Variant report

Variant	rs12651915
Chromosome Location	chr5:145124401-145124402
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10038598	0.86[CEU][hapmap];0.90[YRI][hapmap]
rs10041421	0.86[CEU][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap]
rs1019925	0.85[CEU][hapmap];0.82[YRI][hapmap]
rs1019926	0.86[CEU][hapmap];0.91[YRI][hapmap]
rs13158196	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13162113	0.98[EUR][1000 genomes]
rs13172887	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13174021	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1972778	0.86[CEU][hapmap]
rs2400197	1.00[ASW][hapmap];0.93[CEU][hapmap];0.86[TSI][hapmap];0.82[YRI][hapmap]
rs2400198	1.00[CEU][hapmap];0.86[YRI][hapmap]
rs2400201	0.82[EUR][1000 genomes]
rs338884	0.83[EUR][1000 genomes]
rs338886	0.83[EUR][1000 genomes]
rs338887	1.00[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];0.92[MEX][hapmap];0.92[ASN][1000 genomes]
rs338888	0.82[MEX][hapmap]
rs338893	0.82[MEX][hapmap]
rs338896	1.00[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];0.92[MEX][hapmap];0.92[ASN][1000 genomes]
rs338897	0.93[GIH][hapmap];0.92[MEX][hapmap]
rs4358578	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4360088	0.98[EUR][1000 genomes]
rs4422574	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4587126	0.98[EUR][1000 genomes]
rs4587127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4913037	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs582130	0.92[ASN][1000 genomes]
rs587224	0.82[MEX][hapmap]
rs627623	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6867440	0.82[MEX][hapmap];0.85[TSI][hapmap]
rs6869743	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6871384	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6875843	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6898331	0.82[EUR][1000 genomes]
rs694615	0.98[EUR][1000 genomes]
rs7717605	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7735617	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[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	nsv462474	chr5:145068001-145143775	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv599934	chr5:145068001-145143775	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1021851	chr5:145106686-145187560	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12651915	SPINK5	cis	parietal	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145105400-145179000	Weak transcription	Pancreas	Pancrea
2	chr5:145109400-145194400	Weak transcription	Colonic Mucosa	Colon
3	chr5:145110400-145143800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr5:145111400-145166800	Weak transcription	K562	blood
5	chr5:145113600-145140000	Weak transcription	Ovary	ovary
6	chr5:145114000-145163400	Weak transcription	Small Intestine	intestine
7	chr5:145114600-145142400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr5:145114800-145139200	Weak transcription	Fetal Intestine Large	intestine
9	chr5:145115800-145143800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr5:145122000-145131600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr5:145122400-145126600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr5:145123000-145124600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:145123400-145125000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr5:145123800-145131400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:145124200-145145000	Weak transcription	Fetal Intestine Small	intestine
16	chr5:145124400-145139400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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