Variant report

Variant	rs2451818
Chromosome Location	chr5:118760415-118760416
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118760077..118762768-chr5:118762980..118764985,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs2451804	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2457221	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2459726	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs246966	0.80[MKK][hapmap]
rs2546210	0.90[MEX][hapmap]
rs257970	0.90[MEX][hapmap]
rs257981	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs258049	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs258052	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs26181	1.00[CHB][hapmap];0.82[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.88[MKK][hapmap]
rs26184	1.00[CHB][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.90[MEX][hapmap];0.85[MKK][hapmap];0.95[YRI][hapmap]
rs2636961	0.83[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.87[MKK][hapmap];0.82[YRI][hapmap]
rs2636964	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs2636968	1.00[CHB][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.90[MEX][hapmap];0.92[MKK][hapmap];0.87[YRI][hapmap]
rs2678070	1.00[CHB][hapmap];0.83[GIH][hapmap]
rs27938	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs32651	1.00[CHB][hapmap]
rs382719	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs422297	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs426899	0.85[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.80[TSI][hapmap]
rs439954	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs442923	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs450118	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap]
rs455318	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs461108	0.89[CEU][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs462756	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs463098	0.85[MEX][hapmap]
rs463513	1.00[CHB][hapmap]
rs465091	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs467076	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4895191	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6875595	1.00[CEU][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7720373	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7720678	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7721602	0.92[CEU][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][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	nsv1030717	chr5:118709310-118836951	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv427732	chr5:118730999-119034741	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv965533	chr5:118738884-118762384	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv4974	chr5:118750259-118795376	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2451818	SNX24	cis	parietal	SCAN
rs2451818	HSD17B4	Cis_1M	lymphoblastoid	RTeQTL
rs2451818	PRR16	cis	parietal	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118753800-118762800	Weak transcription	Colon Smooth Muscle	Colon
2	chr5:118754800-118762200	Weak transcription	K562	blood
3	chr5:118756200-118762200	Weak transcription	Stomach Mucosa	stomach
4	chr5:118756400-118761600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr5:118756600-118761800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr5:118756800-118761600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr5:118756800-118761800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:118756800-118762400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr5:118756800-118762800	Weak transcription	Placenta	Placenta
10	chr5:118757200-118761800	Weak transcription	Primary B cells from peripheral blood	blood
11	chr5:118757200-118762000	Weak transcription	Primary B cells from cord blood	blood
12	chr5:118759000-118761200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr5:118759000-118762000	Weak transcription	Adipose Nuclei	Adipose
14	chr5:118759200-118761400	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr5:118759400-118762200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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