][1000 genomes]
rs2815537	0.95[ASN][1000 genomes]
rs2815538	0.95[ASN][1000 genomes]
rs2815540	0.97[ASN][1000 genomes]
rs2815541	1.00[ASN][1000 genomes]
rs2999979	0.95[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	nsv550241	chr10:27569521-28025771	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	esv3368825	chr10:27864181-28043820	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv894985	chr10:27869503-27957785	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv894986	chr10:27904646-27957785	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1687721	ABI1	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27933800-27963600	Weak transcription	Ovary	ovary
2	chr10:27941600-27963600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr10:27943800-27944800	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr10:27944000-27944400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr10:27944200-27944400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr10:27944200-27944600	Enhancers	NHDF-Ad	bronchial
7	chr10:27944200-27945000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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