Variant report

Variant	rs2442136
Chromosome Location	chr2:114535073-114535074
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	chr2:114512806..114514791-chr2:114533801..114535342,2	MCF-7	breast:
2	chr2:114532490..114535142-chr2:114535239..114537247,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115084	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10167730	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10172842	0.94[CEU][hapmap];0.87[GIH][hapmap];0.91[MEX][hapmap];0.86[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10177576	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10179657	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10209098	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10209330	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10496453	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11123206	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11123207	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11686297	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11694130	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12613159	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12711788	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1375332	0.86[EUR][1000 genomes]
rs17040397	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2122097	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290108	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs2305255	0.89[CEU][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2595140	0.80[ASN][1000 genomes]
rs2595152	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2687623	0.89[ASN][1000 genomes]
rs2687624	0.82[ASN][1000 genomes]
rs2687626	0.88[ASN][1000 genomes]
rs2687627	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2687628	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2687630	0.95[CHB][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28451366	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2900744	0.94[CEU][hapmap];0.87[GIH][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34332133	0.87[ASN][1000 genomes]
rs35734534	0.88[ASN][1000 genomes]
rs3816384	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs3890789	0.94[CEU][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4848343	0.89[CEU][hapmap];0.87[GIH][hapmap];0.83[MEX][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4848345	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4848349	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4848350	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4849270	0.94[CEU][hapmap];0.87[GIH][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4849275	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4849277	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4849278	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4849279	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6711542	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7560480	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7577893	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7600228	1.00[CEU][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009509	chr2:114432965-114557306	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv535896	chr2:114432965-114557306	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv2883	chr2:114507889-114535199	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs2442136	RPL23AP7	cis	Artery Aorta	GTEx
rs2442136	RPL23AP7	cis	Artery Tibial	GTEx
rs2442136	RPL23AP7	cis	Muscle Skeletal	GTEx
rs2442136	RPL23AP7	cis	lung	GTEx
rs2442136	SLC35F5	Cis_1M	lymphoblastoid	RTeQTL
rs2442136	RPL23AP7	cis	Whole Blood	GTEx

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114534200-114535800	Enhancers	Fetal Intestine Small	intestine
2	chr2:114534400-114535400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:114534400-114535600	Enhancers	Duodenum Mucosa	Duodenum
4	chr2:114534400-114535800	Enhancers	Fetal Intestine Large	intestine
5	chr2:114534600-114535400	Enhancers	HepG2	liver
6	chr2:114534600-114535600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:114534600-114535800	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr2:114534800-114537800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:114535000-114535400	Enhancers	Osteobl	bone

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