Variant report

Variant	rs2687628
Chromosome Location	chr2:114557062-114557063
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:114556962..114561005-chr2:114561419..114564127,4	K562	blood:
2	chr2:114555592..114558164-chr2:114562468..114564787,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10167730	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10172842	0.94[CEU][hapmap]
rs10177576	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10179657	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10209330	1.00[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs10496453	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11123207	0.84[ASN][1000 genomes]
rs11686297	0.86[ASN][1000 genomes]
rs11694130	1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs12613159	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12711788	0.82[ASN][1000 genomes]
rs17040397	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2122097	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2290108	0.95[CEU][hapmap]
rs2305255	0.89[CEU][hapmap]
rs2442136	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2595140	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2595152	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2687623	0.80[ASN][1000 genomes]
rs2687624	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2687626	0.90[AFR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2687627	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2687630	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28451366	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2900744	0.94[CEU][hapmap]
rs34332133	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35734534	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3816384	0.95[CEU][hapmap]
rs3890789	0.94[CEU][hapmap]
rs4848343	0.89[CEU][hapmap]
rs4848349	0.84[ASN][1000 genomes]
rs4848350	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4849270	0.94[CEU][hapmap]
rs4849275	0.86[ASN][1000 genomes]
rs4849277	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4849278	0.84[ASN][1000 genomes]
rs4849279	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6711542	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7600228	1.00[CEU][hapmap];0.82[EUR][1000 genomes];0.84[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	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

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs2687628	RPL23AP7	cis	Whole Blood	GTEx
rs2687628	RPL23AP7	cis	Artery Tibial	GTEx
rs2687628	DDX11L2	cis	Whole Blood	GTEx
rs2687628	RPL23AP7	cis	Muscle Skeletal	GTEx
rs2687628	SLC35F5	Cis_1M	lymphoblastoid	RTeQTL
rs2687628	RPL23AP7	cis	lung	GTEx
rs2687628	RPL23AP7	cis	Artery Aorta	GTEx

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114550200-114563800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr2:114553200-114557200	Weak transcription	Osteobl	bone
3	chr2:114553600-114557200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:114554600-114564400	Weak transcription	Small Intestine	intestine
5	chr2:114556600-114558400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:114556800-114557200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:114557000-114557200	Active TSS	Monocytes-CD14+_RO01746	blood
8	chr2:114557000-114557400	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr2:114557000-114557400	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr2:114557000-114557400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:114557000-114557600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:114557000-114557800	Enhancers	Primary monocytes fromperipheralblood	blood

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